Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Ktn1'

167556

Institutional Source

Beutler Lab

Gene Symbol

Ktn1

Ensembl Gene

ENSMUSG00000021843

Gene Name

kinectin 1

Synonyms

MMRRC Submission

040871-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47648448-47739894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47667416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 217 (K217T)

Ref Sequence

ENSEMBL: ENSMUSP00000139946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022391] [ENSMUST00000185343] [ENSMUST00000185940] [ENSMUST00000186466] [ENSMUST00000186627] [ENSMUST00000186761] [ENSMUST00000187039] [ENSMUST00000187262] [ENSMUST00000187839] [ENSMUST00000188330] [ENSMUST00000188553] [ENSMUST00000189101] [ENSMUST00000190535] [ENSMUST00000190999] [ENSMUST00000191446] [ENSMUST00000191511] [ENSMUST00000190252] [ENSMUST00000189533] [ENSMUST00000190182] [ENSMUST00000191018] [ENSMUST00000189986]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022391
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1028	N/A	INTRINSIC
coiled coil region	1089	1267	N/A	INTRINSIC
coiled coil region	1302	1326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185343
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	1005	N/A	INTRINSIC
coiled coil region	1066	1192	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185940
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1163	N/A	INTRINSIC
coiled coil region	1198	1222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186466

SMART Domains

Protein: ENSMUSP00000140523
Gene: ENSMUSG00000021843

Domain	Start	End	E-Value	Type
Pfam:Rib_recp_KP_reg	29	173	9.6e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186627
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186761
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1016	N/A	INTRINSIC
coiled coil region	1060	1210	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187039
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1163	N/A	INTRINSIC
coiled coil region	1198	1222	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187262
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1028	N/A	INTRINSIC
coiled coil region	1089	1215	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187839
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1028	N/A	INTRINSIC
coiled coil region	1089	1267	N/A	INTRINSIC
coiled coil region	1302	1326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188330
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1187	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188553
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	1005	N/A	INTRINSIC
coiled coil region	1066	1216	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189101
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1163	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190535
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	1005	N/A	INTRINSIC
coiled coil region	1066	1244	N/A	INTRINSIC
coiled coil region	1279	1303	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190999
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1215	N/A	INTRINSIC
coiled coil region	1250	1274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191446
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1028	N/A	INTRINSIC
coiled coil region	1089	1215	N/A	INTRINSIC
coiled coil region	1250	1274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191511
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	1005	N/A	INTRINSIC
coiled coil region	1066	1192	N/A	INTRINSIC
coiled coil region	1227	1251	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190252
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1016	N/A	INTRINSIC
coiled coil region	1060	1210	N/A	INTRINSIC
coiled coil region	1245	1269	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189533
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	993	N/A	INTRINSIC
coiled coil region	1037	1187	N/A	INTRINSIC
coiled coil region	1222	1246	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190182
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	1016	N/A	INTRINSIC
coiled coil region	1060	1238	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191018
AA Change: K217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: K217T

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
coiled coil region	40	66	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	150	173	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC
coiled coil region	329	372	N/A	INTRINSIC
coiled coil region	402	727	N/A	INTRINSIC
coiled coil region	764	792	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
coiled coil region	836	1005	N/A	INTRINSIC
coiled coil region	1066	1220	N/A	INTRINSIC
coiled coil region	1255	1279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189986

SMART Domains

Protein: ENSMUSP00000139970
Gene: ENSMUSG00000021843

Domain	Start	End	E-Value	Type
Pfam:Rib_recp_KP_reg	29	172	2.1e-7	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Ktn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ktn1	APN	14	47708878	missense	probably benign	0.30
IGL01109:Ktn1	APN	14	47714721	missense	probably damaging	1.00
IGL02300:Ktn1	APN	14	47690060	missense	probably damaging	1.00
IGL02339:Ktn1	APN	14	47683378	splice site	probably benign
IGL02525:Ktn1	APN	14	47724743	critical splice donor site	probably null
IGL02565:Ktn1	APN	14	47672934	splice site	probably benign
IGL02678:Ktn1	APN	14	47734153	critical splice acceptor site	probably null
IGL03181:Ktn1	APN	14	47733284	missense	probably benign	0.19
IGL03393:Ktn1	APN	14	47690934	missense	probably damaging	1.00
PIT4520001:Ktn1	UTSW	14	47686317	missense	probably damaging	0.96
R0035:Ktn1	UTSW	14	47730379	missense	probably benign	0.07
R0035:Ktn1	UTSW	14	47730379	missense	probably benign	0.07
R0270:Ktn1	UTSW	14	47714662	missense	probably benign	0.00
R0370:Ktn1	UTSW	14	47664075	missense	probably benign	0.00
R0371:Ktn1	UTSW	14	47724003	nonsense	probably null
R0530:Ktn1	UTSW	14	47733243	missense	probably benign	0.14
R0531:Ktn1	UTSW	14	47663941	missense	probably damaging	0.98
R0611:Ktn1	UTSW	14	47694616	missense	probably benign
R0836:Ktn1	UTSW	14	47701062	splice site	probably null
R1076:Ktn1	UTSW	14	47694638	missense	probably damaging	0.99
R1554:Ktn1	UTSW	14	47695507	missense	probably damaging	1.00
R1992:Ktn1	UTSW	14	47695521	missense	probably damaging	1.00
R2040:Ktn1	UTSW	14	47700612	splice site	probably benign
R2080:Ktn1	UTSW	14	47725960	missense	probably damaging	1.00
R2110:Ktn1	UTSW	14	47693888	missense	possibly damaging	0.47
R2144:Ktn1	UTSW	14	47714652	missense	probably damaging	1.00
R3730:Ktn1	UTSW	14	47701149	missense	probably damaging	1.00
R3780:Ktn1	UTSW	14	47706403	splice site	probably benign
R3782:Ktn1	UTSW	14	47706403	splice site	probably benign
R4414:Ktn1	UTSW	14	47724930	nonsense	probably null
R4610:Ktn1	UTSW	14	47726179	intron	probably benign
R4784:Ktn1	UTSW	14	47693496	critical splice donor site	probably null
R4838:Ktn1	UTSW	14	47725956	nonsense	probably null
R4909:Ktn1	UTSW	14	47706460	missense	probably damaging	0.99
R4976:Ktn1	UTSW	14	47670299	critical splice donor site	probably null
R5110:Ktn1	UTSW	14	47704287	splice site	probably benign
R5257:Ktn1	UTSW	14	47667363	missense	probably benign	0.05
R5469:Ktn1	UTSW	14	47690920	missense	probably damaging	1.00
R5600:Ktn1	UTSW	14	47690033	missense	probably damaging	1.00
R5607:Ktn1	UTSW	14	47734097	intron	probably benign
R5608:Ktn1	UTSW	14	47734097	intron	probably benign
R5920:Ktn1	UTSW	14	47724024	nonsense	probably null
R6045:Ktn1	UTSW	14	47676796	missense	probably damaging	1.00
R6139:Ktn1	UTSW	14	47726215	splice site	probably null
R6282:Ktn1	UTSW	14	47663971	missense	probably damaging	1.00
R6654:Ktn1	UTSW	14	47690000	missense	probably damaging	1.00
R6957:Ktn1	UTSW	14	47667353	nonsense	probably null
R6959:Ktn1	UTSW	14	47720256	missense	probably damaging	1.00
R7170:Ktn1	UTSW	14	47706410	missense	probably damaging	1.00
R7206:Ktn1	UTSW	14	47695528	missense	probably damaging	0.97
R7442:Ktn1	UTSW	14	47714640	missense	probably benign	0.01
R7462:Ktn1	UTSW	14	47694632	missense	probably null	1.00
R7513:Ktn1	UTSW	14	47664084	missense	possibly damaging	0.77
R7743:Ktn1	UTSW	14	47670293	missense	probably damaging	1.00
R8010:Ktn1	UTSW	14	47705773	missense	possibly damaging	0.60
R8062:Ktn1	UTSW	14	47724972	critical splice donor site	probably null
R8244:Ktn1	UTSW	14	47674823	missense	probably null	1.00
R8387:Ktn1	UTSW	14	47707287	splice site	probably null
R8724:Ktn1	UTSW	14	47693878	missense	probably benign	0.00
R8725:Ktn1	UTSW	14	47670300	critical splice donor site	probably benign
R8962:Ktn1	UTSW	14	47663791	missense	probably damaging	1.00
R9001:Ktn1	UTSW	14	47672952	missense	probably damaging	0.99
R9072:Ktn1	UTSW	14	47704237	missense	probably benign	0.25
R9324:Ktn1	UTSW	14	47710896	missense	probably benign	0.02
R9423:Ktn1	UTSW	14	47674861	missense	probably benign	0.00
R9479:Ktn1	UTSW	14	47724717	missense	probably damaging	0.98
Z1177:Ktn1	UTSW	14	47692438	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGACCATACTGTGGGCTGGGAATG -3'
(R):5'- GCAATGCAACTACAAGATTGCAGAGC -3'

Sequencing Primer
(F):5'- GGGCCACATACATTAAAGACG -3'
(R):5'- CAAGATTGCAGAGCACTTTAGAC -3'

Posted On

2014-04-13