Mutagenetix > Incidental Mutations

Incidental Mutation 'R7513:Ktn1'

582251

Institutional Source

Beutler Lab

Gene Symbol

Ktn1

Ensembl Gene

ENSMUSG00000021843

Gene Name

kinectin 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47648448-47739894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 47664084 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 100 (A100P)

Ref Sequence

ENSEMBL: ENSMUSP00000022391 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022391
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000185343
AA Change: A100P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000185940
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000186466
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140523
Gene: ENSMUSG00000021843
AA Change: A100P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186627
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000186761
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000187039
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000187262
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000187839
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000188330
AA Change: A100P

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000188553
AA Change: A100P

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000189101
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000189533
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000189986
AA Change: A100P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139970
Gene: ENSMUSG00000021843
AA Change: A100P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190182
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000190252
AA Change: A100P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000190535
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000190999
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000191018
AA Change: A100P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000191446
AA Change: A100P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: A100P

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

possibly damaging
Transcript: ENSMUST00000191511
AA Change: A100P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: A100P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,272,071	G1709R	unknown	Het
Abcb1a	G	A	5: 8,715,771	W694*	probably null	Het
Accs	T	C	2: 93,840,092	N256S	possibly damaging	Het
Agmo	C	T	12: 37,244,353	T100I	probably benign	Het
Alox8	T	C	11: 69,187,844	D341G	probably benign	Het
Apol7c	T	A	15: 77,525,711	E345V	possibly damaging	Het
Arl5a	A	G	2: 52,412,145	F86L	possibly damaging	Het
AU040320	A	G	4: 126,792,264	E211G	probably benign	Het
B020011L13Rik	T	A	1: 117,801,419	C219S	probably damaging	Het
Btaf1	T	A	19: 36,978,403	L579Q	probably benign	Het
Cd84	T	A	1: 171,884,618	V267E	probably benign	Het
Clec11a	T	C	7: 44,306,356	E89G	probably benign	Het
Csrnp2	C	A	15: 100,482,416	E331D	probably benign	Het
Cyp2d12	C	A	15: 82,558,420	H355N	probably benign	Het
D3Ertd254e	T	A	3: 36,164,643	F272I	possibly damaging	Het
Ddx24	C	A	12: 103,419,106	G413*	probably null	Het
Dhx38	G	A	8: 109,560,589	P249L	probably benign	Het
Dip2a	A	T	10: 76,313,235	M233K	probably benign	Het
Dip2b	T	A	15: 100,207,748		probably null	Het
Dmbt1	T	C	7: 131,090,512	S1003P	unknown	Het
Dna2	A	G	10: 62,971,968	D1033G	probably benign	Het
Dnah5	T	C	15: 28,370,415	S2834P	probably benign	Het
Dnah7b	T	G	1: 46,124,346	S437A	probably benign	Het
Eif5	A	T	12: 111,540,252	I93F	probably damaging	Het
Fbxo47	A	G	11: 97,856,229	F337S	probably damaging	Het
Gm8765	T	A	13: 50,702,873	I849N	probably benign	Het
Helz	T	C	11: 107,656,115	I1086T	probably damaging	Het
Ifi208	A	T	1: 173,695,654	R497*	probably null	Het
Igfn1	T	G	1: 135,959,967	D2453A	probably damaging	Het
Ighg2c	A	T	12: 113,288,851	L27Q		Het
Jak1	C	T	4: 101,191,651	C10Y	probably damaging	Het
Kif7	T	A	7: 79,711,028	N200Y	possibly damaging	Het
Lrsam1	T	C	2: 32,953,485	D136G	probably benign	Het
Man2c1	T	C	9: 57,139,399	L648P	probably benign	Het
Mki67	T	C	7: 135,693,223	I3116V	probably benign	Het
Mmp10	A	T	9: 7,508,127	D418V	probably damaging	Het
Mrpl24	A	T	3: 87,922,427	T107S	probably benign	Het
Mycbpap	T	A	11: 94,503,556	D296V	probably damaging	Het
Mycn	C	A	12: 12,939,742	A218S	probably benign	Het
Myo1f	G	T	17: 33,575,814	W9C	probably damaging	Het
Nckap1	T	A	2: 80,502,291	K1074N	possibly damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nhsl1	T	C	10: 18,523,952	S275P	probably damaging	Het
Olfr180	T	A	16: 58,915,932	K236N	probably damaging	Het
Olfr709-ps1	A	G	7: 106,927,276	F61S	possibly damaging	Het
Pam	G	A	1: 97,853,185	P514S	possibly damaging	Het
Pcdha4	C	T	18: 36,953,339	L192F	probably damaging	Het
Per1	T	A	11: 69,105,571	D800E	probably benign	Het
Plcg2	C	A	8: 117,579,853	N315K	probably damaging	Het
Plxnb2	T	A	15: 89,158,322		probably null	Het
Pnpla1	A	G	17: 28,858,807		probably benign	Het
Pptc7	A	T	5: 122,308,129		probably null	Het
Psg26	G	T	7: 18,475,300	S394R	probably benign	Het
Psmc1	C	A	12: 100,115,514	T125K	probably benign	Het
Ptgis	T	A	2: 167,225,283	M125L	probably benign	Het
Rbms1	A	G	2: 60,758,821	Y323H	probably damaging	Het
Rgl2	G	A	17: 33,932,555	R191Q	probably benign	Het
Sirpb1a	G	A	3: 15,411,443	T98I	possibly damaging	Het
Sirpb1b	C	A	3: 15,542,140	E361*	probably null	Het
Slc13a4	A	T	6: 35,283,337		probably null	Het
Spag9	T	C	11: 94,112,083	S1140P	probably damaging	Het
Tas2r137	A	G	6: 40,492,150	N305D	probably damaging	Het
Tenm2	G	A	11: 36,051,900	A1314V	probably benign	Het
Tgm3	A	G	2: 130,024,404	T81A	probably benign	Het
Timeless	T	C	10: 128,249,530	V839A	probably damaging	Het
Tmem132a	A	G	19: 10,860,128	I606T	probably damaging	Het
Tox	T	A	4: 6,741,507	M158L	probably benign	Het
Trpc2	A	T	7: 102,090,068	M549L	probably damaging	Het
Trpm5	C	T	7: 143,081,835	R600Q	possibly damaging	Het
Trpv1	A	G	11: 73,240,541	N302D	probably damaging	Het
Ttn	G	T	2: 76,944,963	H1958N	unknown	Het
Ttn	C	T	2: 76,851,596	R1019H		Het
Usp32	A	T	11: 85,027,112	Y769*	probably null	Het
Vim	A	T	2: 13,578,632	Q255L	possibly damaging	Het
Vmn1r84	T	C	7: 12,362,067	H233R	probably benign	Het
Xirp2	T	A	2: 67,510,764	H1116Q	possibly damaging	Het
Zc3h18	G	T	8: 122,408,254	R580L	unknown	Het
Zfp442	A	T	2: 150,408,756	C409S	unknown	Het
Zfy1	A	T	Y: 759,852	I20K	unknown	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
R1522:Ktn1	UTSW	14	47667416	missense	probably damaging	1.00
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
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
Z1177:Ktn1	UTSW	14	47692438	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGAGCTGTACGAGTCAAC -3'
(R):5'- TCTTCAAGGCAGCTGCTTCG -3'

Sequencing Primer
(F):5'- ACGAGTCAACGTATTTTGTTGTCC -3'
(R):5'- CAGCTGCTTCGAGGGGTG -3'

Posted On

2019-10-17