Mutagenetix > Incidental Mutations

Incidental Mutation 'R7743:Ktn1'

596692

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 #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47648448-47739894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47670293 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 279 (D279G)

Ref Sequence

ENSEMBL: ENSMUSP00000022391 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022391
AA Change: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: D279G

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: ENSMUST00000186627
AA Change: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: D279G

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: ENSMUST00000189533
AA Change: D279G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: D279G

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 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190182
AA Change: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: D279G

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: ENSMUST00000190252
AA Change: D279G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: D279G

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: ENSMUST00000190535
AA Change: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: D279G

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: ENSMUST00000191018
AA Change: D279G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: D279G

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 damaging
Transcript: ENSMUST00000191446
AA Change: D279G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: D279G

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: D279G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: D279G

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,755	E1235G	probably damaging	Het
Adam6a	A	G	12: 113,544,532	D175G	probably benign	Het
Adgrf4	A	T	17: 42,672,562	C76*	probably null	Het
Agbl3	C	T	6: 34,846,830	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,784,763	V488A	not run	Het
Akip1	T	A	7: 109,711,828	S192T	probably benign	Het
Apc2	G	A	10: 80,304,915	M201I	probably damaging	Het
Arel1	G	T	12: 84,940,269	N124K	probably damaging	Het
Atp10a	A	T	7: 58,803,709	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,461,571	Y586H	probably benign	Het
BC051019	A	G	7: 109,716,059	Y330H	probably damaging	Het
Btbd11	A	T	10: 85,624,949	I569F	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Chek2	T	G	5: 110,840,050		probably null	Het
Cldn14	A	G	16: 93,919,727	L77S	probably damaging	Het
Cox15	T	C	19: 43,739,941	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,421,404	D369E	probably benign	Het
Cpxm1	T	C	2: 130,393,422	N550S	probably benign	Het
Csdc2	A	G	15: 81,949,198	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,778,876	C219S	probably damaging	Het
Erbb4	T	C	1: 68,328,119	T480A	probably benign	Het
Fndc1	G	A	17: 7,765,137	T1319I	unknown	Het
Gm5773	T	G	3: 93,773,258	V79G	probably damaging	Het
Hsf2	G	A	10: 57,511,335		probably null	Het
Itgb2l	T	C	16: 96,437,408	T64A	probably damaging	Het
Kifc5b	T	C	17: 26,924,202	V316A	probably damaging	Het
Lonrf1	T	C	8: 36,249,052	E143G	possibly damaging	Het
Mroh9	C	T	1: 163,024,553	E856K	probably benign	Het
Muc16	T	C	9: 18,657,477	T1249A	unknown	Het
Myh6	G	A	14: 54,957,150	R721W	probably damaging	Het
Myo6	A	T	9: 80,276,329	I669F	unknown	Het
N4bp2	A	G	5: 65,808,459	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,638	M1T	probably null	Het
Obscn	C	T	11: 59,099,777	V1657M	probably damaging	Het
Olfr243	A	G	7: 103,717,353	E253G	possibly damaging	Het
Olfr551	A	T	7: 102,588,431	F104Y	probably benign	Het
Olfr908	A	G	9: 38,516,328	T99A	possibly damaging	Het
Otud6b	C	A	4: 14,818,389	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 34,192,831	D204E	probably benign	Het
Pdia2	T	C	17: 26,198,868	S56G	probably benign	Het
Plcxd1	G	A	5: 110,102,503	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,555,986	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,536,594	F937L	possibly damaging	Het
Pth2	A	T	7: 45,181,309	M6L	probably benign	Het
Ptprd	T	A	4: 76,086,089	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,601,601	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,603,949	D300E	probably benign	Het
Rock2	G	A	12: 16,976,047	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,579,932		probably benign	Het
Rtn4	T	A	11: 29,733,790	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,130	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,135,885	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,079,358	V207I	probably damaging	Het
Sipa1l2	T	C	8: 125,464,233	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,683,836	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,316,185	F106I	probably damaging	Het
Snx14	A	T	9: 88,398,349	S518T	probably benign	Het
Sp2	T	C	11: 96,961,109	T330A	probably damaging	Het
Spata13	A	T	14: 60,756,249	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,656,416	V23G	possibly damaging	Het
Syt3	A	T	7: 44,392,667	I317F	probably damaging	Het
Tars	A	C	15: 11,399,372		probably null	Het
Tead3	T	A	17: 28,332,827	T431S	probably benign	Het
Tiam2	G	A	17: 3,518,156	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,521,892	P12L	probably benign	Het
Topaz1	A	G	9: 122,785,136	H1207R	probably benign	Het
Trdn	G	T	10: 33,257,062	E107*	probably null	Het
Trp63	A	G	16: 25,882,625	N483S	probably benign	Het
Trpm4	A	G	7: 45,308,338	S1009P	probably benign	Het
Trpm6	T	C	19: 18,827,408	V908A	probably benign	Het
Tsen34	A	T	7: 3,694,602	M25L	possibly damaging	Het
Ttn	T	C	2: 76,951,483	E1073G	unknown	Het
Uaca	A	T	9: 60,876,395	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,944,449	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,166,395	M115K	probably benign	Het
Unc45b	A	T	11: 82,922,900	I378F	probably damaging	Het
Unk	G	A	11: 116,049,436	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,810,179	L3314Q	probably benign	Het
Vezt	A	G	10: 93,980,424	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,345,798	Q220*	probably null	Het
Yap1	T	C	9: 7,962,378	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,086,728	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,152,935	C374G	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
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
R7513:Ktn1	UTSW	14	47664084	missense	possibly damaging	0.77
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
Z1177:Ktn1	UTSW	14	47692438	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGATACACTACCCATTTAAGATGAC -3'
(R):5'- GGTTGGCAAAATATCAAAGCAC -3'

Sequencing Primer
(F):5'- ATGATGTTCTTTCTTAAGTTGCAGTC -3'
(R):5'- CAAGCCTATCCATCTCATTAGAATAC -3'

Posted On

2019-11-26