Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Ktn1'

541671

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 #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47648448-47739894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47720256 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1004 (F1004I)

Ref Sequence

ENSEMBL: ENSMUSP00000140178 (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: F1056I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: F1056I

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: F1033I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: F1033I

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: F1004I

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

SMART Domains

Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1004I

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

SMART Domains

Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1027I

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

SMART Domains

Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: F1027I

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: F1004I

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

SMART Domains

Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1056I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: F1056I

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: F1056I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: F1056I

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: F1004I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1033I

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

SMART Domains

Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: F1033I

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: F1004I

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

SMART Domains

Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1004I

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

SMART Domains

Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1027I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: F1027I

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: F1027I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: F1027I

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: F1033I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: F1033I

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: F1004I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: F1004I

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: F1033I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: F1033I

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: F1056I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: F1056I

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: F1033I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: F1033I

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

Meta Mutation Damage Score

0.1458

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	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
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
Z1177:Ktn1	UTSW	14	47692438	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAATGGCAGGTCCCTTTAC -3'
(R):5'- TTACTGTCTGACTACTGAGAAGC -3'

Sequencing Primer
(F):5'- AGGTCCCTTTACTTCTAATGCCAAAG -3'
(R):5'- GTCTGACTACTGAGAAGCACATTAG -3'

Posted On

2018-11-28