Mutagenetix > Incidental Mutation

Incidental Mutation 'R7450:Krtap1-3'

577659

Institutional Source

Beutler Lab

Gene Symbol

Krtap1-3

Ensembl Gene

ENSMUSG00000078131

Gene Name

keratin associated protein 1-3

Synonyms

OTTMUSG00000004964

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99481287-99482165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99481697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 150 (C150F)

Ref Sequence

ENSEMBL: ENSMUSP00000100535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104930]

AlphaFold

A2A588

Predicted Effect

unknown
Transcript: ENSMUST00000104930
AA Change: C150F

SMART Domains

Protein: ENSMUSP00000100535
Gene: ENSMUSG00000078131
AA Change: C150F

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	55	4.7e-7	PFAM
Pfam:Keratin_B2	1	173	2.4e-58	PFAM
Pfam:Keratin_B2_2	49	91	7.1e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,331,977 (GRCm39)	R746W	possibly damaging	Het
Abcc2	T	C	19: 43,810,478 (GRCm39)	L925P	probably damaging	Het
Abcc3	A	T	11: 94,252,521 (GRCm39)	H787Q	probably damaging	Het
Acly	A	T	11: 100,370,101 (GRCm39)	V987E	probably damaging	Het
Afg2a	T	C	3: 37,510,934 (GRCm39)	L697S	probably damaging	Het
Cacna1b	A	T	2: 24,525,147 (GRCm39)	Y1676*	probably null	Het
Ccdc168	A	G	1: 44,097,933 (GRCm39)	V1055A	probably benign	Het
Ccdc175	T	A	12: 72,202,447 (GRCm39)	I283F	possibly damaging	Het
Cfap46	A	T	7: 139,197,353 (GRCm39)	F2173I	unknown	Het
Cln6	G	A	9: 62,757,912 (GRCm39)	E224K	probably damaging	Het
Cyp1a1	T	A	9: 57,609,415 (GRCm39)	L372Q	probably damaging	Het
Dnah8	T	A	17: 31,006,165 (GRCm39)	I3694N	probably damaging	Het
Dnal1	T	C	12: 84,171,297 (GRCm39)	Y31H	probably benign	Het
Eid3	T	A	10: 82,702,737 (GRCm39)	M66K	probably benign	Het
Epo	T	A	5: 137,481,497 (GRCm39)	E143D	probably damaging	Het
Fbxo25	C	A	8: 13,981,235 (GRCm39)	N236K	probably benign	Het
Fsip2	A	G	2: 82,782,024 (GRCm39)	I266V	probably benign	Het
Galnt6	T	C	15: 100,595,696 (GRCm39)	Y444C	probably damaging	Het
Gna11	T	C	10: 81,368,356 (GRCm39)	Y160C		Het
Hectd4	A	T	5: 121,419,995 (GRCm39)	T647S	probably benign	Het
Hgd	T	C	16: 37,444,686 (GRCm39)	V316A	possibly damaging	Het
Idh3a	T	C	9: 54,503,367 (GRCm39)	V142A	probably damaging	Het
Il3ra	T	A	14: 14,351,090 (GRCm38)	I297N	probably benign	Het
Kcnj5	T	G	9: 32,233,491 (GRCm39)	I275L	possibly damaging	Het
Kdm7a	A	T	6: 39,120,185 (GRCm39)	L928Q	probably damaging	Het
Kmo	A	G	1: 175,466,666 (GRCm39)	I75V	probably benign	Het
Lingo3	C	A	10: 80,670,671 (GRCm39)	E420*	probably null	Het
Lrrc37a	A	G	11: 103,389,152 (GRCm39)	V2091A	probably benign	Het
N4bp2	T	A	5: 65,982,643 (GRCm39)	Y1632*	probably null	Het
Nlrp1a	C	A	11: 70,998,484 (GRCm39)	G905V	probably damaging	Het
Nlrp9c	T	A	7: 26,064,364 (GRCm39)	E988V	probably benign	Het
Nol8	T	G	13: 49,813,491 (GRCm39)	H179Q	probably benign	Het
Notch3	G	A	17: 32,360,365 (GRCm39)	P1522L	possibly damaging	Het
Nup210l	T	C	3: 90,022,495 (GRCm39)		probably null	Het
Oas1b	T	A	5: 120,959,321 (GRCm39)	Y234*	probably null	Het
Or10al7	T	C	17: 38,366,000 (GRCm39)	I152M	probably benign	Het
Or12d17	C	A	17: 37,777,507 (GRCm39)	Q137K	probably benign	Het
Or12e14	A	C	2: 87,676,803 (GRCm39)	K63Q	probably damaging	Het
Or13c9	T	A	4: 52,936,113 (GRCm39)	K57*	probably null	Het
Or6c1b	A	C	10: 129,273,298 (GRCm39)	M206L	probably benign	Het
Pag1	T	C	3: 9,764,599 (GRCm39)	T185A	probably damaging	Het
Palmd	A	T	3: 116,721,292 (GRCm39)	S100T	probably damaging	Het
Papln	C	A	12: 83,826,945 (GRCm39)	A690E	probably benign	Het
Pcdhga7	C	T	18: 37,849,079 (GRCm39)	T362M	probably benign	Het
Pmpcb	T	A	5: 21,951,983 (GRCm39)	V286E	possibly damaging	Het
Pon3	T	C	6: 5,236,940 (GRCm39)	I142M	possibly damaging	Het
Prdx6	A	G	1: 161,069,386 (GRCm39)	S194P	probably benign	Het
Rapgef2	T	C	3: 79,080,366 (GRCm39)	E112G	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rps6kb1	T	A	11: 86,393,657 (GRCm39)	E491V	probably benign	Het
Sema3d	C	T	5: 12,634,901 (GRCm39)	Q656*	probably null	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc16a7	G	T	10: 125,063,920 (GRCm39)	H472Q	probably benign	Het
Slc49a4	T	C	16: 35,589,344 (GRCm39)	I90V	possibly damaging	Het
Slc9a2	A	G	1: 40,720,995 (GRCm39)		probably benign	Het
Smad4	A	G	18: 73,810,924 (GRCm39)	V20A	probably damaging	Het
Sstr3	G	A	15: 78,424,043 (GRCm39)	R235W	probably damaging	Het
Svep1	T	A	4: 58,064,248 (GRCm39)	H3245L	possibly damaging	Het
Tra2a	G	A	6: 49,227,919 (GRCm39)	R70*	probably null	Het
Trav7-4	G	T	14: 53,698,924 (GRCm39)	V24L	probably benign	Het
Tsc2	C	A	17: 24,819,005 (GRCm39)	S1278I	probably damaging	Het
Ubtf	A	G	11: 102,197,475 (GRCm39)	S726P	unknown	Het
Vmn2r42	A	T	7: 8,187,220 (GRCm39)	Y851N	probably benign	Het
Wwp1	A	G	4: 19,640,016 (GRCm39)	Y509H	probably damaging	Het
Xirp2	A	C	2: 67,340,159 (GRCm39)	Q800P	possibly damaging	Het
Zc3h7b	T	C	15: 81,667,281 (GRCm39)	F609L	probably benign	Het
Zdhhc8	G	T	16: 18,043,035 (GRCm39)	H388Q	probably benign	Het
Zfp1004	A	G	2: 150,035,046 (GRCm39)	T456A	probably benign	Het
Zfp644	T	C	5: 106,786,392 (GRCm39)	K52E	probably benign	Het
Zfp82	T	G	7: 29,756,320 (GRCm39)	E254A	probably damaging	Het

Other mutations in Krtap1-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Krtap1-3	APN	11	99,481,680 (GRCm39)	missense	unknown
R2509:Krtap1-3	UTSW	11	99,481,653 (GRCm39)	missense	unknown
R4840:Krtap1-3	UTSW	11	99,481,715 (GRCm39)	missense	possibly damaging	0.93
R9188:Krtap1-3	UTSW	11	99,481,887 (GRCm39)	missense	unknown
Z1176:Krtap1-3	UTSW	11	99,481,821 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AGAGGATATCAAAGCCTTTCCAG -3'
(R):5'- TGCTGCCAATCCAGTTGCTG -3'

Sequencing Primer
(F):5'- CAAAGCCTTTCCAGTATTAGATGG -3'
(R):5'- TGCTCCCAGACCAGCTGTTG -3'

Posted On

2019-10-07