Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00500:Krtap12-1'

4700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap12-1

Ensembl Gene

ENSMUSG00000069583

Gene Name

keratin associated protein 12-1

Synonyms

D10Jhu14e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL00500

Quality Score

Status

Chromosome

Chromosomal Location

77556433-77557088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77556814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 119 (C119F)

Ref Sequence

ENSEMBL: ENSMUSP00000090024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]

AlphaFold

Q9Z287

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092370
AA Change: C119F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583
AA Change: C119F

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	42	3.1e-6	PFAM
Pfam:Keratin_B2_2	20	68	3.1e-10	PFAM
Pfam:Keratin_B2_2	39	84	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179767

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.7e-8	PFAM
Pfam:Keratin_B2_2	29	74	1.8e-9	PFAM
low complexity region	88	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218482

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,383,567 (GRCm39)	E576G	probably damaging	Het
Adnp	A	G	2: 168,025,243 (GRCm39)	V684A	possibly damaging	Het
Agl	A	G	3: 116,566,469 (GRCm39)	W965R	probably damaging	Het
AI467606	G	A	7: 126,691,505 (GRCm39)	V27I	probably benign	Het
Ankrd34b	G	A	13: 92,575,295 (GRCm39)	G176R	probably benign	Het
Atp2a1	C	T	7: 126,046,388 (GRCm39)	W72*	probably null	Het
Atp6v1a	T	C	16: 43,931,946 (GRCm39)	Q114R	probably benign	Het
B4galt2	A	T	4: 117,734,378 (GRCm39)	L257Q	probably damaging	Het
Chrna10	A	T	7: 101,761,615 (GRCm39)	C325*	probably null	Het
Clip2	A	G	5: 134,529,011 (GRCm39)		probably benign	Het
Crocc2	C	T	1: 93,144,766 (GRCm39)	Q1437*	probably null	Het
Csmd1	C	T	8: 15,971,139 (GRCm39)	V3059M	probably damaging	Het
Cst5	C	A	2: 149,247,501 (GRCm39)	S72R	probably damaging	Het
Dapk1	A	G	13: 60,908,618 (GRCm39)	D1077G	probably damaging	Het
Dhx9	T	C	1: 153,341,494 (GRCm39)	T585A	probably damaging	Het
Fam210a	G	A	18: 68,408,854 (GRCm39)	T152I	possibly damaging	Het
Fbn1	T	A	2: 125,159,436 (GRCm39)	Q2214L	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
G2e3	A	G	12: 51,400,581 (GRCm39)		probably null	Het
Gcdh	C	T	8: 85,615,146 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,319 (GRCm39)		probably benign	Het
Itgb2	T	A	10: 77,400,558 (GRCm39)	W724R	probably damaging	Het
Klhl2	T	C	8: 65,202,120 (GRCm39)	T519A	probably benign	Het
Nrap	T	A	19: 56,361,341 (GRCm39)	K369N	probably damaging	Het
Nrg1	T	A	8: 32,312,342 (GRCm39)		probably null	Het
Plekhh3	T	A	11: 101,056,519 (GRCm39)		probably null	Het
Ppm1b	A	G	17: 85,310,712 (GRCm39)	S289G	probably damaging	Het
Prol1	A	T	5: 88,476,550 (GRCm39)	*313C	probably null	Het
Rab40c	T	C	17: 26,104,059 (GRCm39)	E111G	probably damaging	Het
Skint11	T	A	4: 114,051,906 (GRCm39)	C85S	probably benign	Het
Slc9a2	G	A	1: 40,802,743 (GRCm39)	E598K	possibly damaging	Het
Slfn8	T	A	11: 82,904,310 (GRCm39)	D360V	possibly damaging	Het
Sspo	C	A	6: 48,474,355 (GRCm39)	C4925*	probably null	Het
Vps8	A	G	16: 21,261,084 (GRCm39)	T75A	possibly damaging	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp608	T	A	18: 55,121,405 (GRCm39)	T61S	probably benign	Het

Other mutations in Krtap12-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Krtap12-1	APN	10	77,556,823 (GRCm39)	missense	probably damaging	0.98
R1739:Krtap12-1	UTSW	10	77,556,826 (GRCm39)	missense	possibly damaging	0.79
R3767:Krtap12-1	UTSW	10	77,556,729 (GRCm39)	missense	probably benign	0.07
R3768:Krtap12-1	UTSW	10	77,556,729 (GRCm39)	missense	probably benign	0.07
R3770:Krtap12-1	UTSW	10	77,556,729 (GRCm39)	missense	probably benign	0.07
R5284:Krtap12-1	UTSW	10	77,556,799 (GRCm39)	missense	possibly damaging	0.73
R6654:Krtap12-1	UTSW	10	77,556,537 (GRCm39)	unclassified	probably benign
R9128:Krtap12-1	UTSW	10	77,556,623 (GRCm39)	nonsense	probably null

Posted On

2012-04-20