Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01503:Krtcap3'

88964

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtcap3

Ensembl Gene

ENSMUSG00000029149

Gene Name

keratinocyte associated protein 3

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01503

Quality Score

Status

Chromosome

Chromosomal Location

31251691-31253202 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (9 bp from exon)

DNA Base Change (assembly)

T to C at 31251823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201625] [ENSMUST00000201937] [ENSMUST00000202576] [ENSMUST00000202505]

AlphaFold

Q8K177

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000054829

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114570

SMART Domains

Protein: ENSMUSP00000110217
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

probably benign
Transcript: ENSMUST00000201625

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

probably benign
Transcript: ENSMUST00000201937

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202505

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
STYKc	14	184	1.3e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	A	16: 89,174,869	Y26*	probably null	Het
Arpc1a	T	C	5: 145,096,154	V91A	probably damaging	Het
Atp2a1	T	A	7: 126,448,578	I687F	probably damaging	Het
B3gnt5	A	C	16: 19,769,781	Y250S	probably damaging	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
C1s2	T	C	6: 124,625,653	D527G	probably damaging	Het
Chrna5	T	A	9: 54,998,171		probably benign	Het
Cltc	C	A	11: 86,695,700		probably benign	Het
Dgkh	T	G	14: 78,616,270	I439L	possibly damaging	Het
Dnajc16	G	A	4: 141,763,697	T714I	possibly damaging	Het
Fam13a	A	T	6: 58,956,080	I349N	probably damaging	Het
Fig4	C	T	10: 41,256,518	D431N	probably benign	Het
Gabra4	A	T	5: 71,641,086	N183K	possibly damaging	Het
Ggt5	C	T	10: 75,610,110		probably benign	Het
Gm436	T	A	4: 144,674,567	I116F	probably damaging	Het
Hdac6	A	G	X: 7,932,179	L798P	probably damaging	Het
Hectd4	T	C	5: 121,318,651	V2030A	probably benign	Het
Hecw2	A	G	1: 53,826,961	Y1514H	probably damaging	Het
Hmcn1	T	C	1: 150,605,072	D4451G	probably benign	Het
Ltn1	A	T	16: 87,420,807		probably benign	Het
Mapkapk2	T	C	1: 131,058,762	M1V	probably null	Het
Mical3	A	T	6: 120,958,576	I1663N	probably benign	Het
Mvp	G	T	7: 127,001,961		probably benign	Het
Myo5c	A	G	9: 75,263,042	I485V	probably damaging	Het
N4bp2	T	A	5: 65,803,547	C520*	probably null	Het
Nos2	A	G	11: 78,945,863		probably benign	Het
Ogdh	G	A	11: 6,355,069	V925M	probably damaging	Het
Pde2a	T	A	7: 101,501,936		probably benign	Het
Plpp6	A	G	19: 28,964,879	*293W	probably null	Het
Pole	T	A	5: 110,303,884	I864K	probably damaging	Het
Rexo4	A	T	2: 26,960,633	I239N	probably benign	Het
Scn1a	T	A	2: 66,322,343	I748F	probably damaging	Het
Sfmbt2	A	T	2: 10,579,354	R841*	probably null	Het
Sh3bp5l	A	G	11: 58,338,001	N100S	probably damaging	Het
Spic	T	A	10: 88,675,761	D211V	probably damaging	Het
Stab2	A	G	10: 86,940,613		probably benign	Het
Tshr	A	G	12: 91,511,934	Y83C	probably damaging	Het
Vsir	A	G	10: 60,368,594	E172G	probably damaging	Het
Wwp2	T	C	8: 107,549,781	S508P	probably damaging	Het

Other mutations in Krtcap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Krtcap3	APN	5	31252053	missense	probably damaging	1.00
R0021:Krtcap3	UTSW	5	31252959	missense	probably benign	0.00
R0021:Krtcap3	UTSW	5	31252959	missense	probably benign	0.00
R0553:Krtcap3	UTSW	5	31251803	missense	probably benign	0.00
R6258:Krtcap3	UTSW	5	31252228	missense	probably damaging	0.99
R7418:Krtcap3	UTSW	5	31252537	missense	probably benign	0.45
R7655:Krtcap3	UTSW	5	31252560	missense	probably damaging	1.00
R7656:Krtcap3	UTSW	5	31252560	missense	probably damaging	1.00
R7954:Krtcap3	UTSW	5	31252671	missense	probably damaging	1.00

Posted On

2013-12-03