Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02973:Krtap4-16'

365899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap4-16

Ensembl Gene

ENSMUSG00000046474

Gene Name

keratin associated protein 4-16

Synonyms

OTTMUSG00000002196

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02973

Quality Score

Status

Chromosome

Chromosomal Location

99741481-99742431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99742167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 78 (C78S)

Ref Sequence

ENSEMBL: ENSMUSP00000103060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107437]

AlphaFold

Q91W93

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083073

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107437
AA Change: C78S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103060
Gene: ENSMUSG00000046474
AA Change: C78S

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	41	8e-7	PFAM
Pfam:Keratin_B2_2	19	63	6.6e-13	PFAM
Pfam:Keratin_B2_2	29	78	3e-8	PFAM
Pfam:Keratin_B2_2	62	98	4.1e-9	PFAM
Pfam:Keratin_B2_2	78	118	6.5e-10	PFAM
Pfam:Keratin_B2_2	96	136	2.4e-10	PFAM
Pfam:Keratin_B2_2	115	157	1.5e-9	PFAM
Pfam:Keratin_B2_2	134	174	7.3e-10	PFAM
Pfam:Keratin_B2_2	168	202	1.6e-7	PFAM

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
Ada	A	G	2: 163,573,053 (GRCm39)	L193P	probably benign	Het
Ago2	A	T	15: 72,995,314 (GRCm39)		probably benign	Het
Ankrd26	A	G	6: 118,500,511 (GRCm39)	S987P	probably damaging	Het
Ap2a2	T	C	7: 141,211,277 (GRCm39)	F938L	possibly damaging	Het
Arhgap35	A	G	7: 16,296,803 (GRCm39)	V754A	possibly damaging	Het
Atp10b	A	T	11: 43,088,336 (GRCm39)	N314I	probably damaging	Het
Atp5f1a	T	C	18: 77,867,849 (GRCm39)	V291A	probably damaging	Het
Ccm2	C	A	11: 6,534,544 (GRCm39)	P19T	probably damaging	Het
Cdc5l	C	A	17: 45,715,573 (GRCm39)	A680S	probably benign	Het
Cds1	A	G	5: 101,960,376 (GRCm39)	T276A	probably damaging	Het
Cit	A	G	5: 116,144,058 (GRCm39)	R1976G	possibly damaging	Het
Col6a5	T	C	9: 105,803,020 (GRCm39)	D1315G	unknown	Het
Emilin1	T	G	5: 31,078,007 (GRCm39)	L922R	probably damaging	Het
Fank1	T	C	7: 133,478,578 (GRCm39)	L213P	probably damaging	Het
Foxc2	T	C	8: 121,844,788 (GRCm39)	S479P	probably benign	Het
Golgb1	G	A	16: 36,732,442 (GRCm39)	R563H	possibly damaging	Het
Hoxb13	A	G	11: 96,085,669 (GRCm39)	Y134C	probably damaging	Het
Lars1	C	T	18: 42,347,824 (GRCm39)		probably null	Het
Lipe	T	C	7: 25,083,057 (GRCm39)	N740S	probably damaging	Het
Mbd1	C	T	18: 74,408,498 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,203,721 (GRCm39)	D1700G	probably damaging	Het
Mpp7	A	G	18: 7,403,297 (GRCm39)	Y338H	probably damaging	Het
Pdgfrl	A	G	8: 41,438,631 (GRCm39)	D189G	probably damaging	Het
Pira12	T	C	7: 3,900,239 (GRCm39)	Y121C	probably damaging	Het
Plxnc1	T	C	10: 94,646,546 (GRCm39)	N1293S	probably damaging	Het
Ppm1e	C	A	11: 87,131,488 (GRCm39)	A302S	probably damaging	Het
Rassf8	A	G	6: 145,762,916 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,990,618 (GRCm39)	W52R	probably damaging	Het
Skint8	T	C	4: 111,796,790 (GRCm39)	V298A	probably benign	Het
Tulp1	A	T	17: 28,577,516 (GRCm39)		probably benign	Het
Unc5c	T	A	3: 141,494,651 (GRCm39)	D321E	probably benign	Het
Usp16	G	A	16: 87,276,627 (GRCm39)	C654Y	probably damaging	Het
Vwce	G	A	19: 10,632,764 (GRCm39)	W575*	probably null	Het
Wdr89	T	G	12: 75,679,873 (GRCm39)	D127A	probably damaging	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp942	A	G	17: 22,151,972 (GRCm39)		probably null	Het

Other mutations in Krtap4-16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Krtap4-16	APN	11	99,742,032 (GRCm39)	missense	possibly damaging	0.86
IGL02750:Krtap4-16	APN	11	99,742,106 (GRCm39)	missense	possibly damaging	0.71
IGL03236:Krtap4-16	APN	11	99,741,962 (GRCm39)	missense	unknown
IGL02837:Krtap4-16	UTSW	11	99,741,863 (GRCm39)	missense	unknown
R1803:Krtap4-16	UTSW	11	99,741,998 (GRCm39)	missense	possibly damaging	0.93
R1959:Krtap4-16	UTSW	11	99,742,373 (GRCm39)	missense	unknown
R1986:Krtap4-16	UTSW	11	99,742,322 (GRCm39)	missense	unknown
R5818:Krtap4-16	UTSW	11	99,742,349 (GRCm39)	missense	unknown
R6283:Krtap4-16	UTSW	11	99,741,861 (GRCm39)	missense	unknown
R9643:Krtap4-16	UTSW	11	99,742,271 (GRCm39)	missense	unknown

Posted On

2015-12-18