Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Krtap14'

73209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap14

Ensembl Gene

ENSMUSG00000074928

Gene Name

keratin associated protein 14

Synonyms

mKAP13, Pmg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

88622179-88623033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88622615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 121 (H121Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023648] [ENSMUST00000099562] [ENSMUST00000187823] [ENSMUST00000189774]

AlphaFold

O08640

Predicted Effect

probably benign
Transcript: ENSMUST00000023648

SMART Domains

Protein: ENSMUSP00000023648
Gene: ENSMUSG00000022931

Domain	Start	End	E-Value	Type
Pfam:PMG	1	126	1.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099562
AA Change: H32Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136883
Gene: ENSMUSG00000074928
AA Change: H32Q

Domain	Start	End	E-Value	Type
Pfam:PMG	1	67	5.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187823

SMART Domains

Protein: ENSMUSP00000140888
Gene: ENSMUSG00000022931

Domain	Start	End	E-Value	Type
Pfam:PMG	1	145	3.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189774
AA Change: H121Q

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139983
Gene: ENSMUSG00000074928
AA Change: H121Q

Domain	Start	End	E-Value	Type
Pfam:PMG	1	166	1.3e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232467

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,169,326 (GRCm39)	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,652,040 (GRCm39)	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,760,544 (GRCm39)	N186T	probably benign	Het
Ank2	A	G	3: 126,753,369 (GRCm39)	V304A	possibly damaging	Het
Atg3	T	C	16: 44,992,036 (GRCm39)	M88T	possibly damaging	Het
Baz1a	G	T	12: 55,001,594 (GRCm39)	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,444,055 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,537,734 (GRCm39)	Y70H	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517 (GRCm39)	W19R	probably damaging	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,738,920 (GRCm39)	D58Y	unknown	Het
Gm7168	A	T	17: 14,170,120 (GRCm39)	T496S	probably benign	Het
Gpc5	A	G	14: 115,636,600 (GRCm39)	S428G	probably benign	Het
Haus8	T	C	8: 71,705,757 (GRCm39)	E309G	probably damaging	Het
Ice1	A	G	13: 70,753,023 (GRCm39)	L1021P	possibly damaging	Het
Nwd1	T	C	8: 73,388,959 (GRCm39)	V170A	probably benign	Het
Or1j10	T	A	2: 36,267,460 (GRCm39)	M224K	probably benign	Het
Or6c3b	T	C	10: 129,527,898 (GRCm39)	Y4C	probably damaging	Het
Or8g24	G	A	9: 38,990,020 (GRCm39)	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,406,037 (GRCm39)	M96T	possibly damaging	Het
Pramel5	A	G	4: 143,997,732 (GRCm39)		probably benign	Het
Proc	T	C	18: 32,256,605 (GRCm39)	N354S	probably benign	Het
Prss40	T	G	1: 34,599,847 (GRCm39)	I47L	probably benign	Het
Tmprss7	T	C	16: 45,484,538 (GRCm39)	R541G	probably benign	Het
Togaram2	T	C	17: 72,023,508 (GRCm39)	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,155,838 (GRCm39)	Y70H	probably damaging	Het
Ttk	C	T	9: 83,747,195 (GRCm39)	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	Het

Other mutations in Krtap14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4810001:Krtap14	UTSW	16	88,622,515 (GRCm39)	missense	probably damaging	1.00
R1471:Krtap14	UTSW	16	88,622,515 (GRCm39)	missense	probably damaging	1.00
R2392:Krtap14	UTSW	16	88,622,597 (GRCm39)	splice site	probably null
R4927:Krtap14	UTSW	16	88,622,919 (GRCm39)	missense	possibly damaging	0.90
R5339:Krtap14	UTSW	16	88,622,747 (GRCm39)	missense	probably benign	0.05
R9442:Krtap14	UTSW	16	88,622,865 (GRCm39)	missense	possibly damaging	0.68

Posted On

2013-10-07