Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Krtap31-1'

243257

Institutional Source

Beutler Lab

Gene Symbol

Krtap31-1

Ensembl Gene

ENSMUSG00000070334

Gene Name

keratin associated protein 31-1

Synonyms

4733401H21Rik

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R2284 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

99798746-99799716 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 99799081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 95 (Q95*)

Ref Sequence

ENSEMBL: ENSMUSP00000091467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093935]

AlphaFold

Q9D644

Predicted Effect

probably null
Transcript: ENSMUST00000093935
AA Change: Q95*

SMART Domains

Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: Q95*

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
Pfam:Keratin_B2_2	64	107	1.9e-9	PFAM
Pfam:Keratin_B2_2	111	157	2.4e-6	PFAM

Meta Mutation Damage Score

0.9689

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 22,976,237 (GRCm39)	Q213*	probably null	Het
Adsl	C	T	15: 80,848,096 (GRCm39)	P278L	probably damaging	Het
Bcas2	T	C	3: 103,085,678 (GRCm39)	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,444,099 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,491,193 (GRCm39)		probably benign	Het
Csl	T	A	10: 99,594,321 (GRCm39)	D248V	possibly damaging	Het
Dip2a	A	C	10: 76,149,027 (GRCm39)	V247G	probably benign	Het
Fat2	T	C	11: 55,173,186 (GRCm39)	D2509G	probably damaging	Het
Gldn	G	A	9: 54,193,849 (GRCm39)	W14*	probably null	Het
Gm5698	C	T	1: 31,016,964 (GRCm39)	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,945,415 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,246,025 (GRCm39)	D761G	probably benign	Het
Hdac10	T	C	15: 89,011,607 (GRCm39)	Q159R	probably benign	Het
Hhatl	T	C	9: 121,618,648 (GRCm39)	Y118C	probably damaging	Het
Iho1	C	T	9: 108,298,672 (GRCm39)	E49K	probably damaging	Het
Klrd1	A	G	6: 129,575,344 (GRCm39)	H127R	probably benign	Het
Map2	C	T	1: 66,453,227 (GRCm39)	P548S	probably damaging	Het
Mki67	A	G	7: 135,301,674 (GRCm39)	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Muc6	T	C	7: 141,217,837 (GRCm39)	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,047,110 (GRCm39)	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,343,581 (GRCm39)	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,477,135 (GRCm39)	N803K	probably damaging	Het
Or5l14	A	G	2: 87,793,137 (GRCm39)	L33P	probably damaging	Het
Ptpre	A	G	7: 135,271,510 (GRCm39)	H375R	probably benign	Het
Tsc1	G	A	2: 28,555,109 (GRCm39)	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,821,681 (GRCm39)	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,181,600 (GRCm39)	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,488,765 (GRCm39)	N88K	probably benign	Het
Wt1	A	G	2: 105,002,666 (GRCm39)	T511A	probably benign	Het

Other mutations in Krtap31-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1608:Krtap31-1	UTSW	11	99,798,919 (GRCm39)	missense	probably benign	0.18
R2343:Krtap31-1	UTSW	11	99,798,847 (GRCm39)	missense	possibly damaging	0.86
R4072:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4074:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4076:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4086:Krtap31-1	UTSW	11	99,799,145 (GRCm39)	missense	possibly damaging	0.93
R4884:Krtap31-1	UTSW	11	99,799,310 (GRCm39)	missense	unknown
R7644:Krtap31-1	UTSW	11	99,799,048 (GRCm39)	missense	possibly damaging	0.71
R7670:Krtap31-1	UTSW	11	99,799,258 (GRCm39)	missense	not run
R7897:Krtap31-1	UTSW	11	99,798,949 (GRCm39)	missense	possibly damaging	0.73
R7949:Krtap31-1	UTSW	11	99,799,144 (GRCm39)	missense	possibly damaging	0.71
R8158:Krtap31-1	UTSW	11	99,798,901 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GAATCCAGCTCTGAATCCAGCTG -3'
(R):5'- TGGTTATCAGCGGCAGATGG -3'

Sequencing Primer
(F):5'- TGAATCCAGCTGCCCTGTG -3'
(R):5'- GCAGATGGGCACACACAGC -3'

Posted On

2014-10-16