Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Krt31'

287869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt31

Ensembl Gene

ENSMUSG00000048981

Gene Name

keratin 31

Synonyms

Ha1, Kha1, Krt1-1, MKHA-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

100046646-100050551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100048396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 232 (Y232H)

Ref Sequence

ENSEMBL: ENSMUSP00000007318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007318]

AlphaFold

Q61765

Predicted Effect

probably damaging
Transcript: ENSMUST00000007318
AA Change: Y232H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007318
Gene: ENSMUSG00000048981
AA Change: Y232H

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Filament	55	366	2.14e-153	SMART
low complexity region	384	411	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136820

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Krt31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02433:Krt31	APN	11	100048395	missense	probably damaging	1.00
R0393:Krt31	UTSW	11	100050253	missense	probably damaging	1.00
R0667:Krt31	UTSW	11	100048125	missense	probably benign	0.02
R1224:Krt31	UTSW	11	100049864	critical splice donor site	probably null
R1544:Krt31	UTSW	11	100047873	missense	possibly damaging	0.48
R1891:Krt31	UTSW	11	100047808	missense	probably damaging	0.98
R1940:Krt31	UTSW	11	100048243	missense	probably benign	0.03
R1987:Krt31	UTSW	11	100049580	missense	probably benign	0.00
R2761:Krt31	UTSW	11	100047865	missense	probably benign	0.01
R2870:Krt31	UTSW	11	100047873	missense	possibly damaging	0.82
R2870:Krt31	UTSW	11	100047873	missense	possibly damaging	0.82
R3980:Krt31	UTSW	11	100048204	missense	probably damaging	0.96
R4809:Krt31	UTSW	11	100049922	missense	possibly damaging	0.89
R4822:Krt31	UTSW	11	100047784	missense	possibly damaging	0.63
R4931:Krt31	UTSW	11	100050157	missense	probably benign	0.05
R6146:Krt31	UTSW	11	100048230	missense	probably benign	0.21
R6722:Krt31	UTSW	11	100048428	missense	probably damaging	1.00
R6811:Krt31	UTSW	11	100048416	missense	probably damaging	1.00
R6996:Krt31	UTSW	11	100047732	missense	probably benign	0.19
R7300:Krt31	UTSW	11	100047786	missense	probably damaging	0.96
R7548:Krt31	UTSW	11	100049520	missense	probably damaging	0.98
R8375:Krt31	UTSW	11	100047777	missense	probably benign	0.10
X0028:Krt31	UTSW	11	100047708	missense	probably damaging	1.00

Posted On

2015-04-16