Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Klhl31'

78748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl31

Ensembl Gene

ENSMUSG00000044938

Gene Name

kelch-like 31

Synonyms

9830147P19Rik, Kbtbd1, D930047P17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

77544014-77567407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77558013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 243 (F243S)

Ref Sequence

ENSEMBL: ENSMUSP00000059643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057781]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057781
AA Change: F243S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: F243S

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
low complexity region	30	44	N/A	INTRINSIC
BTB	73	167	3.39e-18	SMART
BACK	172	273	1.91e-25	SMART
Kelch	317	365	5.58e-1	SMART
Kelch	366	419	4.98e-4	SMART
Kelch	420	466	1.05e-11	SMART
Kelch	467	513	4.01e-8	SMART
Kelch	514	565	1.41e-3	SMART
Kelch	566	614	1.1e0	SMART
low complexity region	617	633	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,460,108 (GRCm39)	V196D	probably damaging	Het
Ago1	C	T	4: 126,353,610 (GRCm39)	V279M	probably damaging	Het
Bltp1	T	C	3: 37,027,601 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,966 (GRCm39)	D675G	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,708 (GRCm39)	Y291N	probably damaging	Het
Cdca5	T	C	19: 6,140,312 (GRCm39)	S158P	probably damaging	Het
Cdh8	A	G	8: 99,760,021 (GRCm39)	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,953,640 (GRCm39)		probably null	Het
Cyc1	C	T	15: 76,229,162 (GRCm39)	R143*	probably null	Het
Dcaf6	A	T	1: 165,216,293 (GRCm39)	S437T	probably benign	Het
Eif5b	A	G	1: 38,075,179 (GRCm39)	D552G	probably benign	Het
Epor	T	C	9: 21,870,593 (GRCm39)	D429G	probably damaging	Het
Farp2	A	G	1: 93,531,181 (GRCm39)	I560V	possibly damaging	Het
Fbxw21	T	A	9: 108,975,713 (GRCm39)	R228*	probably null	Het
Fyb1	T	C	15: 6,609,801 (GRCm39)	S125P	probably benign	Het
Gfm1	A	T	3: 67,382,086 (GRCm39)	Y720F	probably damaging	Het
Hspbap1	T	A	16: 35,645,681 (GRCm39)	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,090,153 (GRCm39)	R285G	probably damaging	Het
Kif12	G	A	4: 63,088,962 (GRCm39)	T153I	probably damaging	Het
Large2	A	G	2: 92,199,676 (GRCm39)	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,491,550 (GRCm39)	V239A	probably damaging	Het
Mblac2	G	A	13: 81,898,266 (GRCm39)	R214H	probably damaging	Het
Mlf2	A	G	6: 124,911,654 (GRCm39)	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,519,483 (GRCm39)	Y134*	probably null	Het
Mtus1	T	C	8: 41,536,172 (GRCm39)	K515E	possibly damaging	Het
Nek1	A	G	8: 61,542,490 (GRCm39)	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241 (GRCm39)	N305S	probably benign	Het
Nrxn3	T	A	12: 89,499,782 (GRCm39)		probably null	Het
Nsf	T	C	11: 103,763,473 (GRCm39)	D377G	probably damaging	Het
Pde4b	A	G	4: 102,344,599 (GRCm39)	E102G	probably damaging	Het
Pdlim4	G	T	11: 53,947,130 (GRCm39)	S56R	probably benign	Het
Poc5	T	C	13: 96,538,139 (GRCm39)	V268A	probably benign	Het
Sec23b	A	C	2: 144,401,157 (GRCm39)	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,424,048 (GRCm39)		probably benign	Het
Slc16a12	T	A	19: 34,650,084 (GRCm39)	N317I	possibly damaging	Het
Slc1a7	A	T	4: 107,850,162 (GRCm39)	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,473,173 (GRCm39)	S86A	probably benign	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,636 (GRCm39)	S16P	probably benign	Het
Tmtc1	A	C	6: 148,147,285 (GRCm39)	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,321,371 (GRCm39)	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,288,855 (GRCm39)	D215E	probably damaging	Het

Other mutations in Klhl31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Klhl31	APN	9	77,557,542 (GRCm39)	missense	possibly damaging	0.88
IGL01939:Klhl31	APN	9	77,562,488 (GRCm39)	missense	probably benign	0.01
IGL02806:Klhl31	APN	9	77,563,056 (GRCm39)	missense	probably damaging	0.97
IGL03377:Klhl31	APN	9	77,558,345 (GRCm39)	nonsense	probably null
itty	UTSW	9	77,558,091 (GRCm39)	missense	probably damaging	1.00
R0399:Klhl31	UTSW	9	77,557,935 (GRCm39)	missense	probably benign	0.05
R1596:Klhl31	UTSW	9	77,557,356 (GRCm39)	missense	probably damaging	0.97
R1598:Klhl31	UTSW	9	77,558,298 (GRCm39)	missense	possibly damaging	0.92
R2199:Klhl31	UTSW	9	77,557,383 (GRCm39)	missense	probably damaging	1.00
R2265:Klhl31	UTSW	9	77,557,440 (GRCm39)	missense	possibly damaging	0.82
R2269:Klhl31	UTSW	9	77,557,440 (GRCm39)	missense	possibly damaging	0.82
R3619:Klhl31	UTSW	9	77,562,758 (GRCm39)	missense	probably benign	0.00
R4197:Klhl31	UTSW	9	77,558,091 (GRCm39)	missense	probably damaging	1.00
R4279:Klhl31	UTSW	9	77,563,121 (GRCm39)	missense	unknown
R5195:Klhl31	UTSW	9	77,557,572 (GRCm39)	missense	possibly damaging	0.56
R5912:Klhl31	UTSW	9	77,563,012 (GRCm39)	missense	probably damaging	1.00
R7516:Klhl31	UTSW	9	77,558,429 (GRCm39)	missense	probably damaging	1.00
R7956:Klhl31	UTSW	9	77,557,903 (GRCm39)	missense	probably benign
R7967:Klhl31	UTSW	9	77,557,430 (GRCm39)	missense	probably damaging	1.00
R8766:Klhl31	UTSW	9	77,557,445 (GRCm39)	missense	possibly damaging	0.95
R9079:Klhl31	UTSW	9	77,558,151 (GRCm39)	missense	probably damaging	1.00
R9206:Klhl31	UTSW	9	77,558,389 (GRCm39)	nonsense	probably null
R9387:Klhl31	UTSW	9	77,557,826 (GRCm39)	missense	probably benign	0.25

Posted On

2013-11-05