Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01939:Klhl31'

180819

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 #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

77544014-77567407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77562488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 418 (N418D)

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: N418D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: N418D

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,885,925 (GRCm39)	D22Y	probably damaging	Het
Ak7	T	C	12: 105,701,183 (GRCm39)	V242A	probably benign	Het
Cacna1b	T	C	2: 24,551,769 (GRCm39)	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,976,380 (GRCm39)	H267L	probably benign	Het
Ces1b	C	T	8: 93,806,059 (GRCm39)	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,632,286 (GRCm39)	D355V	probably damaging	Het
Col24a1	T	C	3: 145,021,005 (GRCm39)	S459P	probably damaging	Het
Crygd	T	C	1: 65,101,185 (GRCm39)	T137A	probably benign	Het
Dctn4	T	A	18: 60,677,202 (GRCm39)	M174K	probably benign	Het
Evi5	A	G	5: 107,964,790 (GRCm39)		probably benign	Het
Fat2	T	G	11: 55,174,806 (GRCm39)	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,353,606 (GRCm39)	E317V	probably damaging	Het
Foxf2	G	T	13: 31,810,697 (GRCm39)	S212I	probably damaging	Het
Gm21759	T	A	5: 8,230,685 (GRCm39)		probably benign	Het
Gm5414	A	G	15: 101,534,105 (GRCm39)		probably benign	Het
Gm7275	T	C	16: 47,893,946 (GRCm39)		noncoding transcript	Het
Hspa9	T	C	18: 35,071,761 (GRCm39)	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,501,168 (GRCm39)	I515V	possibly damaging	Het
Ins1	G	T	19: 52,253,173 (GRCm39)	A38S	probably damaging	Het
Magi3	T	C	3: 103,961,778 (GRCm39)	K417E	probably damaging	Het
Msh4	A	G	3: 153,563,226 (GRCm39)	Y823H	probably damaging	Het
Myo6	T	A	9: 80,168,100 (GRCm39)	D421E	probably damaging	Het
Myom3	T	C	4: 135,492,900 (GRCm39)	S150P	possibly damaging	Het
Nectin1	C	T	9: 43,703,871 (GRCm39)		probably benign	Het
Nkx1-2	A	T	7: 132,201,203 (GRCm39)	I18N	probably damaging	Het
Or4s2b	A	G	2: 88,509,077 (GRCm39)	T286A	probably damaging	Het
Or5b113	A	T	19: 13,342,807 (GRCm39)	I272F	probably benign	Het
Or8g33	A	C	9: 39,337,634 (GRCm39)	H244Q	probably damaging	Het
Or9g4	T	C	2: 85,505,285 (GRCm39)	D70G	probably damaging	Het
Pde8b	T	C	13: 95,232,232 (GRCm39)	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,822,167 (GRCm39)	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,655,420 (GRCm39)	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,370,158 (GRCm39)		probably benign	Het
Rabggtb	A	G	3: 153,617,650 (GRCm39)	V16A	probably damaging	Het
Rangap1	A	T	15: 81,604,864 (GRCm39)	C82S	probably damaging	Het
Rasal2	T	C	1: 157,003,480 (GRCm39)	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,856,889 (GRCm39)	E449V	probably damaging	Het
Rrp12	A	T	19: 41,859,334 (GRCm39)	H1143Q	probably damaging	Het
Scap	T	C	9: 110,208,549 (GRCm39)	I530T	probably benign	Het
Sel1l	T	A	12: 91,783,021 (GRCm39)	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,223,648 (GRCm39)	M280T	probably damaging	Het
Slc39a10	T	A	1: 46,871,895 (GRCm39)	H348L	probably benign	Het
Slc7a2	T	C	8: 41,367,120 (GRCm39)	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,396,488 (GRCm39)	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,665,781 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,365,262 (GRCm39)		probably null	Het
Tpo	T	C	12: 30,134,646 (GRCm39)	T771A	possibly damaging	Het
Tpr	G	A	1: 150,289,496 (GRCm39)	R609H	possibly damaging	Het
Usp34	T	A	11: 23,295,141 (GRCm39)		probably benign	Het
Vmn1r193	G	T	13: 22,403,893 (GRCm39)	S33*	probably null	Het
Vmn2r104	A	C	17: 20,250,187 (GRCm39)	S695A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r24	A	G	6: 123,764,404 (GRCm39)	D427G	probably benign	Het
Zfp362	A	G	4: 128,680,846 (GRCm39)	S160P	probably benign	Het

Other mutations in Klhl31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Klhl31	APN	9	77,558,013 (GRCm39)	missense	probably benign	0.00
IGL01443:Klhl31	APN	9	77,557,542 (GRCm39)	missense	possibly damaging	0.88
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

2014-05-07