Mutagenetix > Incidental Mutation

Incidental Mutation 'R5912:Klhl31'

461064

Institutional Source

Beutler Lab

Gene Symbol

Klhl31

Ensembl Gene

ENSMUSG00000044938

Gene Name

kelch-like 31

Synonyms

9830147P19Rik, Kbtbd1, D930047P17Rik

MMRRC Submission

044109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5912 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

77544014-77567407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77563012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 592 (N592K)

Ref Sequence

ENSEMBL: ENSMUSP00000059643 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057781
AA Change: N592K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: N592K

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

Meta Mutation Damage Score

0.4243

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,897 (GRCm39)	C166S	possibly damaging	Het
Ahnak	T	A	19: 8,989,267 (GRCm39)	M3517K	probably damaging	Het
Asap2	T	C	12: 21,256,344 (GRCm39)	V214A	probably damaging	Het
Atp13a4	A	G	16: 29,275,389 (GRCm39)	V365A	probably benign	Het
Bivm	G	T	1: 44,165,573 (GRCm39)	G8*	probably null	Het
Cc2d2a	A	C	5: 43,877,772 (GRCm39)	D1043A	probably damaging	Het
Cdh2	A	C	18: 16,773,507 (GRCm39)	I331S	possibly damaging	Het
Clip3	A	C	7: 29,998,295 (GRCm39)	D247A	probably benign	Het
Csf3r	A	T	4: 125,923,753 (GRCm39)	I88F	probably damaging	Het
Cyp2j13	A	T	4: 95,945,079 (GRCm39)	N316K	probably damaging	Het
Dnah12	T	A	14: 26,491,965 (GRCm39)	C1133*	probably null	Het
Glud1	G	A	14: 34,033,300 (GRCm39)		probably null	Het
Gm5805	A	G	15: 81,857,018 (GRCm39)		noncoding transcript	Het
Gsg1l2	G	T	11: 67,665,540 (GRCm39)		probably null	Het
Ikzf1	C	A	11: 11,698,464 (GRCm39)	S105*	probably null	Het
Kif18b	A	G	11: 102,803,817 (GRCm39)	S448P	probably benign	Het
Kmt2c	A	G	5: 25,552,467 (GRCm39)	F1239L	possibly damaging	Het
Lama5	A	G	2: 179,837,268 (GRCm39)	Y1014H	probably damaging	Het
Macf1	A	C	4: 123,290,951 (GRCm39)	L3980R	probably damaging	Het
Magi1	A	T	6: 93,685,126 (GRCm39)	S524T	possibly damaging	Het
Nlrp4f	A	T	13: 65,342,722 (GRCm39)	Y308N	probably damaging	Het
Or1e33	A	C	11: 73,738,501 (GRCm39)	I150R	possibly damaging	Het
Or3a1c	A	T	11: 74,046,046 (GRCm39)	E22V	possibly damaging	Het
Rfx5	G	A	3: 94,866,029 (GRCm39)		probably benign	Het
Scn1b	C	T	7: 30,817,228 (GRCm39)	V165M	probably damaging	Het
Sema4c	A	C	1: 36,593,469 (GRCm39)	V41G	possibly damaging	Het
Serpini1	G	T	3: 75,523,914 (GRCm39)	G174V	probably benign	Het
Sh2b1	T	C	7: 126,070,642 (GRCm39)	E353G	probably damaging	Het
Slc7a6	G	T	8: 106,906,289 (GRCm39)	V174L	probably benign	Het
Smg1	A	T	7: 117,753,809 (GRCm39)		probably benign	Het
Spag9	A	G	11: 93,935,251 (GRCm39)	N21D	probably damaging	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Sulf1	A	G	1: 12,856,976 (GRCm39)		probably benign	Het
Swt1	A	G	1: 151,287,160 (GRCm39)	S111P	probably damaging	Het
Syne2	G	A	12: 75,955,721 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,622,030 (GRCm39)	V383A	possibly damaging	Het
Tbc1d10b	G	T	7: 126,799,033 (GRCm39)	A491E	probably damaging	Het
Tek	A	G	4: 94,686,877 (GRCm39)	T132A	probably damaging	Het
Traf3	A	G	12: 111,221,783 (GRCm39)	I290V	probably benign	Het
Traf5	A	G	1: 191,730,030 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,640,687 (GRCm39)	I13687N	probably damaging	Het
Unc5c	A	G	3: 141,494,767 (GRCm39)	D415G	probably damaging	Het
Ust	A	G	10: 8,173,825 (GRCm39)	Y227H	probably benign	Het
Vmn2r100	A	G	17: 19,752,071 (GRCm39)	N705D	probably damaging	Het
Wnk2	T	C	13: 49,214,250 (GRCm39)	E1444G	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb5	A	G	4: 44,993,750 (GRCm39)	S545P	probably benign	Het
Zfp710	A	G	7: 79,731,222 (GRCm39)	D133G	probably benign	Het
Zfp866	A	T	8: 70,218,934 (GRCm39)	C229S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACATCGGCAGTGCGTACTC -3'
(R):5'- AACCACCGTCACTGTAGTAAATGG -3'

Sequencing Primer
(F):5'- CGACAGGCTGTACGTGATG -3'
(R):5'- GTGTATATTTTCCTGGTGGCCCAC -3'

Posted On

2017-02-28