Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Klhl31'

667889

Institutional Source

Beutler Lab

Gene Symbol

Klhl31

Ensembl Gene

ENSMUSG00000044938

Gene Name

kelch-like 31

Synonyms

9830147P19Rik, Kbtbd1, D930047P17Rik

MMRRC Submission

068600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77544014-77567407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77557445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 54 (S54P)

Ref Sequence

ENSEMBL: ENSMUSP00000059643 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057781
AA Change: S54P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: S54P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	T	G	12: 71,001,430 (GRCm39)		probably null	Het
Amz1	A	G	5: 140,733,921 (GRCm39)	N166D	probably benign	Het
Armh4	T	A	14: 50,011,497 (GRCm39)	N70I	probably damaging	Het
Asah2	A	G	19: 32,035,280 (GRCm39)	F15S	possibly damaging	Het
Axin2	A	G	11: 108,814,657 (GRCm39)	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,002,881 (GRCm39)	L326P	probably damaging	Het
Ccdc169	T	C	3: 55,058,245 (GRCm39)		probably null	Het
Cct8	A	T	16: 87,285,756 (GRCm39)	V234D	probably damaging	Het
Cdh19	T	C	1: 110,817,844 (GRCm39)	R633G	probably benign	Het
Clca3a1	A	T	3: 144,714,939 (GRCm39)		probably benign	Het
Crat	G	A	2: 30,297,075 (GRCm39)	P293S	probably benign	Het
Crybg3	G	A	16: 59,375,696 (GRCm39)	R139C	probably benign	Het
Ctbs	A	G	3: 146,165,588 (GRCm39)	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 114,967,262 (GRCm39)	H438R	probably damaging	Het
Dglucy	C	A	12: 100,837,706 (GRCm39)	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142 (GRCm39)	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,095,860 (GRCm39)	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,155,749 (GRCm39)	E341G	probably benign	Het
Gk2	T	A	5: 97,604,110 (GRCm39)	M243L	probably benign	Het
Grhl3	T	A	4: 135,300,724 (GRCm39)	E4D	probably benign	Het
Hsd17b13	T	C	5: 104,125,009 (GRCm39)	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,428,148 (GRCm39)	Q9*	probably null	Het
Izumo1	G	A	7: 45,276,496 (GRCm39)	S353N	probably benign	Het
Lonp2	T	C	8: 87,363,198 (GRCm39)	M272T	probably benign	Het
Ltbp1	T	A	17: 75,603,250 (GRCm39)	C682*	probably null	Het
Magi2	A	G	5: 20,400,123 (GRCm39)	K52E	probably benign	Het
Nab2	C	T	10: 127,502,417 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,390,356 (GRCm39)	V435D	probably damaging	Het
Nid2	A	G	14: 19,802,340 (GRCm39)	D87G	probably benign	Het
Or10a3	A	G	7: 108,480,453 (GRCm39)	M120T	probably benign	Het
Or9a7	T	C	6: 40,521,485 (GRCm39)	M143V	probably benign	Het
Pamr1	T	C	2: 102,380,538 (GRCm39)	M1T	probably null	Het
Pard3b	T	C	1: 62,198,637 (GRCm39)	C242R	probably benign	Het
Pcif1	T	A	2: 164,727,346 (GRCm39)	V106E	probably benign	Het
Pitx2	T	A	3: 129,012,223 (GRCm39)	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,166,919 (GRCm39)	Y877*	probably null	Het
Prkch	A	G	12: 73,749,312 (GRCm39)	N354S	probably benign	Het
Psen2	T	A	1: 180,073,201 (GRCm39)	D40V	probably benign	Het
Rfx7	T	A	9: 72,524,021 (GRCm39)	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,683,855 (GRCm39)	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,196,711 (GRCm39)	D263G	probably benign	Het
Tox	T	C	4: 6,823,047 (GRCm39)	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722 (GRCm39)	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,963,100 (GRCm39)	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,241 (GRCm39)	V660M	probably damaging	Het
Yju2b	C	T	8: 84,988,423 (GRCm39)	R68H	probably damaging	Het
Zfp592	A	T	7: 80,674,353 (GRCm39)	H439L	probably benign	Het
Zfp775	A	T	6: 48,597,113 (GRCm39)	H329L	probably damaging	Het
Zswim5	T	C	4: 116,816,004 (GRCm39)	L364P	probably damaging	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
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
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'- ACAGCGCTGTGGCTAACATG -3'
(R):5'- GTAAGCATACGCGATCACTGTG -3'

Sequencing Primer
(F):5'- TGGCTAACATGGCACCCAAAAAG -3'
(R):5'- GGCGATATCATTGAGGTCTACCC -3'

Posted On

2021-03-08