Mutagenetix > Incidental Mutation

Incidental Mutation 'R2199:Klhl31'

238564

Institutional Source

Beutler Lab

Gene Symbol

Klhl31

Ensembl Gene

ENSMUSG00000044938

Gene Name

kelch-like 31

Synonyms

9830147P19Rik, Kbtbd1, D930047P17Rik

MMRRC Submission

040201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2199 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77544014-77567407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77557383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

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: L33P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: L33P

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,598 (GRCm39)	I119V	probably benign	Het
Arfgap2	T	A	2: 91,096,037 (GRCm39)		probably null	Het
Ccm2	T	C	11: 6,540,790 (GRCm39)	V216A	probably damaging	Het
Ctdspl2	T	C	2: 121,817,510 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,283,527 (GRCm39)	T2769A	probably benign	Het
Dnah3	C	T	7: 119,550,792 (GRCm39)	V3165M	possibly damaging	Het
Dnajc1	A	C	2: 18,313,710 (GRCm39)	F137C	probably damaging	Het
Gli2	A	T	1: 118,765,378 (GRCm39)	D924E	possibly damaging	Het
Gnrhr	T	C	5: 86,345,677 (GRCm39)	N3S	probably benign	Het
Grhl1	G	T	12: 24,662,169 (GRCm39)	R536L	probably damaging	Het
Hormad1	T	C	3: 95,475,033 (GRCm39)		probably null	Het
Il20	T	A	1: 130,838,476 (GRCm39)	I74L	probably benign	Het
Ints11	A	G	4: 155,959,738 (GRCm39)	K115R	probably benign	Het
Irx4	A	T	13: 73,413,720 (GRCm39)	E63D	probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kctd8	C	A	5: 69,498,588 (GRCm39)	M19I	probably benign	Het
Lrp1	A	T	10: 127,382,709 (GRCm39)	C3691S	probably damaging	Het
Lrrc39	A	G	3: 116,364,610 (GRCm39)	D167G	probably damaging	Het
Lrrd1	A	T	5: 3,916,478 (GRCm39)	I832L	possibly damaging	Het
Lrriq1	A	G	10: 102,904,774 (GRCm39)	V1620A	probably damaging	Het
Ltbr	T	C	6: 125,289,024 (GRCm39)	K213E	probably benign	Het
Megf8	T	A	7: 25,039,039 (GRCm39)	D883E	possibly damaging	Het
Nherf2	T	C	17: 24,859,570 (GRCm39)	E174G	probably null	Het
Nmt1	T	A	11: 102,954,682 (GRCm39)	S405T	probably damaging	Het
Nsd3	G	T	8: 26,156,073 (GRCm39)	V547F	probably damaging	Het
Or4c110	A	G	2: 88,831,894 (GRCm39)	V246A	probably damaging	Het
Or7g16	C	A	9: 18,727,219 (GRCm39)	V124F	probably damaging	Het
Otud7a	A	G	7: 63,407,404 (GRCm39)	K569R	possibly damaging	Het
Otud7b	A	G	3: 96,063,089 (GRCm39)	Y776C	probably damaging	Het
Pcdh15	T	C	10: 74,006,341 (GRCm39)	I73T	probably damaging	Het
Rnf213	A	T	11: 119,350,835 (GRCm39)	H3890L	probably benign	Het
Sall3	T	C	18: 81,015,085 (GRCm39)	T948A	probably benign	Het
Slc44a3	T	C	3: 121,307,393 (GRCm39)	I198V	probably benign	Het
Smg7	C	A	1: 152,730,079 (GRCm39)	D405Y	probably damaging	Het
Synpo2l	A	G	14: 20,711,987 (GRCm39)	L211S	probably benign	Het
Thsd7b	A	G	1: 130,145,895 (GRCm39)	Y1601C	probably benign	Het
Traf4	T	C	11: 78,050,806 (GRCm39)	Y450C	probably damaging	Het
Trpv1	A	G	11: 73,131,077 (GRCm39)	K239E	probably damaging	Het
Ttn	C	T	2: 76,585,150 (GRCm39)	G20302S	probably damaging	Het
Ube2o	A	G	11: 116,435,571 (GRCm39)	S406P	probably benign	Het
Xrn2	C	T	2: 146,866,670 (GRCm39)	A80V	probably damaging	Het
Zfp616	C	T	11: 73,975,456 (GRCm39)	T575I	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ACGTCACTGAGATGTGCGTC -3'
(R):5'- CACTGACTTATGGACATCAAAGG -3'

Sequencing Primer
(F):5'- GCGTCTAGCTCACTATCTTTAAACG -3'
(R):5'- CATCAAAGGACTTGGTTTTGGTACC -3'

Posted On

2014-10-02