Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Klhl12'

203105

Institutional Source

Beutler Lab

Gene Symbol

Klhl12

Ensembl Gene

ENSMUSG00000026455

Gene Name

kelch-like 12

Synonyms

C3ip1

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134455531-134491018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134489070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 510 (R510L)

Ref Sequence

ENSEMBL: ENSMUSP00000112227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027725] [ENSMUST00000112232] [ENSMUST00000116528]

AlphaFold

Q8BZM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027725
AA Change: R510L

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

SMART Domains

Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: R510L

Domain	Start	End	E-Value	Type
BTB	33	130	1.9e-30	SMART
BACK	135	237	5.39e-34	SMART
Kelch	282	329	1.9e-9	SMART
Kelch	330	379	3.18e-11	SMART
Kelch	380	426	1.85e-12	SMART
Kelch	427	473	3.11e-14	SMART
Kelch	474	520	1.74e-17	SMART
Kelch	521	567	4.71e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112232
AA Change: R483L

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

SMART Domains

Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: R483L

Domain	Start	End	E-Value	Type
BTB	33	130	1.9e-30	SMART
BACK	135	237	5.39e-34	SMART
Kelch	282	329	1.9e-9	SMART
Kelch	330	379	3.18e-11	SMART
Kelch	380	426	1.85e-12	SMART
Kelch	427	493	3.39e-6	SMART
Kelch	494	540	4.71e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116528
AA Change: R510L

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

SMART Domains

Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: R510L

Domain	Start	End	E-Value	Type
BTB	33	130	1.9e-30	SMART
BACK	135	237	5.39e-34	SMART
Kelch	282	329	1.9e-9	SMART
Kelch	330	379	3.18e-11	SMART
Kelch	380	426	1.85e-12	SMART
Kelch	427	473	3.11e-14	SMART
Kelch	474	520	1.74e-17	SMART
Kelch	521	567	4.71e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141458

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,396 (GRCm38)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,338,887 (GRCm38)	M1307V	probably benign	Het
Adam34l	A	T	8: 43,625,917 (GRCm38)	C423*	probably null	Het
Adamts9	A	G	6: 92,863,376 (GRCm38)	V1142A	probably benign	Het
Ano10	T	C	9: 122,253,030 (GRCm38)	N525S	probably damaging	Het
Bpifa2	T	C	2: 154,011,504 (GRCm38)		probably null	Het
C7	C	T	15: 5,012,021 (GRCm38)	V468I	possibly damaging	Het
Carf	A	T	1: 60,141,505 (GRCm38)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,546,895 (GRCm38)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,294,190 (GRCm38)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,834,626 (GRCm38)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,960,997 (GRCm38)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,313,790 (GRCm38)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 134,270,212 (GRCm38)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,683,972 (GRCm38)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,955,297 (GRCm38)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,680,804 (GRCm38)	D304G	probably damaging	Het
Epg5	T	C	18: 77,983,490 (GRCm38)	V1232A	possibly damaging	Het
Ezr	T	C	17: 6,742,372 (GRCm38)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,815,846 (GRCm38)	S1164P	probably damaging	Het
Gmip	T	C	8: 69,814,477 (GRCm38)	V341A	probably benign	Het
Gnb3	A	C	6: 124,835,636 (GRCm38)	F286V	probably benign	Het
Gpatch2	T	A	1: 187,225,831 (GRCm38)	S128T	probably benign	Het
Gpr87	T	C	3: 59,179,392 (GRCm38)	R231G	possibly damaging	Het
Hip1r	G	A	5: 123,998,808 (GRCm38)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,803,034 (GRCm38)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,698,875 (GRCm38)	D275V	probably damaging	Het
Il4	G	T	11: 53,618,538 (GRCm38)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,648,393 (GRCm38)	Y749C	probably damaging	Het
Klb	A	G	5: 65,349,235 (GRCm38)	K275R	probably null	Het
Lrrc8b	A	G	5: 105,480,823 (GRCm38)	Y345C	probably damaging	Het
Med15	T	C	16: 17,680,735 (GRCm38)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,390 (GRCm38)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,214,191 (GRCm38)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,771,499 (GRCm38)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,283,582 (GRCm38)	D305V	probably damaging	Het
Obscn	A	C	11: 58,998,321 (GRCm38)	S7542A	unknown	Het
Or4a27	T	A	2: 88,729,264 (GRCm38)	I112F	probably damaging	Het
Pak4	G	A	7: 28,565,190 (GRCm38)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,427,847 (GRCm38)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,345,605 (GRCm38)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,654 (GRCm38)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,293,243 (GRCm38)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,963,904 (GRCm38)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,416,904 (GRCm38)	C263R	probably damaging	Het
Psma2	A	T	13: 14,623,605 (GRCm38)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,242,800 (GRCm38)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,404,477 (GRCm38)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,694,209 (GRCm38)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,914,872 (GRCm38)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,595,281 (GRCm38)	S655G	probably benign	Het
Samd4b	A	T	7: 28,407,331 (GRCm38)		probably null	Het
Sema4a	C	T	3: 88,436,749 (GRCm38)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351 (GRCm38)	D378G	probably benign	Het
Sh3gl3	C	T	7: 82,284,119 (GRCm38)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,521,652 (GRCm38)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,146,953 (GRCm38)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,936,607 (GRCm38)	H681N	probably benign	Het
Sugp2	T	C	8: 70,236,710 (GRCm38)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,317,214 (GRCm38)		probably null	Het
Syna	A	G	5: 134,560,089 (GRCm38)	V2A	probably benign	Het
Tcp1	T	A	17: 12,922,202 (GRCm38)	Y299*	probably null	Het
Tenm3	C	A	8: 48,276,256 (GRCm38)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,250,788 (GRCm38)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,491,613 (GRCm38)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,452,563 (GRCm38)		probably null	Het
Uchl4	T	A	9: 64,235,475 (GRCm38)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,428,478 (GRCm38)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 53,010,133 (GRCm38)	L228P	probably damaging	Het
Xrcc4	T	G	13: 89,992,579 (GRCm38)	E170D	probably damaging	Het
Zfp945	T	C	17: 22,851,762 (GRCm38)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,146,462 (GRCm38)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,220,205 (GRCm38)	G433R	probably damaging	Het

Other mutations in Klhl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Klhl12	APN	1	134,483,753 (GRCm38)	missense	probably benign
IGL01834:Klhl12	APN	1	134,489,420 (GRCm38)	missense	probably damaging	1.00
IGL01947:Klhl12	APN	1	134,463,951 (GRCm38)	missense	probably damaging	1.00
IGL02005:Klhl12	APN	1	134,463,914 (GRCm38)	missense	possibly damaging	0.91
IGL02550:Klhl12	APN	1	134,467,705 (GRCm38)	missense	possibly damaging	0.94
R0403:Klhl12	UTSW	1	134,485,856 (GRCm38)	missense	possibly damaging	0.82
R1508:Klhl12	UTSW	1	134,488,974 (GRCm38)	missense	possibly damaging	0.58
R4384:Klhl12	UTSW	1	134,487,654 (GRCm38)	missense	probably damaging	1.00
R4569:Klhl12	UTSW	1	134,485,769 (GRCm38)	missense	probably benign	0.23
R5302:Klhl12	UTSW	1	134,489,451 (GRCm38)	missense	possibly damaging	0.63
R5503:Klhl12	UTSW	1	134,485,915 (GRCm38)	critical splice donor site	probably null
R5877:Klhl12	UTSW	1	134,483,820 (GRCm38)	nonsense	probably null
R6918:Klhl12	UTSW	1	134,475,846 (GRCm38)	missense	possibly damaging	0.46
R7126:Klhl12	UTSW	1	134,467,783 (GRCm38)	missense	probably damaging	0.97
R7688:Klhl12	UTSW	1	134,489,030 (GRCm38)	missense	probably benign	0.01
R7897:Klhl12	UTSW	1	134,458,481 (GRCm38)	missense	probably benign	0.00
R7898:Klhl12	UTSW	1	134,458,481 (GRCm38)	missense	probably benign	0.00
R7958:Klhl12	UTSW	1	134,467,717 (GRCm38)	missense	probably benign	0.02
R7989:Klhl12	UTSW	1	134,489,405 (GRCm38)	missense	probably benign
R8299:Klhl12	UTSW	1	134,488,940 (GRCm38)	missense	probably damaging	1.00
R8344:Klhl12	UTSW	1	134,485,722 (GRCm38)	missense	possibly damaging	0.95
R9546:Klhl12	UTSW	1	134,485,824 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATTCATGTGCTGATGCTC -3'
(R):5'- AGGTCTCCATCACTTTACATACAAG -3'

Sequencing Primer
(F):5'- GATGCTCTCTTTTCCCCAGGTG -3'
(R):5'- TGTCTACAAGGGCCCACTC -3'

Posted On

2014-06-23