Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Klhl12'

539425

Institutional Source

Beutler Lab

Gene Symbol

Klhl12

Ensembl Gene

ENSMUSG00000026455

Gene Name

kelch-like 12

Synonyms

C3ip1

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134383240-134418618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134403584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 259 (H259R)

Ref Sequence

ENSEMBL: ENSMUSP00000112227 (fasta)

Gene Model

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

AlphaFold

Q8BZM0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027725
AA Change: H259R

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: H259R

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

possibly damaging
Transcript: ENSMUST00000112232
AA Change: H259R

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: H259R

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

possibly damaging
Transcript: ENSMUST00000116528
AA Change: H259R

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: H259R

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

Meta Mutation Damage Score

0.7039

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Gstm2	A	G	3: 107,892,557 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lmod2	A	T	6: 24,603,594 (GRCm39)	N190Y	probably benign	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Oscp1	A	C	4: 125,970,571 (GRCm39)	D120A	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Pp2d1	G	A	17: 53,822,487 (GRCm39)	T193M	probably damaging	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Unc50	A	T	1: 37,477,783 (GRCm39)	T222S	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	possibly damaging	Het

Other mutations in Klhl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Klhl12	APN	1	134,411,491 (GRCm39)	missense	probably benign
IGL01834:Klhl12	APN	1	134,417,158 (GRCm39)	missense	probably damaging	1.00
IGL01947:Klhl12	APN	1	134,391,689 (GRCm39)	missense	probably damaging	1.00
IGL02005:Klhl12	APN	1	134,391,652 (GRCm39)	missense	possibly damaging	0.91
IGL02550:Klhl12	APN	1	134,395,443 (GRCm39)	missense	possibly damaging	0.94
R0403:Klhl12	UTSW	1	134,413,594 (GRCm39)	missense	possibly damaging	0.82
R1508:Klhl12	UTSW	1	134,416,712 (GRCm39)	missense	possibly damaging	0.58
R1801:Klhl12	UTSW	1	134,416,808 (GRCm39)	missense	probably damaging	1.00
R4384:Klhl12	UTSW	1	134,415,392 (GRCm39)	missense	probably damaging	1.00
R4569:Klhl12	UTSW	1	134,413,507 (GRCm39)	missense	probably benign	0.23
R5302:Klhl12	UTSW	1	134,417,189 (GRCm39)	missense	possibly damaging	0.63
R5503:Klhl12	UTSW	1	134,413,653 (GRCm39)	critical splice donor site	probably null
R5877:Klhl12	UTSW	1	134,411,558 (GRCm39)	nonsense	probably null
R7126:Klhl12	UTSW	1	134,395,521 (GRCm39)	missense	probably damaging	0.97
R7688:Klhl12	UTSW	1	134,416,768 (GRCm39)	missense	probably benign	0.01
R7897:Klhl12	UTSW	1	134,386,219 (GRCm39)	missense	probably benign	0.00
R7898:Klhl12	UTSW	1	134,386,219 (GRCm39)	missense	probably benign	0.00
R7958:Klhl12	UTSW	1	134,395,455 (GRCm39)	missense	probably benign	0.02
R7989:Klhl12	UTSW	1	134,417,143 (GRCm39)	missense	probably benign
R8299:Klhl12	UTSW	1	134,416,678 (GRCm39)	missense	probably damaging	1.00
R8344:Klhl12	UTSW	1	134,413,460 (GRCm39)	missense	possibly damaging	0.95
R9546:Klhl12	UTSW	1	134,413,562 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAGAGAGATTGTGTGCC -3'
(R):5'- AGCAGGTCTAAAACAAGTCTACTG -3'

Sequencing Primer
(F):5'- TCAGCCTGCCAAGTAACTAGAGTTG -3'
(R):5'- GGTCTAAAACAAGTCTACTGTAAGC -3'

Posted On

2018-11-06