Mutagenetix > Incidental Mutation

Incidental Mutation 'R9546:Klhl12'

720094

Institutional Source

Beutler Lab

Gene Symbol

Klhl12

Ensembl Gene

ENSMUSG00000026455

Gene Name

kelch-like 12

Synonyms

C3ip1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134383240-134418618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134413562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 349 (L349Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027725 (fasta)

Gene Model

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

AlphaFold

Q8BZM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027725
AA Change: L349Q

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

SMART Domains

Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: L349Q

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: L349Q

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: L349Q

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: L349Q

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

SMART Domains

Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: L349Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,135,042 (GRCm39)	Q248*	probably null	Het
Adgrf4	A	T	17: 42,978,283 (GRCm39)	C353*	probably null	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Ccdc122	T	A	14: 77,306,313 (GRCm39)	V28E	probably damaging	Het
Cd5l	T	C	3: 87,268,201 (GRCm39)	V16A	probably benign	Het
Cdk11b	T	C	4: 155,733,589 (GRCm39)	S682P	unknown	Het
Chd8	T	C	14: 52,453,408 (GRCm39)	I1218V	probably damaging	Het
Clec1b	A	C	6: 129,382,167 (GRCm39)	I215L	probably benign	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn2	T	C	11: 61,437,407 (GRCm39)	E55G	probably damaging	Het
Ern1	A	G	11: 106,300,853 (GRCm39)	S514P	probably benign	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Gli3	T	A	13: 15,788,443 (GRCm39)	D149E	probably benign	Het
Gm12258	A	G	11: 58,749,922 (GRCm39)	K366E	unknown	Het
Gm9195	G	T	14: 72,718,347 (GRCm39)	H110N	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hexb	T	C	13: 97,322,176 (GRCm39)	D203G	probably damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Iglon5	A	T	7: 43,123,891 (GRCm39)	M336K	probably benign	Het
Iyd	A	T	10: 3,501,884 (GRCm39)	I177F	possibly damaging	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Lrp2	A	G	2: 69,287,165 (GRCm39)		probably null	Het
Mrm2	T	A	5: 140,314,334 (GRCm39)	H167L	probably damaging	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtcl3	C	A	10: 29,022,805 (GRCm39)	R51S	probably damaging	Het
Nags	A	T	11: 102,039,081 (GRCm39)	T471S	probably damaging	Het
Nod2	A	T	8: 89,379,621 (GRCm39)	R41W	probably benign	Het
Notch1	T	A	2: 26,371,127 (GRCm39)	N320Y	probably damaging	Het
Nr2c1	A	G	10: 94,026,528 (GRCm39)	K468E	possibly damaging	Het
Nsf	G	A	11: 103,801,275 (GRCm39)	Q247*	probably null	Het
Obsl1	T	C	1: 75,482,030 (GRCm39)	H280R	probably damaging	Het
Or4p20	T	C	2: 88,254,049 (GRCm39)	M107V	probably benign	Het
Pcdha3	C	T	18: 37,079,389 (GRCm39)	R44C	probably damaging	Het
Pcsk4	A	G	10: 80,157,741 (GRCm39)	S623P	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Plk2	T	A	13: 110,535,301 (GRCm39)	I445K	possibly damaging	Het
Pramel51	C	A	12: 88,148,651 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Prl3d1	A	T	13: 27,278,982 (GRCm39)	Y59F	probably benign	Het
Ptprj	C	T	2: 90,274,805 (GRCm39)	V1186I	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,994,215 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,602,101 (GRCm39)		probably null	Het
Scn7a	A	T	2: 66,582,603 (GRCm39)	I98N	possibly damaging	Het
Spi1	T	A	2: 90,943,617 (GRCm39)	S54T	probably benign	Het
Ssna1	C	T	2: 25,162,316 (GRCm39)	V16I	probably benign	Het
Sult3a2	G	A	10: 33,655,670 (GRCm39)	P103L	possibly damaging	Het
Syne1	C	T	10: 5,193,123 (GRCm39)	G3975D	probably damaging	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Vmn2r24	A	C	6: 123,764,266 (GRCm39)	E381A	probably damaging	Het
Vmn2r95	G	A	17: 18,661,721 (GRCm39)	G489D	probably benign	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Xpnpep1	A	T	19: 52,990,959 (GRCm39)	L422Q	probably damaging	Het
Zfand3	T	A	17: 30,372,302 (GRCm39)	H107Q	probably benign	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
R6918:Klhl12	UTSW	1	134,403,584 (GRCm39)	missense	possibly damaging	0.46
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

Predicted Primers

PCR Primer
(F):5'- AGGCATTCACCATCTAGCCC -3'
(R):5'- CAAGAATGAGCCTTTGAAATGAGAC -3'

Sequencing Primer
(F):5'- TCTAGCCCCTCAGGATGAAC -3'
(R):5'- GTTATCAAACCTACCTCCC -3'

Posted On

2022-07-18