Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Klhl12'

326091

Institutional Source

Beutler Lab

Gene Symbol

Klhl12

Ensembl Gene

ENSMUSG00000026455

Gene Name

kelch-like 12

Synonyms

C3ip1

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134383240-134418618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 134415392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 435 (D435E)

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: D435E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: D435E

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: D435E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: D435E

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: D435E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: D435E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marchf2	C	A	17: 33,915,167 (GRCm39)	M142I	probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Mylip	T	C	13: 45,543,434 (GRCm39)	M1T	probably null	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,370,010 (GRCm39)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sdha	A	T	13: 74,475,104 (GRCm39)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	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
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
R9546:Klhl12	UTSW	1	134,413,562 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTCTGACCTGGACCTCTGG -3'
(R):5'- CACATTCACAATGGGTCTACAGTG -3'

Sequencing Primer
(F):5'- AGGTTCTGAGTTCAAATCCCAGC -3'
(R):5'- TCACAATGGGTCTACAGTGAAATAAG -3'

Posted On

2015-07-06