Mutagenetix > Incidental Mutation

Incidental Mutation 'R5877:Klhl12'

455569

Institutional Source

Beutler Lab

Gene Symbol

Klhl12

Ensembl Gene

ENSMUSG00000026455

Gene Name

kelch-like 12

Synonyms

C3ip1

MMRRC Submission

044083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134383240-134418618 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 134411558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 302 (Y302*)

Ref Sequence

ENSEMBL: ENSMUSP00000112227 (fasta)

Gene Model

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

AlphaFold

Q8BZM0

Predicted Effect

probably null
Transcript: ENSMUST00000027725
AA Change: Y302*

SMART Domains

Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: Y302*

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 null
Transcript: ENSMUST00000112232
AA Change: Y302*

SMART Domains

Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: Y302*

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 null
Transcript: ENSMUST00000116528
AA Change: Y302*

SMART Domains

Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: Y302*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

97% (68/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,822 (GRCm39)	H213L	probably damaging	Het
Alk	A	G	17: 72,274,521 (GRCm39)	W597R	probably damaging	Het
Ark2n	G	T	18: 77,730,902 (GRCm39)		probably null	Het
Ash1l	G	A	3: 88,888,891 (GRCm39)	V257I	probably benign	Het
Atp9b	C	T	18: 80,796,004 (GRCm39)	V957I	probably benign	Het
Birc2	A	C	9: 7,849,347 (GRCm39)	C576G	probably damaging	Het
Brca2	T	C	5: 150,466,686 (GRCm39)	M2150T	possibly damaging	Het
C3ar1	T	G	6: 122,827,581 (GRCm39)	D212A	probably benign	Het
Cacna1s	T	C	1: 136,028,405 (GRCm39)	F914S	probably damaging	Het
Camk1d	T	C	2: 5,570,476 (GRCm39)	I62V	probably benign	Het
Caskin1	T	C	17: 24,724,239 (GRCm39)	M1009T	possibly damaging	Het
Casp2	A	G	6: 42,253,571 (GRCm39)		probably benign	Het
Cd2bp2	T	A	7: 126,793,971 (GRCm39)	Y106F	probably damaging	Het
Celsr3	G	A	9: 108,722,926 (GRCm39)	C2763Y	probably damaging	Het
Cyp2g1	T	G	7: 26,516,065 (GRCm39)	L310V	possibly damaging	Het
Dusp22	G	A	13: 30,891,944 (GRCm39)	V99M	probably damaging	Het
Elp1	A	T	4: 56,787,807 (GRCm39)	W375R	probably damaging	Het
Fam131b	G	A	6: 42,297,913 (GRCm39)	S92L	probably benign	Het
Fbxw10	A	T	11: 62,748,542 (GRCm39)	N390Y	probably damaging	Het
Flg2	A	T	3: 93,110,756 (GRCm39)	H928L	unknown	Het
Gapdhs	T	C	7: 30,431,772 (GRCm39)	T280A	probably damaging	Het
Hdac11	A	G	6: 91,134,524 (GRCm39)	K50E	probably damaging	Het
Hif3a	G	T	7: 16,785,071 (GRCm39)	A181E	probably damaging	Het
Itgb8	A	G	12: 119,166,271 (GRCm39)	S87P	probably benign	Het
Lhx1	C	A	11: 84,413,065 (GRCm39)	D30Y	probably damaging	Het
Mrpl40	A	G	16: 18,691,135 (GRCm39)	Y148H	probably damaging	Het
Myh13	A	T	11: 67,244,484 (GRCm39)	H1007L	possibly damaging	Het
Nhlrc2	T	C	19: 56,559,016 (GRCm39)	I167T	probably damaging	Het
Nxpe3	A	T	16: 55,686,564 (GRCm39)	I148K	probably damaging	Het
Odf2l	A	G	3: 144,834,771 (GRCm39)		probably null	Het
Otud7b	C	T	3: 96,059,277 (GRCm39)	R347*	probably null	Het
P3h4	G	T	11: 100,304,843 (GRCm39)	H181Q	probably benign	Het
P4htm	T	A	9: 108,460,932 (GRCm39)	Y180F	possibly damaging	Het
Pcna-ps2	A	G	19: 9,261,463 (GRCm39)	I241V	probably benign	Het
Pcnx2	T	C	8: 126,480,467 (GRCm39)	S1947G	probably damaging	Het
Piezo2	T	C	18: 63,247,005 (GRCm39)	I336V	probably benign	Het
Plcd1	T	C	9: 118,905,240 (GRCm39)	D157G	probably damaging	Het
Plekhm2	A	C	4: 141,367,004 (GRCm39)	I212S	probably damaging	Het
Pmvk	G	T	3: 89,371,676 (GRCm39)	C57F	probably benign	Het
Pole	T	C	5: 110,480,329 (GRCm39)	S91P	probably benign	Het
Ppargc1b	C	G	18: 61,442,164 (GRCm39)	D591H	probably damaging	Het
Ppp4r3b	A	T	11: 29,159,356 (GRCm39)	D570V	probably damaging	Het
Pxdn	T	A	12: 30,053,045 (GRCm39)	I1074N	probably damaging	Het
Ralgapa2	A	T	2: 146,230,489 (GRCm39)	D1025E	probably damaging	Het
Ralgps1	A	G	2: 33,133,640 (GRCm39)		probably benign	Het
Rasal1	C	T	5: 120,817,135 (GRCm39)		probably benign	Het
Rps2	A	T	17: 24,939,890 (GRCm39)		probably benign	Het
Scn7a	G	C	2: 66,530,217 (GRCm39)	Y709*	probably null	Het
Skint1	T	A	4: 111,878,720 (GRCm39)	C217*	probably null	Het
Slc50a1	T	C	3: 89,176,460 (GRCm39)	Y82C	probably damaging	Het
Slc9a4	T	C	1: 40,651,423 (GRCm39)	V567A	probably benign	Het
Snx27	A	T	3: 94,410,270 (GRCm39)	W469R	probably damaging	Het
Sos2	A	G	12: 69,643,569 (GRCm39)	L937P	probably damaging	Het
Ssh1	T	C	5: 114,081,181 (GRCm39)	T728A	probably benign	Het
Tnfrsf8	G	A	4: 145,019,257 (GRCm39)	R193C	probably benign	Het
Tut4	T	C	4: 108,370,120 (GRCm39)	V673A	probably damaging	Het
Usp33	T	A	3: 152,085,113 (GRCm39)	M583K	possibly damaging	Het
Usp33	G	A	3: 152,085,233 (GRCm39)	C623Y	probably damaging	Het
Wdfy3	T	C	5: 102,017,855 (GRCm39)	I2562V	probably damaging	Het
Wnk2	T	C	13: 49,220,782 (GRCm39)	D1175G	probably damaging	Het
Zfp341	G	A	2: 154,474,209 (GRCm39)	E338K	probably damaging	Het
Zfp398	A	G	6: 47,817,638 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,732,562 (GRCm39)	K661N	probably null	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
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'- ACTGAGGTCCTTGATCCAGTACC -3'
(R):5'- TGGAAGGGACATGCATTCTGC -3'

Sequencing Primer
(F):5'- GAGGTCCTTGATCCAGTACCTATTG -3'
(R):5'- GGACATGCATTCTGCTACAGC -3'

Posted On

2017-02-10