Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Klf12'

448802

Institutional Source

Beutler Lab

Gene Symbol

Klf12

Ensembl Gene

ENSMUSG00000072294

Gene Name

Kruppel-like factor 12

Synonyms

2700063E05Rik, D530033K05Rik, AP-2rep, B130052C06Rik

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99870632-100284679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100022894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000153901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]

AlphaFold

O35738

Predicted Effect

probably benign
Transcript: ENSMUST00000097079
AA Change: V133A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: V133A

Domain	Start	End	E-Value	Type
low complexity region	89	145	N/A	INTRINSIC
low complexity region	183	200	N/A	INTRINSIC
ZnF_C2H2	317	341	9.58e-3	SMART
ZnF_C2H2	347	371	8.6e-5	SMART
ZnF_C2H2	377	399	9.58e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000226774
AA Change: V133A

Predicted Effect

probably benign
Transcript: ENSMUST00000228216
AA Change: V133A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0576

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(49) : Targeted(1) Gene trapped(48)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964 (GRCm38)	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232 (GRCm38)	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676 (GRCm38)		probably null	Het
Atp2a3	T	C	11: 72,972,882 (GRCm38)	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757 (GRCm38)	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009 (GRCm38)	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244 (GRCm38)	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420 (GRCm38)	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405 (GRCm38)	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614 (GRCm38)	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925 (GRCm38)	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453 (GRCm38)	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664 (GRCm38)	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091 (GRCm38)		probably null	Het
Dnah17	C	T	11: 118,036,446 (GRCm38)	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739 (GRCm38)	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002 (GRCm38)	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714 (GRCm38)	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036 (GRCm38)	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582 (GRCm38)	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790 (GRCm38)	S56T	probably benign	Het
Gm13178	T	A	4: 144,703,636 (GRCm38)	D261V	probably damaging	Het
Gm14409	T	C	2: 177,265,256 (GRCm38)	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758 (GRCm38)	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913 (GRCm38)	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105 (GRCm38)		probably benign	Het
Gm7030	A	G	17: 36,111,287 (GRCm38)		probably benign	Het
Gpr137	C	T	19: 6,942,005 (GRCm38)	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672 (GRCm38)	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878 (GRCm38)	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056 (GRCm38)	N309K	unknown	Het
Hydin	A	T	8: 110,452,060 (GRCm38)	I1096F	possibly damaging	Het
Lats2	A	T	14: 57,694,418 (GRCm38)	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289 (GRCm38)	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681 (GRCm38)	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601 (GRCm38)	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221 (GRCm38)	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441 (GRCm38)	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876 (GRCm38)	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377 (GRCm38)	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936 (GRCm38)	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673 (GRCm38)	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433 (GRCm38)	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824 (GRCm38)	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644 (GRCm38)		probably benign	Het
Sirpb1c	T	C	3: 15,832,076 (GRCm38)	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236 (GRCm38)	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929 (GRCm38)	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748 (GRCm38)	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546 (GRCm38)	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707 (GRCm38)	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716 (GRCm38)	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339 (GRCm38)	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236 (GRCm38)		probably benign	Het
Wapl	A	G	14: 34,692,320 (GRCm38)	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691 (GRCm38)	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559 (GRCm38)	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205 (GRCm38)	P299L	probably damaging	Het

Other mutations in Klf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Klf12	APN	14	100,149,757 (GRCm38)	missense	probably damaging	0.99
IGL01407:Klf12	APN	14	100,109,858 (GRCm38)	missense	possibly damaging	0.72
IGL01621:Klf12	APN	14	100,023,149 (GRCm38)	missense	probably damaging	1.00
IGL02746:Klf12	APN	14	99,900,220 (GRCm38)	missense	probably benign	0.17
IGL02839:Klf12	APN	14	99,900,239 (GRCm38)	nonsense	probably null
R0034:Klf12	UTSW	14	99,987,429 (GRCm38)	critical splice donor site	probably null
R0034:Klf12	UTSW	14	99,987,429 (GRCm38)	critical splice donor site	probably null
R0212:Klf12	UTSW	14	100,022,862 (GRCm38)	missense	probably benign
R0577:Klf12	UTSW	14	100,023,149 (GRCm38)	missense	probably damaging	0.99
R1980:Klf12	UTSW	14	100,149,726 (GRCm38)	splice site	probably null
R2017:Klf12	UTSW	14	100,022,637 (GRCm38)	missense	possibly damaging	0.87
R2282:Klf12	UTSW	14	99,900,145 (GRCm38)	missense	probably damaging	0.96
R2317:Klf12	UTSW	14	99,942,067 (GRCm38)	missense	probably benign	0.00
R2901:Klf12	UTSW	14	99,900,146 (GRCm38)	missense	probably damaging	0.98
R4946:Klf12	UTSW	14	100,022,957 (GRCm38)	missense	possibly damaging	0.53
R5386:Klf12	UTSW	14	99,900,159 (GRCm38)	missense	probably damaging	1.00
R5903:Klf12	UTSW	14	100,022,688 (GRCm38)	missense	probably damaging	0.99
R6037:Klf12	UTSW	14	99,900,214 (GRCm38)	missense	probably benign	0.17
R6037:Klf12	UTSW	14	99,900,214 (GRCm38)	missense	probably benign	0.17
R6753:Klf12	UTSW	14	100,109,776 (GRCm38)	nonsense	probably null
R8801:Klf12	UTSW	14	100,022,736 (GRCm38)	missense	probably benign	0.18
R9347:Klf12	UTSW	14	100,022,708 (GRCm38)	missense	possibly damaging	0.82
R9455:Klf12	UTSW	14	100,109,790 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACAGCTGTGTAGACAACCG -3'
(R):5'- GGACTCACTGCCTGTAGATC -3'

Sequencing Primer
(F):5'- TGTAGACAACCGGCACTGACTG -3'
(R):5'- GCCTGTAGATCACTTTCAGACAC -3'

Posted On

2016-12-15