Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:Klf12'

92601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klf12

Ensembl Gene

ENSMUSG00000072294

Gene Name

Kruppel-like transcription factor 12

Synonyms

AP-2rep, 2700063E05Rik, D530033K05Rik, B130052C06Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

100108068-100522115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100260585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 48 (Y48C)

Ref Sequence

ENSEMBL: ENSMUSP00000153987 (fasta)

Gene Model

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

AlphaFold

O35738

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097079
AA Change: Y48C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: Y48C

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

probably damaging
Transcript: ENSMUST00000226774
AA Change: Y48C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228216
AA Change: Y48C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,726 (GRCm39)	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 89,971,809 (GRCm39)	M56K	possibly damaging	Het
Abca6	A	G	11: 110,075,534 (GRCm39)	L1319S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aloxe3	A	G	11: 69,020,839 (GRCm39)	N188S	probably benign	Het
Ap1s1	G	A	5: 137,070,658 (GRCm39)	R119*	probably null	Het
Apc2	T	G	10: 80,142,035 (GRCm39)	L318R	probably damaging	Het
Atg101	A	G	15: 101,184,976 (GRCm39)	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,253,317 (GRCm39)		probably benign	Het
Bpifb9b	C	A	2: 154,158,871 (GRCm39)		probably null	Het
Braf	A	T	6: 39,623,787 (GRCm39)		probably benign	Het
Cabp5	A	G	7: 13,135,189 (GRCm39)	D43G	probably damaging	Het
Cfap46	T	C	7: 139,186,523 (GRCm39)	N2462S	unknown	Het
Cit	C	T	5: 116,130,662 (GRCm39)		probably benign	Het
Cpa4	T	C	6: 30,574,415 (GRCm39)	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,517,791 (GRCm39)	I474V	probably benign	Het
Dennd1a	C	A	2: 37,734,821 (GRCm39)	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,198,289 (GRCm39)	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,813,893 (GRCm39)	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897 (GRCm39)		probably null	Het
E2f6	A	G	12: 16,875,369 (GRCm39)	D268G	probably benign	Het
Evi2b	T	A	11: 79,407,126 (GRCm39)	T150S	probably damaging	Het
F13b	A	G	1: 139,431,589 (GRCm39)	D53G	probably benign	Het
Fbxo38	G	A	18: 62,655,595 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,950,470 (GRCm38)	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Gm21759	A	G	5: 8,229,775 (GRCm39)		probably benign	Het
Gtse1	A	G	15: 85,759,283 (GRCm39)	N597S	probably benign	Het
Hcn3	G	T	3: 89,055,030 (GRCm39)	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,263,612 (GRCm39)	N107I	probably damaging	Het
Inava	C	A	1: 136,147,513 (GRCm39)	A402S	probably damaging	Het
Iqub	T	C	6: 24,446,211 (GRCm39)	K738E	probably benign	Het
Itga6	A	T	2: 71,656,000 (GRCm39)	D308V	probably benign	Het
Klhdc9	A	G	1: 171,186,384 (GRCm39)	*351Q	probably null	Het
Krt40	A	T	11: 99,433,694 (GRCm39)	N97K	probably damaging	Het
Lrit1	A	C	14: 36,782,112 (GRCm39)	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,560,910 (GRCm39)	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 131,981,881 (GRCm39)	S149P	probably benign	Het
Minar2	A	G	18: 59,195,458 (GRCm39)	M1V	probably null	Het
Mipep	A	G	14: 61,033,614 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,962,641 (GRCm39)		probably benign	Het
N4bp2	A	T	5: 65,948,267 (GRCm39)	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221 (GRCm39)	P190S	probably benign	Het
Nos1	T	A	5: 118,083,949 (GRCm39)	I1253N	probably damaging	Het
Nup210	G	T	6: 91,007,099 (GRCm39)	F572L	probably damaging	Het
Or10k2	T	C	8: 84,268,247 (GRCm39)	V158A	probably benign	Het
Or1e30	T	C	11: 73,678,103 (GRCm39)	F113S	probably damaging	Het
Or2y11	T	C	11: 49,442,964 (GRCm39)	L130P	probably damaging	Het
P4htm	T	A	9: 108,460,935 (GRCm39)	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,637,860 (GRCm39)	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,514,490 (GRCm39)	E240G	probably benign	Het
Pex5l	T	C	3: 33,069,110 (GRCm39)		probably null	Het
Plcd1	T	C	9: 118,905,246 (GRCm39)	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,349,062 (GRCm39)	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,801,526 (GRCm39)	Q386L	possibly damaging	Het
Pramel25	T	C	4: 143,520,502 (GRCm39)	F85L	probably benign	Het
Prpf40b	A	G	15: 99,207,926 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,233,187 (GRCm39)		probably null	Het
Ripor3	A	T	2: 167,839,172 (GRCm39)	S110T	probably damaging	Het
Sec24d	G	A	3: 123,087,807 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,615,131 (GRCm39)	S165G	probably benign	Het
Shank1	C	T	7: 43,991,889 (GRCm39)	A698V	unknown	Het
Shank1	T	C	7: 44,001,023 (GRCm39)	M914T	unknown	Het
Slc22a3	T	C	17: 12,677,379 (GRCm39)	Q263R	probably benign	Het
Smc1a	C	A	X: 150,819,125 (GRCm39)	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,736,873 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,331,498 (GRCm39)	T484K	probably damaging	Het
Ubr4	G	T	4: 139,168,094 (GRCm39)	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,192,806 (GRCm39)	M163I	probably benign	Het
Zfp69	T	A	4: 120,788,697 (GRCm39)	K206M	probably damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in Klf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Klf12	APN	14	100,387,193 (GRCm39)	missense	probably damaging	0.99
IGL01407:Klf12	APN	14	100,347,294 (GRCm39)	missense	possibly damaging	0.72
IGL02746:Klf12	APN	14	100,137,656 (GRCm39)	missense	probably benign	0.17
IGL02839:Klf12	APN	14	100,137,675 (GRCm39)	nonsense	probably null
R0034:Klf12	UTSW	14	100,224,865 (GRCm39)	critical splice donor site	probably null
R0034:Klf12	UTSW	14	100,224,865 (GRCm39)	critical splice donor site	probably null
R0212:Klf12	UTSW	14	100,260,298 (GRCm39)	missense	probably benign
R0577:Klf12	UTSW	14	100,260,585 (GRCm39)	missense	probably damaging	0.99
R1980:Klf12	UTSW	14	100,387,162 (GRCm39)	splice site	probably null
R2017:Klf12	UTSW	14	100,260,073 (GRCm39)	missense	possibly damaging	0.87
R2282:Klf12	UTSW	14	100,137,581 (GRCm39)	missense	probably damaging	0.96
R2317:Klf12	UTSW	14	100,179,503 (GRCm39)	missense	probably benign	0.00
R2901:Klf12	UTSW	14	100,137,582 (GRCm39)	missense	probably damaging	0.98
R4946:Klf12	UTSW	14	100,260,393 (GRCm39)	missense	possibly damaging	0.53
R5386:Klf12	UTSW	14	100,137,595 (GRCm39)	missense	probably damaging	1.00
R5802:Klf12	UTSW	14	100,260,330 (GRCm39)	missense	probably benign	0.33
R5903:Klf12	UTSW	14	100,260,124 (GRCm39)	missense	probably damaging	0.99
R6037:Klf12	UTSW	14	100,137,650 (GRCm39)	missense	probably benign	0.17
R6037:Klf12	UTSW	14	100,137,650 (GRCm39)	missense	probably benign	0.17
R6753:Klf12	UTSW	14	100,347,212 (GRCm39)	nonsense	probably null
R8801:Klf12	UTSW	14	100,260,172 (GRCm39)	missense	probably benign	0.18
R9347:Klf12	UTSW	14	100,260,144 (GRCm39)	missense	possibly damaging	0.82
R9455:Klf12	UTSW	14	100,347,226 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09