Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Klf12'

671515

Institutional Source

Beutler Lab

Gene Symbol

Klf12

Ensembl Gene

ENSMUSG00000072294

Gene Name

Kruppel-like transcription factor 12

Synonyms

AP-2rep, 2700063E05Rik, D530033K05Rik, B130052C06Rik

MMRRC Submission

068611-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100108068-100522115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100260172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 186 (I186L)

Ref Sequence

ENSEMBL: ENSMUSP00000094844 (fasta)

Gene Model

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

AlphaFold

O35738

Predicted Effect

probably benign
Transcript: ENSMUST00000097079
AA Change: I186L

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: I186L

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 benign
Transcript: ENSMUST00000226774

Predicted Effect

probably benign
Transcript: ENSMUST00000228216
AA Change: I186L

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly 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
IGL01621:Klf12	APN	14	100,260,585 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCACACAATCTAGGTTCCAGTC -3'
(R):5'- ACTGAGCCAGTGGACTTGTC -3'

Sequencing Primer
(F):5'- TCTAGGTTCCAGTCATTGAAAAAC -3'
(R):5'- GAGCCAGTGGACTTGTCAATCAAC -3'

Posted On

2021-04-30