Mutagenetix > Incidental Mutation

Incidental Mutation 'R6037:Klf12'

479276

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

043258-MU

Accession Numbers

Essential gene?

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

Stock #

R6037 (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 C at 100137650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 299 (S299G)

Ref Sequence

ENSEMBL: ENSMUSP00000153901 (fasta)

Gene Model

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

AlphaFold

O35738

Predicted Effect

probably benign
Transcript: ENSMUST00000097079
AA Change: S299G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: S299G

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

noncoding transcript
Transcript: ENSMUST00000226205

Predicted Effect

probably benign
Transcript: ENSMUST00000228216
AA Change: S299G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228612

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.4%
20x: 72.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,456,965 (GRCm39)	F249S	probably damaging	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Il23r	C	T	6: 67,455,938 (GRCm39)	V177M	probably damaging	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or14c44	C	T	7: 86,062,478 (GRCm39)	L303F	probably benign	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Wipf2	C	T	11: 98,787,005 (GRCm39)	P345S	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het
Zfp947	A	G	17: 22,366,415 (GRCm39)	Y38H	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
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
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

Predicted Primers

Posted On

2017-06-26