Mutagenetix > Incidental Mutation

Incidental Mutation 'R2280:Zfp12'

243036

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

040279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143220918-143234589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143231248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 525 (Y525C)

Ref Sequence

ENSEMBL: ENSMUSP00000076693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032591] [ENSMUST00000075916] [ENSMUST00000077485] [ENSMUST00000161448]

AlphaFold

Q7TSI0

Predicted Effect

probably benign
Transcript: ENSMUST00000032591
AA Change: Y557C

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: Y557C

Domain	Start	End	E-Value	Type
KRAB	8	68	1.98e-36	SMART
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	263	285	4.47e-3	SMART
ZnF_C2H2	291	313	2.43e-4	SMART
ZnF_C2H2	319	341	2.61e-4	SMART
ZnF_C2H2	347	369	1.04e-3	SMART
ZnF_C2H2	375	397	6.08e-5	SMART
ZnF_C2H2	403	425	2.99e-4	SMART
ZnF_C2H2	431	453	9.08e-4	SMART
ZnF_C2H2	459	481	2.57e-3	SMART
ZnF_C2H2	487	509	6.32e-3	SMART
ZnF_C2H2	515	537	5.21e-4	SMART
ZnF_C2H2	543	565	9.44e-2	SMART
ZnF_C2H2	571	593	1.72e-4	SMART
ZnF_C2H2	599	621	2.86e-1	SMART
ZnF_C2H2	627	649	3.63e-3	SMART
ZnF_C2H2	655	677	4.54e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075916

SMART Domains

Protein: ENSMUSP00000137971
Gene: ENSMUSG00000029587

Domain	Start	End	E-Value	Type
KRAB	8	67	6.65e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000077485
AA Change: Y525C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: Y525C

Domain	Start	End	E-Value	Type
KRAB	8	68	8.91e-21	SMART
low complexity region	156	167	N/A	INTRINSIC
Pfam:zf-C2H2_6	183	200	8.8e-1	PFAM
ZnF_C2H2	231	253	4.47e-3	SMART
ZnF_C2H2	259	281	2.43e-4	SMART
ZnF_C2H2	287	309	2.61e-4	SMART
ZnF_C2H2	315	337	1.04e-3	SMART
ZnF_C2H2	343	365	6.08e-5	SMART
ZnF_C2H2	371	393	2.99e-4	SMART
ZnF_C2H2	399	421	9.08e-4	SMART
ZnF_C2H2	427	449	2.57e-3	SMART
ZnF_C2H2	455	477	6.32e-3	SMART
ZnF_C2H2	483	505	5.21e-4	SMART
ZnF_C2H2	511	533	9.44e-2	SMART
ZnF_C2H2	539	561	1.72e-4	SMART
ZnF_C2H2	567	589	2.86e-1	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	4.54e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160195

Predicted Effect

probably benign
Transcript: ENSMUST00000161448

SMART Domains

Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197349

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,654,955 (GRCm39)	N2698S	probably damaging	Het
Ankrd37	T	C	8: 46,452,413 (GRCm39)	T19A	probably benign	Het
Anks1b	A	C	10: 90,802,164 (GRCm39)	K353N	probably damaging	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3b1	A	G	13: 94,664,724 (GRCm39)	M888V	unknown	Het
Apoh	T	A	11: 108,300,006 (GRCm39)	Y218*	probably null	Het
Arhgef19	G	A	4: 140,973,827 (GRCm39)	G105S	probably benign	Het
Brd7	A	G	8: 89,069,385 (GRCm39)	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,327,002 (GRCm39)	Q1089L	possibly damaging	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cep170	A	T	1: 176,602,071 (GRCm39)	V345E	probably benign	Het
Chaf1b	T	G	16: 93,688,459 (GRCm39)	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,492,913 (GRCm39)	P1153S	probably benign	Het
Clvs2	A	T	10: 33,404,496 (GRCm39)	I240N	probably damaging	Het
Cox8c	A	T	12: 102,865,713 (GRCm39)	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Cyp46a1	T	C	12: 108,321,730 (GRCm39)	S319P	probably damaging	Het
Dcdc5	G	A	2: 106,202,867 (GRCm39)		noncoding transcript	Het
Ddx4	T	C	13: 112,757,190 (GRCm39)	I377V	probably benign	Het
Dis3l	T	A	9: 64,225,076 (GRCm39)	N407I	possibly damaging	Het
Dysf	A	C	6: 84,041,476 (GRCm39)	T161P	probably damaging	Het
Ecsit	C	T	9: 21,987,836 (GRCm39)	V68I	possibly damaging	Het
Ei24	A	G	9: 36,693,635 (GRCm39)		probably null	Het
Fbxl19	A	T	7: 127,347,540 (GRCm39)	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,965,926 (GRCm39)	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Frem2	A	G	3: 53,479,844 (GRCm39)	C1950R	probably damaging	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Gbx2	A	T	1: 89,858,359 (GRCm39)	V40D	probably damaging	Het
Gcc2	C	A	10: 58,105,502 (GRCm39)	T210K	probably benign	Het
Gcn1	T	A	5: 115,750,789 (GRCm39)	M1991K	probably damaging	Het
Gpr18	T	A	14: 122,150,017 (GRCm39)	T3S	probably benign	Het
Herc2	A	C	7: 55,787,019 (GRCm39)	K1621N	possibly damaging	Het
Hspg2	A	G	4: 137,249,354 (GRCm39)	E1300G	probably damaging	Het
Krtap19-5	C	T	16: 88,693,231 (GRCm39)	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076 (GRCm38)	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,327,266 (GRCm39)	I118T	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,573 (GRCm39)		noncoding transcript	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Npy1r	C	T	8: 67,156,711 (GRCm39)	L44F	possibly damaging	Het
Or10aa1	C	A	1: 173,870,087 (GRCm39)	S190R	probably benign	Het
Pcx	C	A	19: 4,654,571 (GRCm39)	R328S	probably damaging	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Pum1	A	T	4: 130,493,322 (GRCm39)	I696F	probably damaging	Het
Pxdn	T	C	12: 30,034,905 (GRCm39)	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rsph4a	A	T	10: 33,787,595 (GRCm39)	I584L	probably benign	Het
Scamp5	A	G	9: 57,352,722 (GRCm39)	V149A	probably benign	Het
Sike1	A	G	3: 102,904,694 (GRCm39)	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,330,474 (GRCm39)	L77P	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Taar7f	G	A	10: 23,925,417 (GRCm39)	A4T	probably benign	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,593,016 (GRCm39)	R94C	probably damaging	Het
Utp20	A	T	10: 88,661,365 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,321,814 (GRCm39)	Q935L	probably damaging	Het

Other mutations in Zfp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Zfp12	APN	5	143,230,551 (GRCm39)	missense	probably damaging	1.00
IGL02870:Zfp12	APN	5	143,231,086 (GRCm39)	missense	probably damaging	0.99
IGL02975:Zfp12	APN	5	143,229,814 (GRCm39)	unclassified	probably benign
R0362:Zfp12	UTSW	5	143,230,978 (GRCm39)	missense	probably damaging	0.97
R0723:Zfp12	UTSW	5	143,230,638 (GRCm39)	missense	probably damaging	1.00
R1104:Zfp12	UTSW	5	143,231,500 (GRCm39)	missense	probably damaging	1.00
R1403:Zfp12	UTSW	5	143,230,535 (GRCm39)	nonsense	probably null
R1403:Zfp12	UTSW	5	143,230,535 (GRCm39)	nonsense	probably null
R1774:Zfp12	UTSW	5	143,230,984 (GRCm39)	missense	probably damaging	1.00
R1895:Zfp12	UTSW	5	143,231,133 (GRCm39)	missense	probably damaging	1.00
R1946:Zfp12	UTSW	5	143,231,133 (GRCm39)	missense	probably damaging	1.00
R3824:Zfp12	UTSW	5	143,226,077 (GRCm39)	missense	probably benign	0.12
R4772:Zfp12	UTSW	5	143,225,755 (GRCm39)	missense	probably damaging	1.00
R4786:Zfp12	UTSW	5	143,231,257 (GRCm39)	missense	probably damaging	0.99
R5255:Zfp12	UTSW	5	143,226,134 (GRCm39)	missense	probably null	0.08
R5496:Zfp12	UTSW	5	143,230,550 (GRCm39)	nonsense	probably null
R5542:Zfp12	UTSW	5	143,230,240 (GRCm39)	missense	possibly damaging	0.75
R5637:Zfp12	UTSW	5	143,231,451 (GRCm39)	missense	probably damaging	1.00
R5742:Zfp12	UTSW	5	143,230,945 (GRCm39)	missense	probably damaging	1.00
R5907:Zfp12	UTSW	5	143,225,743 (GRCm39)	missense	probably damaging	1.00
R6701:Zfp12	UTSW	5	143,230,219 (GRCm39)	missense	probably benign	0.21
R7166:Zfp12	UTSW	5	143,231,257 (GRCm39)	missense	possibly damaging	0.85
R7188:Zfp12	UTSW	5	143,225,749 (GRCm39)	missense	probably damaging	0.99
R7285:Zfp12	UTSW	5	143,230,444 (GRCm39)	missense	probably damaging	1.00
R7404:Zfp12	UTSW	5	143,226,099 (GRCm39)	missense	probably damaging	1.00
R7902:Zfp12	UTSW	5	143,231,535 (GRCm39)	missense	probably damaging	0.99
R8085:Zfp12	UTSW	5	143,230,681 (GRCm39)	missense	probably damaging	1.00
R9147:Zfp12	UTSW	5	143,230,389 (GRCm39)	missense	probably damaging	1.00
R9148:Zfp12	UTSW	5	143,230,389 (GRCm39)	missense	probably damaging	1.00
R9172:Zfp12	UTSW	5	143,231,220 (GRCm39)	missense	probably damaging	1.00
R9302:Zfp12	UTSW	5	143,230,421 (GRCm39)	missense	probably damaging	1.00
R9783:Zfp12	UTSW	5	143,230,513 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTGGCAAGACGTTCTCTC -3'
(R):5'- TACGACATCCGAGAGAAGGC -3'

Sequencing Primer
(F):5'- GGGAAGTCCTTCTACCTGAACTCAG -3'
(R):5'- GACATCCGAGAGAAGGCTTTCC -3'

Posted On

2014-10-16