Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Zfp12'

406359

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

143220918-143234589 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 143229814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032591] [ENSMUST00000075916] [ENSMUST00000077485] [ENSMUST00000162861]

AlphaFold

Q7TSI0

Predicted Effect

probably benign
Transcript: ENSMUST00000032591

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587

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 benign
Transcript: ENSMUST00000077485

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587

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: ENSMUST00000162861

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ank	A	G	15: 27,467,087 (GRCm39)		probably benign	Het
Ankmy2	C	A	12: 36,243,773 (GRCm39)	S329R	possibly damaging	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Eif3i	A	G	4: 129,489,105 (GRCm39)	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Slc12a9	T	C	5: 137,320,705 (GRCm39)	K555R	probably damaging	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Sytl1	T	A	4: 132,988,343 (GRCm39)	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly 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
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
R2280:Zfp12	UTSW	5	143,231,248 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2016-08-02