Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Zfp12'

275273

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143235163-143248834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143240322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 72 (V72A)

Ref Sequence

ENSEMBL: ENSMUSP00000137971 (fasta)

Gene Model

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

AlphaFold

Q7TSI0

Predicted Effect

probably benign
Transcript: ENSMUST00000032591
AA Change: Y49H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: Y49H

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
AA Change: V72A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137971
Gene: ENSMUSG00000029587
AA Change: V72A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het

Other mutations in Zfp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Zfp12	APN	5	143244796	missense	probably damaging	1.00
IGL02870:Zfp12	APN	5	143245331	missense	probably damaging	0.99
IGL02975:Zfp12	APN	5	143244059	unclassified	probably benign
R0362:Zfp12	UTSW	5	143245223	missense	probably damaging	0.97
R0723:Zfp12	UTSW	5	143244883	missense	probably damaging	1.00
R1104:Zfp12	UTSW	5	143245745	missense	probably damaging	1.00
R1403:Zfp12	UTSW	5	143244780	nonsense	probably null
R1403:Zfp12	UTSW	5	143244780	nonsense	probably null
R1774:Zfp12	UTSW	5	143245229	missense	probably damaging	1.00
R1895:Zfp12	UTSW	5	143245378	missense	probably damaging	1.00
R1946:Zfp12	UTSW	5	143245378	missense	probably damaging	1.00
R2280:Zfp12	UTSW	5	143245493	missense	probably damaging	0.99
R4772:Zfp12	UTSW	5	143240000	missense	probably damaging	1.00
R4786:Zfp12	UTSW	5	143245502	missense	probably damaging	0.99
R5255:Zfp12	UTSW	5	143240379	missense	probably null	0.08
R5496:Zfp12	UTSW	5	143244795	nonsense	probably null
R5542:Zfp12	UTSW	5	143244485	missense	possibly damaging	0.75
R5637:Zfp12	UTSW	5	143245696	missense	probably damaging	1.00
R5742:Zfp12	UTSW	5	143245190	missense	probably damaging	1.00
R5907:Zfp12	UTSW	5	143239988	missense	probably damaging	1.00
R6701:Zfp12	UTSW	5	143244464	missense	probably benign	0.21
R7166:Zfp12	UTSW	5	143245502	missense	possibly damaging	0.85
R7188:Zfp12	UTSW	5	143239994	missense	probably damaging	0.99
R7285:Zfp12	UTSW	5	143244689	missense	probably damaging	1.00
R7404:Zfp12	UTSW	5	143240344	missense	probably damaging	1.00
R7902:Zfp12	UTSW	5	143245780	missense	probably damaging	0.99
R8085:Zfp12	UTSW	5	143244926	missense	probably damaging	1.00
R9147:Zfp12	UTSW	5	143244634	missense	probably damaging	1.00
R9148:Zfp12	UTSW	5	143244634	missense	probably damaging	1.00
R9172:Zfp12	UTSW	5	143245465	missense	probably damaging	1.00
R9302:Zfp12	UTSW	5	143244666	missense	probably damaging	1.00
R9783:Zfp12	UTSW	5	143244758	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGTGAGCAGCTTGTCCTG -3'
(R):5'- AGCTAGGAACCTTTGATTGTGG -3'

Sequencing Primer
(F):5'- TGACTCCCAGAAGGTCTTGAC -3'
(R):5'- ACGGGTGACTGACTGCCTTC -3'

Posted On

2015-04-02