Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Zfp12'

216667

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

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

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143220918-143234589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143231133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 487 (E487K)

Ref Sequence

ENSEMBL: ENSMUSP00000076693 (fasta)

Gene Model

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

AlphaFold

Q7TSI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032591
AA Change: E519K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: E519K

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: E487K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: E487K

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

Meta Mutation Damage Score

0.6052

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adamts5	C	A	16: 85,696,131 (GRCm39)	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Aen	G	C	7: 78,552,420 (GRCm39)	E32Q	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgap44	A	G	11: 64,902,922 (GRCm39)	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
Bmpr2	T	C	1: 59,907,556 (GRCm39)	V883A	possibly damaging	Het
Bpifa1	A	T	2: 153,987,554 (GRCm39)	I135F	probably damaging	Het
Bsn	A	G	9: 107,991,850 (GRCm39)	F1301L	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,376,861 (GRCm39)	E1434G	probably damaging	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,944,957 (GRCm39)	T450M	probably benign	Het
Dlg4	A	G	11: 69,930,401 (GRCm39)	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,931,359 (GRCm39)	T1458K	probably benign	Het
Dock5	A	T	14: 68,023,765 (GRCm39)	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,713,605 (GRCm39)	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fndc11	A	T	2: 180,863,627 (GRCm39)	D144V	probably benign	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Ganab	T	A	19: 8,888,172 (GRCm39)	D439E	probably damaging	Het
Gm10228	C	A	16: 88,838,241 (GRCm39)	G21V	unknown	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,774,629 (GRCm39)	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Kcnq2	T	A	2: 180,730,244 (GRCm39)	D446V	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Lrrcc1	A	G	3: 14,615,453 (GRCm39)	R394G	probably benign	Het
Lrrk2	G	A	15: 91,620,864 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Msrb3	A	G	10: 120,687,913 (GRCm39)	V54A	probably damaging	Het
Muc21	A	T	17: 35,933,416 (GRCm39)		probably benign	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,111,476 (GRCm39)	T1314I	probably damaging	Het
Nes	A	G	3: 87,885,821 (GRCm39)	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,434,295 (GRCm39)	Q285P	probably damaging	Het
Nkd1	C	T	8: 89,318,745 (GRCm39)	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Or10ak11	T	C	4: 118,687,223 (GRCm39)	N139S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or5b3	T	C	19: 13,388,143 (GRCm39)	V70A	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Otx1	G	T	11: 21,948,482 (GRCm39)	T46K	probably damaging	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,611,952 (GRCm39)	L304*	probably null	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,820,008 (GRCm39)	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,470,196 (GRCm39)	D19G	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Rimbp3	G	A	16: 17,028,291 (GRCm39)	V572I	probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Syngr3	T	C	17: 24,906,680 (GRCm39)	N45S	probably benign	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Usf2	T	C	7: 30,655,663 (GRCm39)	T1A	probably null	Het
Vill	A	T	9: 118,887,560 (GRCm39)	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp24	AC	A	18: 24,147,476 (GRCm39)		probably null	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- TGGCAAGACGTTCTCTCAGAAGTC -3'
(R):5'- ATCTGGGAGAAGCATTTCCC -3'

Posted On

2014-08-01