Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Zfp12'

460702

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5907 (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 143239988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 17 (F17S)

Ref Sequence

ENSEMBL: ENSMUSP00000076693 (fasta)

Gene Model

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

AlphaFold

Q7TSI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032591
AA Change: F17S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: F17S

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 damaging
Transcript: ENSMUST00000075916
AA Change: F17S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137971
Gene: ENSMUSG00000029587
AA Change: F17S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077485
AA Change: F17S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: F17S

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 damaging
Transcript: ENSMUST00000162861
AA Change: F17S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.9696

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,066,150 (GRCm38)	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822 (GRCm38)	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827 (GRCm38)	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906 (GRCm38)	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910 (GRCm38)	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228 (GRCm38)	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122 (GRCm38)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784 (GRCm38)		probably benign	Het
Ak5	T	C	3: 152,615,952 (GRCm38)	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204 (GRCm38)	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917 (GRCm38)	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222 (GRCm38)	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797 (GRCm38)	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719 (GRCm38)	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379 (GRCm38)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642 (GRCm38)		probably benign	Het
Csmd2	C	T	4: 128,197,385 (GRCm38)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371 (GRCm38)		probably benign	Het
Dnpep	C	T	1: 75,311,991 (GRCm38)		probably null	Het
Dopey2	A	T	16: 93,801,581 (GRCm38)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920 (GRCm38)	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112 (GRCm38)		probably null	Het
Ero1lb	T	A	13: 12,600,318 (GRCm38)	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543 (GRCm38)	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254 (GRCm38)		probably null	Het
Fap	A	T	2: 62,544,356 (GRCm38)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337 (GRCm38)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383 (GRCm38)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503 (GRCm38)	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156 (GRCm38)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097 (GRCm38)	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754 (GRCm38)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278 (GRCm38)		probably benign	Het
Ift140	A	G	17: 25,092,371 (GRCm38)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578 (GRCm38)		probably null	Het
Itga4	C	T	2: 79,322,656 (GRCm38)	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981 (GRCm38)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893 (GRCm38)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577 (GRCm38)		probably null	Het
Klk15	A	G	7: 43,938,759 (GRCm38)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706 (GRCm38)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293 (GRCm38)		probably benign	Het
Laptm4b	A	G	15: 34,258,684 (GRCm38)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097 (GRCm38)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503 (GRCm38)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050 (GRCm38)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791 (GRCm38)		probably benign	Het
Nup133	A	G	8: 123,916,299 (GRCm38)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983 (GRCm38)	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874 (GRCm38)	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957 (GRCm38)	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219 (GRCm38)	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876 (GRCm38)	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188 (GRCm38)	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540 (GRCm38)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651 (GRCm38)		probably null	Het
Plekhf1	A	T	7: 38,222,170 (GRCm38)		probably null	Het
Rars	T	C	11: 35,828,648 (GRCm38)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808 (GRCm38)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682 (GRCm38)		probably null	Het
Scaf1	A	G	7: 45,013,592 (GRCm38)		probably benign	Het
Serpinb11	A	T	1: 107,372,189 (GRCm38)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103 (GRCm38)	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175 (GRCm38)		probably null	Het
Slfn1	C	A	11: 83,121,176 (GRCm38)	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295 (GRCm38)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319 (GRCm38)	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674 (GRCm38)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm38)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632 (GRCm38)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534 (GRCm38)		probably benign	Het
Ubqln5	T	G	7: 104,128,574 (GRCm38)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085 (GRCm38)	D22G	probably benign	Het
Vars	A	G	17: 35,012,376 (GRCm38)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453 (GRCm38)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871 (GRCm38)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066 (GRCm38)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428 (GRCm38)		probably benign	Het
Zbtb2	A	T	10: 4,368,592 (GRCm38)	L478Q	possibly damaging	Het
Zfp219	T	A	14: 52,007,149 (GRCm38)		probably null	Het
Zfp629	G	A	7: 127,610,370 (GRCm38)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173 (GRCm38)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072 (GRCm38)	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523 (GRCm38)	T396I	probably benign	Het

Other mutations in Zfp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Zfp12	APN	5	143,244,796 (GRCm38)	missense	probably damaging	1.00
IGL02870:Zfp12	APN	5	143,245,331 (GRCm38)	missense	probably damaging	0.99
IGL02975:Zfp12	APN	5	143,244,059 (GRCm38)	unclassified	probably benign
R0362:Zfp12	UTSW	5	143,245,223 (GRCm38)	missense	probably damaging	0.97
R0723:Zfp12	UTSW	5	143,244,883 (GRCm38)	missense	probably damaging	1.00
R1104:Zfp12	UTSW	5	143,245,745 (GRCm38)	missense	probably damaging	1.00
R1403:Zfp12	UTSW	5	143,244,780 (GRCm38)	nonsense	probably null
R1403:Zfp12	UTSW	5	143,244,780 (GRCm38)	nonsense	probably null
R1774:Zfp12	UTSW	5	143,245,229 (GRCm38)	missense	probably damaging	1.00
R1895:Zfp12	UTSW	5	143,245,378 (GRCm38)	missense	probably damaging	1.00
R1946:Zfp12	UTSW	5	143,245,378 (GRCm38)	missense	probably damaging	1.00
R2280:Zfp12	UTSW	5	143,245,493 (GRCm38)	missense	probably damaging	0.99
R3824:Zfp12	UTSW	5	143,240,322 (GRCm38)	missense	probably benign	0.12
R4772:Zfp12	UTSW	5	143,240,000 (GRCm38)	missense	probably damaging	1.00
R4786:Zfp12	UTSW	5	143,245,502 (GRCm38)	missense	probably damaging	0.99
R5255:Zfp12	UTSW	5	143,240,379 (GRCm38)	missense	probably null	0.08
R5496:Zfp12	UTSW	5	143,244,795 (GRCm38)	nonsense	probably null
R5542:Zfp12	UTSW	5	143,244,485 (GRCm38)	missense	possibly damaging	0.75
R5637:Zfp12	UTSW	5	143,245,696 (GRCm38)	missense	probably damaging	1.00
R5742:Zfp12	UTSW	5	143,245,190 (GRCm38)	missense	probably damaging	1.00
R6701:Zfp12	UTSW	5	143,244,464 (GRCm38)	missense	probably benign	0.21
R7166:Zfp12	UTSW	5	143,245,502 (GRCm38)	missense	possibly damaging	0.85
R7188:Zfp12	UTSW	5	143,239,994 (GRCm38)	missense	probably damaging	0.99
R7285:Zfp12	UTSW	5	143,244,689 (GRCm38)	missense	probably damaging	1.00
R7404:Zfp12	UTSW	5	143,240,344 (GRCm38)	missense	probably damaging	1.00
R7902:Zfp12	UTSW	5	143,245,780 (GRCm38)	missense	probably damaging	0.99
R8085:Zfp12	UTSW	5	143,244,926 (GRCm38)	missense	probably damaging	1.00
R9147:Zfp12	UTSW	5	143,244,634 (GRCm38)	missense	probably damaging	1.00
R9148:Zfp12	UTSW	5	143,244,634 (GRCm38)	missense	probably damaging	1.00
R9172:Zfp12	UTSW	5	143,245,465 (GRCm38)	missense	probably damaging	1.00
R9302:Zfp12	UTSW	5	143,244,666 (GRCm38)	missense	probably damaging	1.00
R9783:Zfp12	UTSW	5	143,244,758 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCTGGTACAAGCACTCATATTG -3'
(R):5'- AAGCTGCTCACAGTCACCTC -3'

Sequencing Primer
(F):5'- ACACTTTTCCATAGCCCCGAGG -3'
(R):5'- TCAAAGCTAAAGGCATCAGCTCTG -3'

Posted On

2017-02-28