Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Zfp12'

565933

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

045393-MU

Accession Numbers

Essential gene?

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

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143220918-143234589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143230444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 289 (K289R)

Ref Sequence

ENSEMBL: ENSMUSP00000032591 (fasta)

Gene Model

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

AlphaFold

Q7TSI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032591
AA Change: K289R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: K289R

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: K257R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: K257R

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

probably benign
Transcript: ENSMUST00000162861

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,388,314 (GRCm39)	C185*	probably null	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Adam1b	T	G	5: 121,639,056 (GRCm39)	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920 (GRCm39)	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,439,258 (GRCm39)	Q135L	probably benign	Het
Clca3b	T	C	3: 144,543,519 (GRCm39)	I437V	probably benign	Het
Cldn15	A	T	5: 137,001,327 (GRCm39)	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,313,848 (GRCm39)	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,662,944 (GRCm39)	C353*	probably null	Het
Dhcr24	T	A	4: 106,428,716 (GRCm39)		probably null	Het
Dock1	T	G	7: 134,346,737 (GRCm39)	L223R	probably benign	Het
Ece1	T	A	4: 137,641,074 (GRCm39)		probably null	Het
Efcab5	A	G	11: 77,028,170 (GRCm39)	V387A	probably benign	Het
Efcab5	A	G	11: 77,029,041 (GRCm39)	F97L	possibly damaging	Het
Eme2	A	T	17: 25,113,543 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,536,059 (GRCm39)	T447I	probably benign	Het
Fam222b	T	C	11: 78,034,007 (GRCm39)	S17P	probably benign	Het
Fbln1	A	G	15: 85,121,829 (GRCm39)	I317V	probably benign	Het
Fn1	T	C	1: 71,676,498 (GRCm39)	K578E	probably damaging	Het
Fscb	A	T	12: 64,518,323 (GRCm39)	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200 (GRCm39)		probably null	Het
Hexa	T	A	9: 59,471,222 (GRCm39)	I492K	probably benign	Het
Inpp5e	G	A	2: 26,287,870 (GRCm39)	A642V	probably benign	Het
Ints11	C	T	4: 155,970,568 (GRCm39)	A241V	probably damaging	Het
Irs2	A	G	8: 11,056,797 (GRCm39)	L545P	probably damaging	Het
Katnal2	G	A	18: 77,081,271 (GRCm39)	A409V	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,064,877 (GRCm39)	K138R	probably damaging	Het
Lcor	A	G	19: 41,572,754 (GRCm39)	K503R	possibly damaging	Het
Lpp	G	A	16: 24,796,029 (GRCm39)	A558T	probably damaging	Het
Lypla1	T	C	1: 4,911,321 (GRCm39)	I202T	probably benign	Het
Magi3	G	A	3: 103,941,430 (GRCm39)	P842S	probably benign	Het
Meioc	G	A	11: 102,557,168 (GRCm39)	V25M	probably benign	Het
Mthfr	C	T	4: 148,138,056 (GRCm39)	T557I	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or2t44	T	A	11: 58,677,310 (GRCm39)	Y83*	probably null	Het
Or5d20-ps1	A	T	2: 87,932,049 (GRCm39)	I94N	probably damaging	Het
Osbpl10	A	T	9: 115,052,771 (GRCm39)	I440F	probably damaging	Het
Otx2	G	A	14: 48,898,922 (GRCm39)	A36V	probably benign	Het
Parg	A	G	14: 31,932,465 (GRCm39)	Y435C	probably damaging	Het
Parvb	A	T	15: 84,166,985 (GRCm39)	D100V	possibly damaging	Het
Prss27	A	G	17: 24,264,665 (GRCm39)	H276R	probably benign	Het
Prune1	T	A	3: 95,162,357 (GRCm39)	S439C	probably damaging	Het
Pudp	C	G	18: 50,701,287 (GRCm39)	E149Q	possibly damaging	Het
Qng1	T	C	13: 58,532,199 (GRCm39)	Y119C	probably damaging	Het
Sin3a	C	A	9: 57,034,583 (GRCm39)	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,787,471 (GRCm39)	D927G	probably benign	Het
Stx18	C	T	5: 38,262,251 (GRCm39)	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,310,610 (GRCm39)	S175P	possibly damaging	Het
Tinag	T	C	9: 76,952,943 (GRCm39)	T14A	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Trpm1	G	T	7: 63,859,729 (GRCm39)	E396*	probably null	Het
Txndc11	A	G	16: 10,902,163 (GRCm39)	Y684H	probably damaging	Het
Usp47	G	A	7: 111,692,315 (GRCm39)	E926K	probably benign	Het
Vmn1r233	A	G	17: 21,214,221 (GRCm39)	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,258,049 (GRCm39)		probably null	Het
Zfp950	T	A	19: 61,107,550 (GRCm39)	H511L	probably benign	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
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
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'- GGCACTGTGTTTCTTAATCACC -3'
(R):5'- AGAAGGACTTCCCGCAGTAG -3'

Sequencing Primer
(F):5'- TTCTTAATCACCTGGAAGAGGAGCC -3'
(R):5'- AGTAGCCACACTTGTAGGGCTTC -3'

Posted On

2019-06-26