Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Zfp12'

705003

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143220918-143234589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143230421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 281 (H281Q)

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: H281Q

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

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: H281Q

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: H249Q

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

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: H249Q

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,392,956 (GRCm39)	L115P	probably damaging	Het
Acsl1	T	A	8: 46,983,470 (GRCm39)	D494E	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Ak9	A	T	10: 41,196,486 (GRCm39)	I103F		Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Ano4	T	A	10: 88,831,220 (GRCm39)	I468L	probably benign	Het
Anxa2r1	A	G	13: 120,496,626 (GRCm39)	I81T	probably benign	Het
Arhgef10l	G	A	4: 140,242,548 (GRCm39)	S959L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,853,365 (GRCm39)	I776M	probably benign	Het
Col3a1	C	T	1: 45,350,980 (GRCm39)	Q25*	probably null	Het
Crabp2	C	A	3: 87,859,833 (GRCm39)	L100I	probably benign	Het
Dnah5	A	G	15: 28,240,032 (GRCm39)	D463G	probably benign	Het
Dst	T	C	1: 34,264,636 (GRCm39)	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,726,148 (GRCm39)	Y182H	probably damaging	Het
Fhip1a	C	A	3: 85,579,941 (GRCm39)	D755Y	probably damaging	Het
Fras1	T	A	5: 96,682,751 (GRCm39)	C83S	probably damaging	Het
Frrs1	G	T	3: 116,692,899 (GRCm39)		probably null	Het
Gcnt3	A	G	9: 69,942,529 (GRCm39)	L13P	possibly damaging	Het
Gm8094	T	C	14: 42,932,834 (GRCm39)	D88G	probably benign	Het
Hfe	C	T	13: 23,890,025 (GRCm39)	M249I	probably benign	Het
Hipk1	T	C	3: 103,685,099 (GRCm39)	E172G	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,733 (GRCm39)	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,008,481 (GRCm39)	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,904,947 (GRCm39)	D3208G	possibly damaging	Het
Mbnl2	A	G	14: 120,622,950 (GRCm39)	T163A	probably benign	Het
Mre11a	T	A	9: 14,696,826 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,776,238 (GRCm39)	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,430,882 (GRCm39)	S390P	probably damaging	Het
Or10ag53	T	A	2: 87,082,906 (GRCm39)	F208L	probably benign	Het
Pde3b	A	G	7: 114,122,621 (GRCm39)	T730A	probably damaging	Het
Pdzd2	G	T	15: 12,374,342 (GRCm39)	T1931N	possibly damaging	Het
Pla2g15	C	T	8: 106,877,201 (GRCm39)	A28V	probably benign	Het
Pmfbp1	A	T	8: 110,268,474 (GRCm39)	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,901,683 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,721,891 (GRCm39)	K312E	probably benign	Het
Prmt5	G	A	14: 54,749,583 (GRCm39)	T269I	probably benign	Het
Pwp2	A	G	10: 78,009,540 (GRCm39)	S793P	probably benign	Het
Rbm12b1	C	A	4: 12,146,181 (GRCm39)	H718N	probably benign	Het
Rfx1	T	A	8: 84,817,662 (GRCm39)	M512K	possibly damaging	Het
Rp1	T	C	1: 4,416,789 (GRCm39)	E1441G	probably damaging	Het
Slc16a6	C	T	11: 109,350,634 (GRCm39)	V207I	probably benign	Het
Slc6a9	G	A	4: 117,706,596 (GRCm39)	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,528,047 (GRCm39)	V39D	probably benign	Het
Strc	A	T	2: 121,211,336 (GRCm39)	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565 (GRCm39)	E823K	possibly damaging	Het
Tat	A	G	8: 110,725,031 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,968,800 (GRCm39)	N190K	possibly damaging	Het
Tomt	T	C	7: 101,549,826 (GRCm39)	E154G	probably damaging	Het
Topaz1	T	A	9: 122,617,887 (GRCm39)	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,727,153 (GRCm39)	V407M	probably benign	Het
Ttll5	T	A	12: 85,873,338 (GRCm39)	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,609,940 (GRCm39)	Y380*	probably null	Het
Usp46	A	G	5: 74,163,922 (GRCm39)	Y272H	probably benign	Het
Vps39	A	T	2: 120,151,525 (GRCm39)		probably benign	Het
Zfp142	C	A	1: 74,606,302 (GRCm39)	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	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
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
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
R9783:Zfp12	UTSW	5	143,230,513 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGGAGGAGCCCTTTGAATAC -3'
(R):5'- TCCTCTGGTGCTGAATGAGG -3'

Sequencing Primer
(F):5'- ACGTTGAGTGCCAGAAATCCTTC -3'
(R):5'- GCTGAATGAGGTGCAGCTTC -3'

Posted On

2022-03-25