Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Zfp12'

557934

Institutional Source

Beutler Lab

Gene Symbol

Zfp12

Ensembl Gene

ENSMUSG00000029587

Gene Name

zinc finger protein 12

Synonyms

Zfp-12, Krox-7

MMRRC Submission

045227-MU

Accession Numbers

Essential gene?

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

Stock #

R7166 (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 143231257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 560 (I560N)

Ref Sequence

ENSEMBL: ENSMUSP00000032591 (fasta)

Gene Model

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

AlphaFold

Q7TSI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032591
AA Change: I560N

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: I560N

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: I528N

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

SMART Domains

Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: I528N

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,615,387 (GRCm39)	L272P	possibly damaging	Het
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Fam217a	T	C	13: 35,094,298 (GRCm39)	Y487C	probably benign	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or1r1	A	T	11: 73,875,121 (GRCm39)	F104L	possibly damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Or8h8	T	A	2: 86,753,092 (GRCm39)	K261N	probably damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Spz1	A	G	13: 92,712,435 (GRCm39)	C14R	probably benign	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	probably 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
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'- ACTGTGGCAAGACGTTCTCTC -3'
(R):5'- TACGACATCCGAGAGAAGGC -3'

Sequencing Primer
(F):5'- GGGAAGTCCTTCTACCTGAACTCAG -3'
(R):5'- GACATCCGAGAGAAGGCTTTCC -3'

Posted On

2019-06-26