Mutagenetix > Incidental Mutation

Incidental Mutation 'R6174:Zfp39'

488208

Institutional Source

Beutler Lab

Gene Symbol

Zfp39

Ensembl Gene

ENSMUSG00000037001

Gene Name

zinc finger protein 39

Synonyms

Zfp-39, CTfin33

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6174 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58778979-58795051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58782213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000099764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102703]

AlphaFold

Q02525

Predicted Effect

probably benign
Transcript: ENSMUST00000102703
AA Change: V183A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099764
Gene: ENSMUSG00000037001
AA Change: V183A

Domain	Start	End	E-Value	Type
KRAB	59	119	8.23e-34	SMART
low complexity region	171	180	N/A	INTRINSIC
ZnF_C2H2	298	320	9.58e-3	SMART
ZnF_C2H2	326	347	2.2e2	SMART
ZnF_C2H2	353	373	1.18e2	SMART
ZnF_C2H2	409	431	8.34e-3	SMART
ZnF_C2H2	437	459	7.26e-3	SMART
ZnF_C2H2	465	487	1.53e-1	SMART
ZnF_C2H2	493	515	9.08e-4	SMART
ZnF_C2H2	521	543	2.61e-4	SMART
ZnF_C2H2	549	571	1.12e-3	SMART
ZnF_C2H2	577	599	4.94e-5	SMART
ZnF_C2H2	605	627	5.14e-3	SMART
ZnF_C2H2	633	655	1.38e-3	SMART
ZnF_C2H2	661	683	6.78e-3	SMART
ZnF_C2H2	689	711	5.14e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132394

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,919,517 (GRCm39)	D725E	probably damaging	Het
Bco1	T	A	8: 117,840,273 (GRCm39)	Y264N	probably damaging	Het
Cd109	G	A	9: 78,572,828 (GRCm39)		probably null	Het
Cdc45	T	C	16: 18,613,454 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,398,564 (GRCm39)	E578G	probably benign	Het
Cracr2b	T	A	7: 141,044,749 (GRCm39)	L193Q	probably damaging	Het
Dmxl2	G	A	9: 54,301,011 (GRCm39)	L2367F	probably damaging	Het
Dop1b	T	G	16: 93,563,110 (GRCm39)	D871E	probably damaging	Het
Emc1	T	C	4: 139,093,842 (GRCm39)	Y651H	probably benign	Het
Enox1	T	C	14: 77,745,627 (GRCm39)	S41P	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,384 (GRCm39)	Y399C	probably damaging	Het
Foxa1	A	G	12: 57,589,686 (GRCm39)	L178P	probably damaging	Het
Gm57859	C	A	11: 113,579,801 (GRCm39)	H399N	possibly damaging	Het
Grm7	T	A	6: 111,223,258 (GRCm39)	Y433N	probably benign	Het
Gsta5	T	A	9: 78,211,737 (GRCm39)	Y166*	probably null	Het
Gtf3c2	G	A	5: 31,315,555 (GRCm39)	R813C	probably damaging	Het
H4c9	T	A	13: 22,225,247 (GRCm39)	T83S	probably benign	Het
Hacd3	T	C	9: 64,912,909 (GRCm39)	E117G	probably damaging	Het
Hmcn1	G	A	1: 150,522,535 (GRCm39)	T3455M	probably benign	Het
Itga6	A	G	2: 71,664,053 (GRCm39)	I61V	possibly damaging	Het
Jaml	T	C	9: 45,000,071 (GRCm39)	L81P	probably damaging	Het
Loxhd1	T	C	18: 77,499,874 (GRCm39)	F782S	probably damaging	Het
Lrp1b	T	C	2: 41,339,275 (GRCm39)	H742R	probably benign	Het
Macrod2	G	T	2: 140,242,895 (GRCm39)	M1I	probably null	Het
Mcf2l	G	A	8: 13,063,849 (GRCm39)	W1020*	probably null	Het
Msgn1	A	G	12: 11,258,924 (GRCm39)	L9P	probably damaging	Het
Ngdn	C	A	14: 55,259,556 (GRCm39)	S202R	probably benign	Het
Notch1	C	T	2: 26,375,454 (GRCm39)	G50R	possibly damaging	Het
Or14c46	A	T	7: 85,918,009 (GRCm39)	D329E	probably benign	Het
Or1a1b	A	T	11: 74,097,466 (GRCm39)	I192N	probably damaging	Het
Or2d2b	A	T	7: 106,705,714 (GRCm39)	M118K	probably damaging	Het
Or5d14	A	T	2: 87,880,646 (GRCm39)	C107*	probably null	Het
Osbpl10	A	G	9: 114,938,555 (GRCm39)	S211G	probably benign	Het
Pabpc6	G	A	17: 9,887,084 (GRCm39)	A489V	probably benign	Het
Pcdhb13	A	T	18: 37,576,474 (GRCm39)	D284V	possibly damaging	Het
Pde6c	T	C	19: 38,128,677 (GRCm39)	S214P	possibly damaging	Het
Pofut1	C	T	2: 153,101,536 (GRCm39)	H192Y	probably damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Prc1	G	A	7: 79,954,544 (GRCm39)	S165N	probably benign	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Ptpru	T	C	4: 131,513,065 (GRCm39)	I881V	probably benign	Het
Radil	A	G	5: 142,472,870 (GRCm39)	S847P	probably benign	Het
Rimklb	A	G	6: 122,433,371 (GRCm39)	S317P	probably damaging	Het
Sdhc	A	T	1: 170,966,271 (GRCm39)	L78*	probably null	Het
Skint6	T	A	4: 112,696,510 (GRCm39)	I1042F	possibly damaging	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc29a1	A	T	17: 45,900,854 (GRCm39)	H71Q	probably damaging	Het
Slfn14	A	T	11: 83,167,429 (GRCm39)	D695E	probably damaging	Het
Spg11	A	T	2: 121,917,286 (GRCm39)		probably null	Het
Srgap2	A	G	1: 131,217,354 (GRCm39)	V986A	probably benign	Het
Stab1	A	T	14: 30,884,476 (GRCm39)	C172*	probably null	Het
Tigd4	A	G	3: 84,502,574 (GRCm39)	H497R	probably benign	Het
Ubn2	G	A	6: 38,438,471 (GRCm39)	G60D	probably damaging	Het
Uckl1	C	T	2: 181,214,866 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,793,236 (GRCm39)	K854N	probably benign	Het
Vps13d	G	A	4: 144,701,763 (GRCm39)	Q3193*	probably null	Het
Wdr26	G	A	1: 181,019,433 (GRCm39)	L315F	probably damaging	Het
Zc3h8	C	A	2: 128,785,775 (GRCm39)	E24*	probably null	Het
Zfp608	C	A	18: 55,121,616 (GRCm39)		probably benign	Het

Other mutations in Zfp39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Zfp39	APN	11	58,783,885 (GRCm39)	splice site	probably benign
IGL01597:Zfp39	APN	11	58,782,369 (GRCm39)	missense	probably damaging	0.96
IGL02055:Zfp39	APN	11	58,782,156 (GRCm39)	missense	probably benign
IGL02456:Zfp39	APN	11	58,793,626 (GRCm39)	nonsense	probably null
IGL02873:Zfp39	APN	11	58,781,848 (GRCm39)	missense	probably benign	0.12
H8562:Zfp39	UTSW	11	58,791,512 (GRCm39)	missense	probably damaging	1.00
R0462:Zfp39	UTSW	11	58,781,232 (GRCm39)	missense	probably benign	0.03
R0513:Zfp39	UTSW	11	58,780,813 (GRCm39)	missense	probably benign	0.09
R1185:Zfp39	UTSW	11	58,793,670 (GRCm39)	missense	possibly damaging	0.91
R1185:Zfp39	UTSW	11	58,793,670 (GRCm39)	missense	possibly damaging	0.91
R1185:Zfp39	UTSW	11	58,793,670 (GRCm39)	missense	possibly damaging	0.91
R1401:Zfp39	UTSW	11	58,781,149 (GRCm39)	missense	probably benign	0.01
R1797:Zfp39	UTSW	11	58,791,486 (GRCm39)	missense	probably damaging	0.96
R2146:Zfp39	UTSW	11	58,781,158 (GRCm39)	missense	probably benign	0.05
R3903:Zfp39	UTSW	11	58,781,001 (GRCm39)	missense	probably benign	0.44
R4303:Zfp39	UTSW	11	58,780,843 (GRCm39)	missense	probably damaging	1.00
R4706:Zfp39	UTSW	11	58,793,633 (GRCm39)	missense	probably benign	0.41
R4957:Zfp39	UTSW	11	58,782,057 (GRCm39)	missense	possibly damaging	0.63
R5092:Zfp39	UTSW	11	58,782,028 (GRCm39)	missense	possibly damaging	0.71
R5158:Zfp39	UTSW	11	58,780,671 (GRCm39)	missense	possibly damaging	0.81
R5292:Zfp39	UTSW	11	58,791,415 (GRCm39)	missense	probably damaging	0.97
R5697:Zfp39	UTSW	11	58,780,661 (GRCm39)	missense	probably benign	0.08
R5906:Zfp39	UTSW	11	58,793,717 (GRCm39)	missense	probably benign
R5925:Zfp39	UTSW	11	58,782,099 (GRCm39)	missense	possibly damaging	0.94
R6177:Zfp39	UTSW	11	58,781,887 (GRCm39)	missense	probably benign	0.27
R6968:Zfp39	UTSW	11	58,782,306 (GRCm39)	missense	probably benign	0.00
R7045:Zfp39	UTSW	11	58,781,269 (GRCm39)	missense	unknown
R7139:Zfp39	UTSW	11	58,781,385 (GRCm39)	missense	probably damaging	1.00
R7421:Zfp39	UTSW	11	58,780,933 (GRCm39)	missense	probably damaging	1.00
R7493:Zfp39	UTSW	11	58,781,869 (GRCm39)	missense	possibly damaging	0.82
R7689:Zfp39	UTSW	11	58,781,469 (GRCm39)	missense	probably damaging	1.00
R8061:Zfp39	UTSW	11	58,793,573 (GRCm39)	missense	probably benign
R8136:Zfp39	UTSW	11	58,782,228 (GRCm39)	missense	probably damaging	0.99
R8955:Zfp39	UTSW	11	58,780,946 (GRCm39)	nonsense	probably null
Z1186:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01
Z1186:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1186:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1186:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1186:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1186:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1186:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1186:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1186:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1186:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1186:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1186:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1186:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1186:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1186:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1187:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1187:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1187:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1187:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1187:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1187:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1187:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1187:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1187:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1187:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1187:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1187:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1187:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1187:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1187:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01
Z1187:Zfp39	UTSW	11	58,781,712 (GRCm39)	missense	probably benign	0.01
Z1187:Zfp39	UTSW	11	58,781,702 (GRCm39)	missense	probably damaging	0.97
Z1188:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1188:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1188:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01
Z1188:Zfp39	UTSW	11	58,781,712 (GRCm39)	missense	probably benign	0.01
Z1188:Zfp39	UTSW	11	58,781,702 (GRCm39)	missense	probably damaging	0.97
Z1188:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1188:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1188:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1188:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1188:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1188:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1188:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1188:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1188:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1188:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1188:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1188:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1189:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1189:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1189:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1189:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1189:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1189:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1189:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1189:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1189:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1189:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1189:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1189:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1189:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1189:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1190:Zfp39	UTSW	11	58,781,702 (GRCm39)	missense	probably damaging	0.97
Z1190:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01
Z1190:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1190:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1190:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1190:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1190:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1190:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1190:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1190:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1190:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1190:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1190:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1190:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1190:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1190:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1191:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1191:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1191:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1191:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1191:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1191:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1191:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1191:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1191:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1191:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1191:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1191:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1191:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1191:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1191:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01
Z1191:Zfp39	UTSW	11	58,781,712 (GRCm39)	missense	probably benign	0.01
Z1191:Zfp39	UTSW	11	58,781,702 (GRCm39)	missense	probably damaging	0.97
Z1192:Zfp39	UTSW	11	58,781,605 (GRCm39)	missense	probably benign	0.09
Z1192:Zfp39	UTSW	11	58,781,597 (GRCm39)	missense	probably benign	0.00
Z1192:Zfp39	UTSW	11	58,781,526 (GRCm39)	missense	possibly damaging	0.50
Z1192:Zfp39	UTSW	11	58,781,274 (GRCm39)	missense	possibly damaging	0.86
Z1192:Zfp39	UTSW	11	58,781,273 (GRCm39)	missense	probably benign	0.16
Z1192:Zfp39	UTSW	11	58,781,130 (GRCm39)	missense	possibly damaging	0.91
Z1192:Zfp39	UTSW	11	58,780,873 (GRCm39)	missense	probably benign	0.01
Z1192:Zfp39	UTSW	11	58,780,871 (GRCm39)	nonsense	probably null
Z1192:Zfp39	UTSW	11	58,791,409 (GRCm39)	missense	probably benign	0.01
Z1192:Zfp39	UTSW	11	58,791,407 (GRCm39)	missense	probably benign	0.01
Z1192:Zfp39	UTSW	11	58,782,142 (GRCm39)	missense	probably benign
Z1192:Zfp39	UTSW	11	58,782,123 (GRCm39)	missense	probably benign
Z1192:Zfp39	UTSW	11	58,781,967 (GRCm39)	missense	probably damaging	0.99
Z1192:Zfp39	UTSW	11	58,781,751 (GRCm39)	missense	probably benign	0.29
Z1192:Zfp39	UTSW	11	58,781,724 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCATACAACACTGAAACTGCTGTC -3'
(R):5'- TGCTGTAACATGAGCTTGGC -3'

Sequencing Primer
(F):5'- CTGCTGTCCAGTGCCTG -3'
(R):5'- AACATGAGCTTGGCGACTTC -3'

Posted On

2017-10-10