Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Zfp39'

547266

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: 0.152) question?

Stock #

R7045 (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 T at 58781269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 498 (C498S)

Ref Sequence

ENSEMBL: ENSMUSP00000099764 (fasta)

Gene Model

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

AlphaFold

Q02525

Predicted Effect

unknown
Transcript: ENSMUST00000102703
AA Change: C498S

SMART Domains

Protein: ENSMUSP00000099764
Gene: ENSMUSG00000037001
AA Change: C498S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,628,735 (GRCm39)	Y18*	probably null	Het
Ank2	C	A	3: 126,806,393 (GRCm39)	A583S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,546 (GRCm39)	V518A	possibly damaging	Het
Atp8b4	T	C	2: 126,214,115 (GRCm39)	N706S	probably benign	Het
Bace2	A	G	16: 97,200,865 (GRCm39)	N111S	probably damaging	Het
Cnp	A	T	11: 100,471,184 (GRCm39)	R275S	probably benign	Het
Cs	T	A	10: 128,188,586 (GRCm39)	M104K	probably benign	Het
Ctcfl	G	A	2: 172,954,167 (GRCm39)	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,645,763 (GRCm39)	I81V	probably benign	Het
Ddx19a	A	G	8: 111,719,706 (GRCm39)	V30A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dock6	G	A	9: 21,733,107 (GRCm39)	A1062V	probably damaging	Het
Dpysl2	T	C	14: 67,067,395 (GRCm39)	D172G	probably benign	Het
Eml2	A	G	7: 18,935,504 (GRCm39)	D638G	probably damaging	Het
Epb41l4b	C	A	4: 57,103,522 (GRCm39)	A105S	possibly damaging	Het
Fat4	A	G	3: 38,942,750 (GRCm39)	I548V	probably benign	Het
Gabrb2	G	A	11: 42,484,758 (GRCm39)	A272T	probably damaging	Het
Gask1a	T	C	9: 121,794,707 (GRCm39)	L287P	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,122,349 (GRCm39)	G477C	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,755,259 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Loxl4	G	T	19: 42,595,074 (GRCm39)	N200K	probably damaging	Het
Lrba	T	C	3: 86,192,398 (GRCm39)	V104A	probably benign	Het
Lyst	T	A	13: 13,809,485 (GRCm39)	V385D	probably benign	Het
Lyst	T	A	13: 13,812,293 (GRCm39)	C902S	probably damaging	Het
Mrpl28	T	C	17: 26,345,261 (GRCm39)	F227S	probably benign	Het
Mtmr3	A	T	11: 4,448,896 (GRCm39)	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,465,732 (GRCm39)	V80A	probably damaging	Het
Nid2	C	T	14: 19,829,749 (GRCm39)	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,269,226 (GRCm39)	N145D	probably benign	Het
Nup210	A	T	6: 91,031,433 (GRCm39)	I812N	probably damaging	Het
Or2ak6	A	T	11: 58,592,495 (GRCm39)		probably benign	Het
Or2g7	C	T	17: 38,378,862 (GRCm39)	H267Y	probably benign	Het
Or2y17	A	T	11: 49,231,757 (GRCm39)	T133S	probably damaging	Het
Or52n4b	A	G	7: 108,144,452 (GRCm39)	K238R	probably damaging	Het
Or5b114-ps1	C	A	19: 13,352,336 (GRCm39)	N3K	probably damaging	Het
Or8c11	T	A	9: 38,289,729 (GRCm39)	M184K	probably damaging	Het
Or8k16	A	G	2: 85,520,255 (GRCm39)	S161G	possibly damaging	Het
Pcdhb6	A	C	18: 37,469,329 (GRCm39)	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,153,683 (GRCm39)	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,159,100 (GRCm39)		probably benign	Het
Sbk2	A	G	7: 4,961,905 (GRCm39)	I127T	probably damaging	Het
Smchd1	A	C	17: 71,722,039 (GRCm39)	S817A	probably benign	Het
Speer4b	A	T	5: 27,705,123 (GRCm39)	N83K	probably damaging	Het
Strc	A	T	2: 121,201,207 (GRCm39)	L1296Q	probably damaging	Het
Thap11	C	A	8: 106,582,215 (GRCm39)	R75S	possibly damaging	Het
Unc13a	A	C	8: 72,111,407 (GRCm39)	L268R	possibly damaging	Het
Zfp507	T	C	7: 35,494,978 (GRCm39)	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,897,712 (GRCm39)	Y120C	probably benign	Het
Zfp882	G	A	8: 72,667,093 (GRCm39)		probably null	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
R6174:Zfp39	UTSW	11	58,782,213 (GRCm39)	missense	probably benign	0.01
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
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'- CTGGTGAAAAGCCTTCTTGC -3'
(R):5'- TACCGCAAGTCACACCTTGG -3'

Sequencing Primer
(F):5'- CCTCACACGAGTATGGCTTGTAG -3'
(R):5'- TTGGCAGGCACCAGAAAATTC -3'

Posted On

2019-05-13