Mutagenetix > Incidental Mutation

Incidental Mutation 'R5697:Zfp39'

450748

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 #

R5697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58778979-58795051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58780661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 700 (H700Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099764 (fasta)

Gene Model

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

AlphaFold

Q02525

Predicted Effect

probably benign
Transcript: ENSMUST00000102703
AA Change: H700Q

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099764
Gene: ENSMUSG00000037001
AA Change: H700Q

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,713,630 (GRCm39)	F550S	possibly damaging	Het
Adam34l	A	T	8: 44,079,616 (GRCm39)	W203R	probably damaging	Het
Adamts15	G	A	9: 30,823,090 (GRCm39)	T326I	probably damaging	Het
Akap9	T	C	5: 4,010,170 (GRCm39)	L309P	possibly damaging	Het
Arfgef1	T	C	1: 10,231,063 (GRCm39)	M1149V	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Capn9	C	T	8: 125,315,810 (GRCm39)	H39Y	unknown	Het
Ccn2	A	G	10: 24,473,354 (GRCm39)	T298A	probably benign	Het
Celsr2	G	A	3: 108,311,237 (GRCm39)	Q1425*	probably null	Het
Chd6	A	G	2: 160,859,971 (GRCm39)	L610P	probably damaging	Het
Clasp2	A	T	9: 113,689,190 (GRCm39)	T424S	probably benign	Het
Clec5a	T	C	6: 40,559,204 (GRCm39)	D35G	probably benign	Het
Dnhd1	T	G	7: 105,323,395 (GRCm39)	V599G	probably damaging	Het
Enpep	T	C	3: 129,102,772 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,527,952 (GRCm39)	L320F	probably damaging	Het
H2bc22	C	T	13: 21,971,961 (GRCm39)		probably null	Het
Hivep3	C	T	4: 119,954,152 (GRCm39)	H823Y	possibly damaging	Het
Ighv1-59	C	T	12: 115,298,968 (GRCm39)	E29K	possibly damaging	Het
Itsn1	A	G	16: 91,598,477 (GRCm39)	I137V	possibly damaging	Het
Kntc1	A	G	5: 123,903,070 (GRCm39)	T316A	probably benign	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Megf6	G	T	4: 154,342,686 (GRCm39)	A642S	probably null	Het
Mrgprb3	G	T	7: 48,292,673 (GRCm39)	L293M	probably damaging	Het
Nes	A	G	3: 87,885,155 (GRCm39)	E1138G	probably damaging	Het
Niban1	T	C	1: 151,576,012 (GRCm39)	F379L	probably damaging	Het
Pias2	A	G	18: 77,220,884 (GRCm39)	K373R	probably damaging	Het
Prss23	A	G	7: 89,159,190 (GRCm39)	F293S	probably damaging	Het
Pzp	A	G	6: 128,502,152 (GRCm39)	Y66H	probably benign	Het
Rnf213	A	G	11: 119,374,720 (GRCm39)	R5061G	possibly damaging	Het
Sergef	A	G	7: 46,288,683 (GRCm39)		probably benign	Het
Slc7a1	A	G	5: 148,270,792 (GRCm39)	V558A	probably benign	Het
Smc2	A	G	4: 52,459,045 (GRCm39)	E480G	probably benign	Het
Smyd3	T	G	1: 179,239,247 (GRCm39)	K111T	probably damaging	Het
Tchh	A	T	3: 93,352,350 (GRCm39)	R597*	probably null	Het
Ttc6	G	T	12: 57,724,000 (GRCm39)	V1043L	probably benign	Het
Vmn1r10	T	G	6: 57,090,474 (GRCm39)	L22R	probably damaging	Het
Vmn2r56	T	C	7: 12,449,917 (GRCm39)	D107G	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Zfp365	A	G	10: 67,745,470 (GRCm39)	Y103H	probably benign	Het
Zfp982	A	T	4: 147,597,046 (GRCm39)	E134D	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
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
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'- TAGCACTTGCAAAGGTGTCC -3'
(R):5'- GGAAAACCTTCCTCCATAAGTCCTC -3'

Sequencing Primer
(F):5'- AGGTGTCCTTTCTTGCAAAAAC -3'
(R):5'- GCTACAAGCCATACTCGTGTGAG -3'

Posted On

2017-01-03