Mutagenetix > Incidental Mutation

Incidental Mutation 'R4303:Zfp39'

322505

Institutional Source

Beutler Lab

Gene Symbol

Zfp39

Ensembl Gene

ENSMUSG00000037001

Gene Name

zinc finger protein 39

Synonyms

Zfp-39, CTfin33

MMRRC Submission

041090-MU

Accession Numbers

Essential gene?

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

Stock #

R4303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58778979-58795051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58780843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 640 (K640E)

Ref Sequence

ENSEMBL: ENSMUSP00000099764 (fasta)

Gene Model

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

AlphaFold

Q02525

Predicted Effect

probably damaging
Transcript: ENSMUST00000102703
AA Change: K640E

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

SMART Domains

Protein: ENSMUSP00000099764
Gene: ENSMUSG00000037001
AA Change: K640E

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

Meta Mutation Damage Score

0.2061

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (44/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,606,055 (GRCm39)	S247P	probably damaging	Het
Atg4b	A	G	1: 93,695,984 (GRCm39)	E41G	probably benign	Het
Bckdk	T	C	7: 127,504,502 (GRCm39)		probably benign	Het
Cacna2d1	A	G	5: 16,507,246 (GRCm39)		probably null	Het
Chaf1a	A	G	17: 56,351,068 (GRCm39)	D16G	unknown	Het
Defb12	A	G	8: 19,162,737 (GRCm39)	I65T	probably benign	Het
Dnah7c	T	C	1: 46,787,738 (GRCm39)	Y3264H	probably damaging	Het
Ehhadh	C	A	16: 21,581,602 (GRCm39)	K463N	probably damaging	Het
Ehmt2	G	A	17: 35,127,724 (GRCm39)	R901Q	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Ern2	T	C	7: 121,777,069 (GRCm39)		probably null	Het
Esp6	A	G	17: 40,876,035 (GRCm39)	T28A	possibly damaging	Het
Gm17333	A	C	16: 77,649,767 (GRCm39)		noncoding transcript	Het
Heatr5a	T	C	12: 52,003,008 (GRCm39)	T165A	probably benign	Het
Hoxa5	T	C	6: 52,181,240 (GRCm39)	S31G	probably benign	Het
Ift80	A	G	3: 68,801,507 (GRCm39)	I744T	probably benign	Het
Kalrn	T	C	16: 34,055,761 (GRCm39)	K853E	probably damaging	Het
Krt36	A	T	11: 99,994,239 (GRCm39)	D279E	possibly damaging	Het
Map3k11	T	A	19: 5,740,852 (GRCm39)	V193E	probably damaging	Het
Mrgpra4	T	A	7: 47,630,684 (GRCm39)	M306L	probably benign	Het
Myo1a	A	G	10: 127,549,602 (GRCm39)	T428A	probably benign	Het
Nuggc	A	G	14: 65,848,621 (GRCm39)	H174R	possibly damaging	Het
Or14c40	G	A	7: 86,313,163 (GRCm39)	V98M	probably benign	Het
Or1e29	A	T	11: 73,667,664 (GRCm39)	M163K	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Pik3ca	C	T	3: 32,494,084 (GRCm39)	R349*	probably null	Het
Rfxank	T	C	8: 70,588,862 (GRCm39)	D89G	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Serpina1a	A	G	12: 103,820,934 (GRCm39)	L348P	probably damaging	Het
Shank1	A	G	7: 43,991,898 (GRCm39)	Y701C	unknown	Het
Six4	G	T	12: 73,159,314 (GRCm39)	D207E	possibly damaging	Het
Slco3a1	G	T	7: 74,204,276 (GRCm39)	D21E	probably benign	Het
Sox6	C	T	7: 115,143,704 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,007,418 (GRCm39)	N216S	probably damaging	Het
Stard13	T	C	5: 150,986,334 (GRCm39)	N392S	possibly damaging	Het
Tax1bp1	T	C	6: 52,704,263 (GRCm39)	V81A	possibly damaging	Het
Trim29	G	T	9: 43,222,419 (GRCm39)	V83L	probably damaging	Het
Vmn1r90	C	T	7: 14,295,495 (GRCm39)	W201*	probably null	Het
Wdr31	T	A	4: 62,378,626 (GRCm39)	N7I	probably damaging	Het
Ypel4	A	G	2: 84,567,151 (GRCm39)		probably benign	Het
Zfp579	A	G	7: 4,996,072 (GRCm39)		probably benign	Het
Zfp974	C	A	7: 27,609,657 (GRCm39)	K689N	possibly damaging	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
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
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	58,781,605 (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
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'- AGGGAAGACTTGTGATAAAACGTTT -3'
(R):5'- TTACCGCAAGTCACACCTTG -3'

Sequencing Primer
(F):5'- TTCCTACATTCTTGACATTCAAATCG -3'
(R):5'- TGGGAAAACTTTTCACCGGC -3'

Posted On

2015-06-20