Mutagenetix > Incidental Mutation

Incidental Mutation 'R3903:Zfp39'

309270

Institutional Source

Beutler Lab

Gene Symbol

Zfp39

Ensembl Gene

ENSMUSG00000037001

Gene Name

zinc finger protein 39

Synonyms

Zfp-39, CTfin33

MMRRC Submission

040907-MU

Accession Numbers

Essential gene?

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

Stock #

R3903 (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 58781001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 587 (Y587C)

Ref Sequence

ENSEMBL: ENSMUSP00000099764 (fasta)

Gene Model

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

AlphaFold

Q02525

Predicted Effect

probably benign
Transcript: ENSMUST00000102703
AA Change: Y587C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099764
Gene: ENSMUSG00000037001
AA Change: Y587C

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Ap3m1	T	C	14: 21,086,732 (GRCm39)	Y185C	probably null	Het
Calcrl	T	A	2: 84,198,986 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,156,152 (GRCm39)	V573I	possibly damaging	Het
Cdh6	T	C	15: 13,042,661 (GRCm39)	K499R	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Cyp4f40	C	A	17: 32,878,598 (GRCm39)	R47S	possibly damaging	Het
Eif4a2	AG	A	16: 22,929,390 (GRCm39)		probably null	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Gm8180	T	A	14: 44,021,092 (GRCm39)	R39W	probably null	Het
Golm1	T	C	13: 59,786,154 (GRCm39)	Q346R	probably damaging	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Hormad2	A	G	11: 4,377,237 (GRCm39)		probably benign	Het
Hyal1	T	C	9: 107,456,171 (GRCm39)		probably null	Het
Kif12	A	G	4: 63,086,213 (GRCm39)	V378A	possibly damaging	Het
Lrrk2	G	A	15: 91,631,904 (GRCm39)	S1276N	probably damaging	Het
Lrrk2	A	T	15: 91,631,903 (GRCm39)	S1276C	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or4f53	A	T	2: 111,088,114 (GRCm39)	Y218F	probably damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Or8c20	C	T	9: 38,260,954 (GRCm39)	Q186*	probably null	Het
Pabpc6	T	C	17: 9,888,083 (GRCm39)	E156G	probably benign	Het
Rorb	A	G	19: 18,939,463 (GRCm39)	Y155H	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Scn1a	A	G	2: 66,148,476 (GRCm39)	I3T	probably benign	Het
Serpinb9	T	C	13: 33,194,793 (GRCm39)	M183T	possibly damaging	Het
Wnk1	A	G	6: 119,926,012 (GRCm39)	S1151P	probably damaging	Het
Xirp2	C	T	2: 67,338,380 (GRCm39)	T207I	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
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
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'- TGAAAAGCCTTCTTGCATAGC -3'
(R):5'- TTACCGCAAGTCACACCTTG -3'

Sequencing Primer
(F):5'- TGCATAGCTTACACTCATAGGGC -3'
(R):5'- CTACTGTAAGTCGGACCTGAATGTC -3'

Posted On

2015-04-17