Mutagenetix > Incidental Mutations

Incidental Mutation 'R1634:Zfp638'

172977

Institutional Source

Beutler Lab

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

MMRRC Submission

039671-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83867109-83989550 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 83979912 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032088] [ENSMUST00000032088] [ENSMUST00000113835] [ENSMUST00000113836] [ENSMUST00000203324] [ENSMUST00000203891] [ENSMUST00000204751]

Predicted Effect

probably null
Transcript: ENSMUST00000032088

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	5.93e0	SMART
ZnF_C2H2	424	448	1.36e1	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	2.04e-6	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	9.04e-3	SMART
Blast:RRM_2	1007	1075	4e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
low complexity region	1399	1412	N/A	INTRINSIC
low complexity region	1512	1526	N/A	INTRINSIC
low complexity region	1761	1771	N/A	INTRINSIC
ZnF_U1	1873	1907	2.84e-8	SMART
ZnF_C2H2	1876	1900	2.14e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000032088

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	5.93e0	SMART
ZnF_C2H2	424	448	1.36e1	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	2.04e-6	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	9.04e-3	SMART
Blast:RRM_2	1007	1075	4e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
low complexity region	1399	1412	N/A	INTRINSIC
low complexity region	1512	1526	N/A	INTRINSIC
low complexity region	1761	1771	N/A	INTRINSIC
ZnF_U1	1873	1907	2.84e-8	SMART
ZnF_C2H2	1876	1900	2.14e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113835

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	5.93e0	SMART
ZnF_C2H2	424	448	1.36e1	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	2.04e-6	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	880	949	9.04e-3	SMART
Blast:RRM_2	984	1052	2e-25	BLAST
low complexity region	1095	1109	N/A	INTRINSIC
ZnF_U1	1218	1252	2.84e-8	SMART
ZnF_C2H2	1221	1245	2.14e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113836

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	5.93e0	SMART
ZnF_C2H2	424	448	1.36e1	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	2.04e-6	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	9.04e-3	SMART
Blast:RRM_2	1007	1075	2e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
ZnF_U1	1222	1256	2.84e-8	SMART
ZnF_C2H2	1225	1249	2.14e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203056

Predicted Effect

probably benign
Transcript: ENSMUST00000203324

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	3.5e-2	SMART
ZnF_C2H2	424	448	5.9e-2	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	9.1e-9	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	3.9e-5	SMART
Blast:RRM_2	1007	1075	2e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
ZnF_U1	1220	1254	1.7e-10	SMART
ZnF_C2H2	1223	1247	8.9e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203806

Predicted Effect

probably benign
Transcript: ENSMUST00000203891

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	3.5e-2	SMART
ZnF_C2H2	424	448	5.9e-2	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	9.1e-9	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	3.9e-5	SMART
Blast:RRM_2	1007	1075	2e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
ZnF_U1	1186	1220	1.7e-10	SMART
ZnF_C2H2	1189	1213	8.9e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204378

Predicted Effect

probably null
Transcript: ENSMUST00000204751

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
ZnF_U1	421	455	5.93e0	SMART
ZnF_C2H2	424	448	1.36e1	SMART
low complexity region	482	523	N/A	INTRINSIC
low complexity region	531	555	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
RRM	677	747	2.04e-6	SMART
low complexity region	749	763	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC
RRM	903	972	9.04e-3	SMART
Blast:RRM_2	1007	1075	4e-25	BLAST
low complexity region	1118	1132	N/A	INTRINSIC
low complexity region	1399	1412	N/A	INTRINSIC
low complexity region	1512	1526	N/A	INTRINSIC
low complexity region	1761	1771	N/A	INTRINSIC
ZnF_U1	1873	1907	2.84e-8	SMART
ZnF_C2H2	1876	1900	2.14e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204823

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,057,731	F222I	probably damaging	Het
Adam34	A	T	8: 43,652,090	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,965,693	V293A	probably damaging	Het
AI182371	A	T	2: 35,086,485	Y223N	probably damaging	Het
Armc4	A	G	18: 7,286,688	L181P	probably damaging	Het
Asmt	C	A	X: 170,675,829	F181L	probably damaging	Het
Axin1	T	A	17: 26,187,991	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,404,706	V660E	probably damaging	Het
Cep152	C	T	2: 125,583,889	R852H	probably benign	Het
Cpne4	T	C	9: 104,989,579	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,657	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,221,211	I767T	probably damaging	Het
Dgki	A	G	6: 36,915,490	M851T	probably benign	Het
Dnah8	T	C	17: 30,713,098		probably null	Het
Dscaml1	A	G	9: 45,672,749	E504G	probably damaging	Het
Dzank1	G	A	2: 144,481,669	A618V	probably benign	Het
Fam189b	A	C	3: 89,188,094	Y511S	probably damaging	Het
Fat2	T	A	11: 55,267,684	S3403C	probably damaging	Het
Fat2	C	T	11: 55,284,719	V1723I	probably benign	Het
Flt1	A	T	5: 147,676,430	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585		probably null	Het
Gzmc	T	C	14: 56,232,280	I188V	possibly damaging	Het
Herc1	T	C	9: 66,473,538	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,320,273		probably benign	Het
Idh3b	C	T	2: 130,281,745	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529	S1249P	probably benign	Het
Leo1	T	C	9: 75,466,260	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,410,177	W339*	probably null	Het
Map3k5	T	C	10: 20,136,911	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,614,355	D631G	probably damaging	Het
Mink1	T	C	11: 70,608,880	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984	V571E	possibly damaging	Het
Nell1	A	G	7: 50,848,558	D574G	possibly damaging	Het
Obscn	T	C	11: 59,076,896	Y392C	probably damaging	Het
Olfml2a	A	T	2: 38,960,219	Y649F	probably benign	Het
Olfr1295	T	C	2: 111,565,346	M33V	probably benign	Het
Olfr161	A	G	16: 3,593,209	D271G	probably benign	Het
Prkcg	A	G	7: 3,323,470	D484G	probably damaging	Het
Rab27a	T	C	9: 73,075,569		probably null	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rgl1	C	T	1: 152,524,772	R624H	probably damaging	Het
Ric8b	G	A	10: 84,970,748	G159D	probably damaging	Het
Sbno2	C	A	10: 80,060,634	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,488,017	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,318,873		probably benign	Het
Snx14	T	C	9: 88,385,739	I714M	probably benign	Het
Snx14	T	C	9: 88,407,490		probably benign	Het
Sphk2	T	A	7: 45,711,540	T347S	probably benign	Het
Spns1	C	T	7: 126,371,171		probably benign	Het
Susd2	A	G	10: 75,637,555	V675A	probably benign	Het
Sytl2	A	T	7: 90,395,182	D566V	probably damaging	Het
Tcf25	T	A	8: 123,397,091	I464N	possibly damaging	Het
Tex261	A	T	6: 83,775,022	I49N	possibly damaging	Het
Tjp1	A	G	7: 65,302,952	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,834,566	S216P	probably damaging	Het
Topaz1	C	T	9: 122,780,675		probably benign	Het
Tra2a	C	T	6: 49,250,957		probably benign	Het
Ttn	A	G	2: 76,722,782	F22794S	possibly damaging	Het
Uox	G	A	3: 146,612,383	W93*	probably null	Het
Zan	A	T	5: 137,412,790		probably benign	Het
Zfp106	G	A	2: 120,533,677	R750*	probably null	Het

Other mutations in Zfp638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Zfp638	APN	6	83979718	missense	probably damaging	1.00
IGL00514:Zfp638	APN	6	83956698	missense	probably damaging	1.00
IGL00705:Zfp638	APN	6	83977130	missense	probably damaging	1.00
IGL00785:Zfp638	APN	6	83929164	missense	probably damaging	1.00
IGL01068:Zfp638	APN	6	83934994	missense	probably damaging	1.00
IGL01084:Zfp638	APN	6	83944798	missense	probably benign	0.01
IGL01570:Zfp638	APN	6	83947847	missense	probably damaging	1.00
IGL01758:Zfp638	APN	6	83979526	missense	probably damaging	0.96
IGL02345:Zfp638	APN	6	83984875	missense	probably damaging	1.00
IGL02939:Zfp638	APN	6	83969232	missense	probably damaging	0.98
IGL03007:Zfp638	APN	6	83984884	missense	probably damaging	1.00
IGL03118:Zfp638	APN	6	83935018	splice site	probably benign
IGL03135:Zfp638	APN	6	83942875	missense	probably damaging	1.00
IGL03264:Zfp638	APN	6	83946247	missense	probably benign	0.04
R0190:Zfp638	UTSW	6	83928964	missense	probably damaging	1.00
R0200:Zfp638	UTSW	6	83967354	missense	probably damaging	1.00
R0766:Zfp638	UTSW	6	83929041	missense	probably damaging	1.00
R0801:Zfp638	UTSW	6	83972238	unclassified	probably benign
R0938:Zfp638	UTSW	6	83984041	missense	probably benign	0.16
R1312:Zfp638	UTSW	6	83929041	missense	probably damaging	1.00
R1458:Zfp638	UTSW	6	83944656	missense	probably damaging	1.00
R1584:Zfp638	UTSW	6	83978065	splice site	probably null
R1651:Zfp638	UTSW	6	83954737	missense	probably benign	0.00
R2079:Zfp638	UTSW	6	83953389	critical splice donor site	probably null
R2134:Zfp638	UTSW	6	83928982	missense	probably damaging	1.00
R2142:Zfp638	UTSW	6	83986596	missense	probably damaging	1.00
R2201:Zfp638	UTSW	6	83929518	missense	probably damaging	1.00
R2422:Zfp638	UTSW	6	83966439	splice site	probably benign
R4353:Zfp638	UTSW	6	83984059	missense	probably damaging	0.97
R4681:Zfp638	UTSW	6	83981737	missense	possibly damaging	0.50
R4716:Zfp638	UTSW	6	83979562	nonsense	probably null
R4807:Zfp638	UTSW	6	83943058	missense	probably damaging	1.00
R4850:Zfp638	UTSW	6	83979475	missense	possibly damaging	0.92
R5079:Zfp638	UTSW	6	83929456	missense	probably benign	0.03
R5236:Zfp638	UTSW	6	83976575	nonsense	probably null
R5323:Zfp638	UTSW	6	83962094	missense	probably damaging	0.96
R5426:Zfp638	UTSW	6	83976414	missense	probably damaging	1.00
R5557:Zfp638	UTSW	6	83967363	missense	probably damaging	1.00
R5570:Zfp638	UTSW	6	83979188	missense	probably damaging	1.00
R5614:Zfp638	UTSW	6	83929641	missense	probably damaging	1.00
R5662:Zfp638	UTSW	6	83943129	missense	probably damaging	0.97
R5685:Zfp638	UTSW	6	83929987	missense	probably damaging	1.00
R5689:Zfp638	UTSW	6	83929072	missense	probably damaging	1.00
R5783:Zfp638	UTSW	6	83944847	missense	possibly damaging	0.92
R5856:Zfp638	UTSW	6	83977065	missense	probably damaging	1.00
R6310:Zfp638	UTSW	6	83867230	missense	possibly damaging	0.90
R6477:Zfp638	UTSW	6	83965578	missense	probably damaging	1.00
R6557:Zfp638	UTSW	6	83930110	missense	probably damaging	1.00
R7084:Zfp638	UTSW	6	83953126	missense	possibly damaging	0.50
R7101:Zfp638	UTSW	6	83954726	missense	probably benign	0.00
R7141:Zfp638	UTSW	6	83867199	missense	unknown
R7368:Zfp638	UTSW	6	83929455	missense	possibly damaging	0.60
R7402:Zfp638	UTSW	6	83928688	missense	possibly damaging	0.92
R7455:Zfp638	UTSW	6	83930145	missense	probably damaging	1.00
R7762:Zfp638	UTSW	6	83976272	missense	probably damaging	1.00
R7773:Zfp638	UTSW	6	83979214	missense	probably damaging	1.00
R8090:Zfp638	UTSW	6	83929819	missense	probably damaging	0.99
R8154:Zfp638	UTSW	6	83977409	missense	probably damaging	1.00
R8161:Zfp638	UTSW	6	83929731	missense	possibly damaging	0.85
R8327:Zfp638	UTSW	6	83928697	missense	probably damaging	0.99
R8384:Zfp638	UTSW	6	83979765	missense	probably benign	0.28
Z1088:Zfp638	UTSW	6	83944811	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCCCAGATGCCTGAAGACCC -3'
(R):5'- GTGCAACCAACACCTTGTTTCTGTG -3'

Sequencing Primer
(F):5'- CAGGATGACAGCAGTGATTTTC -3'
(R):5'- TTCCTACTGTGGCACTGTGT -3'

Posted On

2014-04-24