Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Zfp638'

365924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.904) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

83867109-83989550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83969232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1081 (D1081G)

Ref Sequence

ENSEMBL: ENSMUSP00000144939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032088] [ENSMUST00000113835] [ENSMUST00000113836] [ENSMUST00000203324] [ENSMUST00000203455] [ENSMUST00000203891] [ENSMUST00000204751]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032088
AA Change: D1081G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: D1081G

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 damaging
Transcript: ENSMUST00000113835
AA Change: D1058G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: D1058G

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

possibly damaging
Transcript: ENSMUST00000113836
AA Change: D1081G

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: D1081G

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

probably damaging
Transcript: ENSMUST00000203324
AA Change: D1081G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: D1081G

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

probably benign
Transcript: ENSMUST00000203455

SMART Domains

Protein: ENSMUSP00000145047
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_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
internal_repeat_1	819	891	3.29e-10	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203481

Predicted Effect

probably damaging
Transcript: ENSMUST00000203891
AA Change: D1081G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: D1081G

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: ENSMUST00000204120

Predicted Effect

probably damaging
Transcript: ENSMUST00000204751
AA Change: D1081G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: D1081G

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: ENSMUST00000204953

Predicted Effect

probably benign
Transcript: ENSMUST00000205166

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	C	5: 9,461,478	Y947H	probably damaging	Het
Atp6ap1	A	G	X: 74,297,318	D47G	probably benign	Het
Atr	T	C	9: 95,865,261	F199L	probably benign	Het
Bivm	C	A	1: 44,142,960	H443N	probably benign	Het
Btnl2	A	T	17: 34,361,069	H192L	probably benign	Het
Ccdc178	A	T	18: 22,120,718	C155S	probably benign	Het
Celsr1	C	A	15: 85,901,472	V2934L	probably benign	Het
Celsr3	T	C	9: 108,849,453	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,204,279	E585V	possibly damaging	Het
Eps15l1	A	T	8: 72,384,762		probably benign	Het
Erlin1	G	T	19: 44,063,052	T70K	probably damaging	Het
Ext2	A	T	2: 93,704,619		probably null	Het
Fam124a	G	A	14: 62,555,919		probably null	Het
Fam53a	T	C	5: 33,607,759	D201G	probably damaging	Het
Fgf14	C	T	14: 124,132,479	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,564,623	T323S	probably benign	Het
Gemin5	A	T	11: 58,156,730	N339K	probably damaging	Het
Golga4	A	C	9: 118,534,632	K233T	probably damaging	Het
Golga4	A	G	9: 118,535,454	E286G	probably benign	Het
Gosr1	A	G	11: 76,750,906		probably benign	Het
Haus8	A	G	8: 71,255,717		probably benign	Het
Itgb3bp	T	C	4: 99,802,136	T49A	probably null	Het
Ldlrad4	A	G	18: 68,254,514	D299G	probably damaging	Het
Lpo	A	G	11: 87,815,178	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,272,149	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,177,279	T2566P	probably benign	Het
Nalcn	T	C	14: 123,298,872	E1255G	probably null	Het
Nop56	A	T	2: 130,278,197	K157N	probably damaging	Het
Olfr802	A	T	10: 129,681,988	Y250*	probably null	Het
Olfr979	C	T	9: 40,000,898	E110K	probably benign	Het
Pcdh15	A	G	10: 74,504,816		probably benign	Het
Pi4ka	T	C	16: 17,354,210	H557R	probably damaging	Het
Plekha4	C	T	7: 45,532,363	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,298,407		probably benign	Het
Rgmb	C	T	17: 15,807,493	M321I	probably benign	Het
Rnf31	T	C	14: 55,595,674	S363P	probably benign	Het
Sap18b	T	A	8: 95,825,701	M113K	probably benign	Het
Scara3	T	A	14: 65,931,656	M171L	probably benign	Het
Slc9a2	T	G	1: 40,742,703	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,677,930	W180*	probably null	Het
Stat6	T	A	10: 127,646,940	M10K	probably benign	Het
Sun1	T	C	5: 139,235,488		probably benign	Het
Tead2	T	C	7: 45,220,434		probably benign	Het
Tjp1	T	G	7: 65,314,890	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,370,550	S295P	probably damaging	Het
Ttn	G	A	2: 76,782,412	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,881,183		probably null	Het
Vmn2r108	T	A	17: 20,471,283	H326L	probably benign	Het
Xdh	A	G	17: 73,943,845		probably null	Het
Zfp385b	A	G	2: 77,412,059	S439P	probably benign	Het
Zfp597	G	A	16: 3,865,941	S317L	probably benign	Het
Zfp93	C	T	7: 24,275,084	H165Y	possibly damaging	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
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
R1634:Zfp638	UTSW	6	83979912	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
R8703:Zfp638	UTSW	6	83977161	missense	probably damaging	0.96
R8738:Zfp638	UTSW	6	83954763	critical splice donor site	probably null
R8865:Zfp638	UTSW	6	83977053	missense	possibly damaging	0.91
R8874:Zfp638	UTSW	6	83969153	missense	probably damaging	1.00
R9080:Zfp638	UTSW	6	83867173	missense	unknown
R9113:Zfp638	UTSW	6	83976912	missense	probably damaging	0.96
R9574:Zfp638	UTSW	6	83979698	missense	probably damaging	1.00
R9661:Zfp638	UTSW	6	83946338	missense	probably damaging	0.99
R9722:Zfp638	UTSW	6	83946319	missense	probably damaging	1.00
R9745:Zfp638	UTSW	6	83944813	missense	probably benign	0.27
Z1088:Zfp638	UTSW	6	83944811	missense	probably damaging	1.00

Posted On

2015-12-18