Mutagenetix > Incidental Mutations

Incidental Mutation 'R4353:Zfp638'

327408

Institutional Source

Beutler Lab

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

MMRRC Submission

040866-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R4353 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83867109-83989550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83984059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1206 (S1206P)

Ref Sequence

ENSEMBL: ENSMUSP00000109466 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000032088
AA Change: S1895P

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: S1895P

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: S1206P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: S1206P

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
AA Change: S1210P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: S1210P

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

unknown
Transcript: ENSMUST00000203324
AA Change: S1208P

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: S1208P

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

unknown
Transcript: ENSMUST00000203891
AA Change: S1174P

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: S1174P

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 benign
Transcript: ENSMUST00000204751
AA Change: S1861P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: S1861P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	T	C	13: 105,118,745	Y445H	probably benign	Het
5730559C18Rik	C	T	1: 136,226,208	V180I	probably damaging	Het
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Alpk2	C	T	18: 65,291,452	R1888H	possibly damaging	Het
Arhgap33	C	A	7: 30,524,136	V823L	possibly damaging	Het
Atp2b2	T	C	6: 113,765,784	I736V	probably benign	Het
Atp8a1	T	C	5: 67,769,108	T260A	probably damaging	Het
B4galnt3	T	C	6: 120,215,476	E433G	possibly damaging	Het
Bzw2	A	T	12: 36,123,979	F99I	probably damaging	Het
Cdh20	A	G	1: 104,979,089	D547G	probably damaging	Het
Col27a1	G	T	4: 63,225,631	A519S	probably benign	Het
Coq6	G	A	12: 84,368,149	G110D	probably damaging	Het
Cpb1	T	C	3: 20,262,544	T281A	probably benign	Het
Cttnbp2	T	C	6: 18,514,704	D11G	probably benign	Het
Cyp2c37	A	G	19: 40,000,545	Y316C	possibly damaging	Het
Dcdc2a	T	A	13: 25,056,491	I74N	probably damaging	Het
Dhx9	A	G	1: 153,471,789	L391P	probably damaging	Het
Dsc2	G	T	18: 20,050,068	L98I	probably damaging	Het
Dthd1	T	A	5: 62,842,867	S511T	probably benign	Het
Dusp2	A	G	2: 127,337,336	T204A	probably damaging	Het
Elovl5	T	C	9: 77,960,917	V37A	probably benign	Het
Etv1	A	G	12: 38,857,106	E369G	probably damaging	Het
Gem	G	A	4: 11,705,939	R9H	probably damaging	Het
Heg1	A	G	16: 33,710,477	T108A	probably benign	Het
Iqgap2	C	T	13: 95,671,396	V788M	probably damaging	Het
Kyat3	T	C	3: 142,731,293		probably null	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Mecom	C	A	3: 29,966,738	V452L	possibly damaging	Het
Meis2	A	G	2: 116,059,563	M146T	probably damaging	Het
Nrp2	A	G	1: 62,738,417	D127G	probably damaging	Het
Nup214	T	C	2: 31,977,917		probably null	Het
Olfr93	T	A	17: 37,151,337	I58F	probably damaging	Het
Pabpc4	C	T	4: 123,290,267	T191I	probably damaging	Het
Pcnx2	T	C	8: 125,762,851	H1668R	probably damaging	Het
Poln	C	T	5: 34,129,452	C124Y	probably benign	Het
Ppp2r2a	T	A	14: 67,028,937	I92L	probably damaging	Het
Prpmp5	T	G	6: 132,313,661	Y25S	unknown	Het
Ptch1	C	T	13: 63,534,329	R537H	probably damaging	Het
Rnf130	T	C	11: 50,087,440	V276A	possibly damaging	Het
Rnf31	AAC	A	14: 55,601,098		probably null	Het
Rnf38	A	T	4: 44,149,100	N82K	possibly damaging	Het
Scn7a	T	A	2: 66,676,436	M1370L	probably benign	Het
Sema4b	C	A	7: 80,215,651	L125I	probably damaging	Het
Slc12a7	C	T	13: 73,790,734	T210I	possibly damaging	Het
Sox8	A	C	17: 25,567,335	*465G	probably null	Het
Spg11	G	T	2: 122,113,194	T159K	possibly damaging	Het
Stk36	A	G	1: 74,632,807	R889G	possibly damaging	Het
Tmbim7	A	G	5: 3,661,796	S14G	probably benign	Het
Usp16	A	G	16: 87,470,354	N211D	probably damaging	Het
Vmn1r6	C	T	6: 57,002,692	A113V	possibly damaging	Het
Zc3h14	A	G	12: 98,763,960	N92D	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
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
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
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
Z1088:Zfp638	UTSW	6	83944811	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTGCTTCTTGGATCAAGGAATC -3'
(R):5'- AGCATATCCCAGCCTTCAAGAATG -3'

Sequencing Primer
(F):5'- TGGATCAAGGAATCATTAACTAAGGC -3'
(R):5'- CAAGCAAGGTTAACCTGC -3'

Posted On

2015-07-07