Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Zfp638'

236362

Institutional Source

Beutler Lab

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83867109-83989550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83986596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1918 (N1918K)

Ref Sequence

ENSEMBL: ENSMUSP00000144989 (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: N1952K

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: N1952K

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 benign
Transcript: ENSMUST00000113835
AA Change: N1263K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: N1263K

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

unknown
Transcript: ENSMUST00000113836
AA Change: N1267K

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: N1267K

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: N1265K

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: N1265K

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: N1231K

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: N1231K

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 damaging
Transcript: ENSMUST00000204751
AA Change: N1918K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: N1918K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,616,675		probably null	Het
Adgrb3	G	T	1: 25,068,209	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Angpt2	T	C	8: 18,714,140	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,082,936	K236*	probably null	Het
Baz1b	G	A	5: 135,217,275	R526H	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Btnl9	G	T	11: 49,170,626		probably null	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cdh8	C	A	8: 99,111,693	C505F	probably damaging	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Ces1c	T	A	8: 93,130,840	I38F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Col25a1	A	G	3: 130,570,316	H546R	probably damaging	Het
Crot	A	T	5: 8,987,780	Y179N	possibly damaging	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Ddb1	T	C	19: 10,619,126		probably null	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Elf2	A	G	3: 51,256,440	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fbn1	T	G	2: 125,412,708	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,505,865	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gdf2	A	G	14: 33,945,241	T307A	probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm266	C	T	12: 111,485,181	R197K	possibly damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gns	G	A	10: 121,392,778	R498H	probably damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Grk6	T	C	13: 55,454,364	W335R	probably damaging	Het
Helz2	T	C	2: 181,231,380	E2379G	probably benign	Het
Hmx2	A	T	7: 131,555,859	D234V	probably damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTTCT	1: 135,386,282		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Itpkc	A	G	7: 27,219,650	V397A	possibly damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kdr	T	C	5: 75,968,423	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,934,998	N338S	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Micall1	T	C	15: 79,130,795	Y751H	probably damaging	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myh2	A	G	11: 67,189,332	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nrbp1	A	G	5: 31,247,929	E287G	possibly damaging	Het
Nup188	T	A	2: 30,336,706	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1012	C	T	2: 85,759,677	R233H	probably benign	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1298	C	A	2: 111,645,221	V259L	probably benign	Het
Olfr1383	A	G	11: 49,523,839	I39V	probably benign	Het
Olfr642	C	T	7: 104,050,300	G18D	probably damaging	Het
Olfr786	A	G	10: 129,437,747	K312E	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Panx3	G	C	9: 37,666,673	S87W	probably damaging	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,422,123	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,559	G605V	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Pkhd1	T	A	1: 20,523,895	K1331N	probably benign	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,044		probably null	Het
Prb1	T	A	6: 132,207,203	Q489L	unknown	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psme4	A	G	11: 30,820,998	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,337,228		probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rit2	A	G	18: 31,153,713	F140L	probably benign	Het
Rorc	G	A	3: 94,389,526	R271Q	probably benign	Het
Sall3	A	T	18: 80,969,831	M1130K	probably damaging	Het
Sart3	T	C	5: 113,764,093	E141G	probably damaging	Het
Serpina9	T	C	12: 104,008,309	D195G	probably benign	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tarsl2	A	T	7: 65,658,897	I272L	probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,826,899	H294Y	probably benign	Het
Tigd4	A	G	3: 84,594,363	T196A	possibly damaging	Het
Treh	G	A	9: 44,681,141	M54I	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,812,048	D207G	probably damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,479,726	I4T	probably damaging	Het
Zfp65	G	T	13: 67,708,192	H333N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCCCAAGCATAATGTGTGGC -3'
(R):5'- ATCAGTTTCTCTACATCAAGGGC -3'

Sequencing Primer
(F):5'- CAAGCATAATGTGTGGCATACC -3'
(R):5'- GTTTCTCTACATCAAGGGCAATCAG -3'

Posted On

2014-10-01