Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00705:Zfp638'

14932

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

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

IGL00705

Quality Score

Status

Chromosome

Chromosomal Location

83844050-83963855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83954112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1406 (T1406A)

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

probably benign
Transcript: ENSMUST00000032088
AA Change: T1406A

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: T1406A

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

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

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

probably damaging
Transcript: ENSMUST00000204751
AA Change: T1406A

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

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: T1406A

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,359,588 (GRCm39)	H257Q	probably damaging	Het
Arap2	A	T	5: 62,835,366 (GRCm39)	H725Q	probably damaging	Het
Asnsd1	A	T	1: 53,387,610 (GRCm39)	C6S	probably damaging	Het
Bptf	T	C	11: 106,986,534 (GRCm39)		probably benign	Het
Cep112	C	A	11: 108,362,859 (GRCm39)	T193K	probably benign	Het
Fgfr3	A	G	5: 33,892,484 (GRCm39)	I720V	possibly damaging	Het
Grid1	T	A	14: 35,167,844 (GRCm39)	I456N	possibly damaging	Het
Limch1	A	T	5: 67,150,496 (GRCm39)	R169*	probably null	Het
Mroh9	A	G	1: 162,907,072 (GRCm39)	S17P	probably damaging	Het
Mtpap	A	C	18: 4,379,670 (GRCm39)	N87H	probably damaging	Het
Nudt17	A	G	3: 96,614,516 (GRCm39)		probably null	Het
Obox6	A	T	7: 15,567,662 (GRCm39)	S262T	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rufy3	A	G	5: 88,769,209 (GRCm39)	I226V	probably damaging	Het
Tex15	C	A	8: 34,071,620 (GRCm39)	P2389Q	probably damaging	Het
Urb2	T	A	8: 124,763,376 (GRCm39)	V1266D	probably benign	Het
Usp17ld	G	A	7: 102,899,645 (GRCm39)	T429I	probably benign	Het
Zfp110	A	G	7: 12,583,086 (GRCm39)	H578R	probably benign	Het
Zfp318	T	A	17: 46,723,398 (GRCm39)	S1800R	probably benign	Het

Other mutations in Zfp638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Zfp638	APN	6	83,956,700 (GRCm39)	missense	probably damaging	1.00
IGL00514:Zfp638	APN	6	83,933,680 (GRCm39)	missense	probably damaging	1.00
IGL00785:Zfp638	APN	6	83,906,146 (GRCm39)	missense	probably damaging	1.00
IGL01068:Zfp638	APN	6	83,911,976 (GRCm39)	missense	probably damaging	1.00
IGL01084:Zfp638	APN	6	83,921,780 (GRCm39)	missense	probably benign	0.01
IGL01570:Zfp638	APN	6	83,924,829 (GRCm39)	missense	probably damaging	1.00
IGL01758:Zfp638	APN	6	83,956,508 (GRCm39)	missense	probably damaging	0.96
IGL02345:Zfp638	APN	6	83,961,857 (GRCm39)	missense	probably damaging	1.00
IGL02939:Zfp638	APN	6	83,946,214 (GRCm39)	missense	probably damaging	0.98
IGL03007:Zfp638	APN	6	83,961,866 (GRCm39)	missense	probably damaging	1.00
IGL03118:Zfp638	APN	6	83,912,000 (GRCm39)	splice site	probably benign
IGL03135:Zfp638	APN	6	83,919,857 (GRCm39)	missense	probably damaging	1.00
IGL03264:Zfp638	APN	6	83,923,229 (GRCm39)	missense	probably benign	0.04
R0190:Zfp638	UTSW	6	83,905,946 (GRCm39)	missense	probably damaging	1.00
R0200:Zfp638	UTSW	6	83,944,336 (GRCm39)	missense	probably damaging	1.00
R0766:Zfp638	UTSW	6	83,906,023 (GRCm39)	missense	probably damaging	1.00
R0801:Zfp638	UTSW	6	83,949,220 (GRCm39)	unclassified	probably benign
R0938:Zfp638	UTSW	6	83,961,023 (GRCm39)	missense	probably benign	0.16
R1312:Zfp638	UTSW	6	83,906,023 (GRCm39)	missense	probably damaging	1.00
R1458:Zfp638	UTSW	6	83,921,638 (GRCm39)	missense	probably damaging	1.00
R1584:Zfp638	UTSW	6	83,955,047 (GRCm39)	splice site	probably null
R1634:Zfp638	UTSW	6	83,956,894 (GRCm39)	splice site	probably null
R1651:Zfp638	UTSW	6	83,931,719 (GRCm39)	missense	probably benign	0.00
R2079:Zfp638	UTSW	6	83,930,371 (GRCm39)	critical splice donor site	probably null
R2134:Zfp638	UTSW	6	83,905,964 (GRCm39)	missense	probably damaging	1.00
R2142:Zfp638	UTSW	6	83,963,578 (GRCm39)	missense	probably damaging	1.00
R2201:Zfp638	UTSW	6	83,906,500 (GRCm39)	missense	probably damaging	1.00
R2422:Zfp638	UTSW	6	83,943,421 (GRCm39)	splice site	probably benign
R4353:Zfp638	UTSW	6	83,961,041 (GRCm39)	missense	probably damaging	0.97
R4681:Zfp638	UTSW	6	83,958,719 (GRCm39)	missense	possibly damaging	0.50
R4716:Zfp638	UTSW	6	83,956,544 (GRCm39)	nonsense	probably null
R4807:Zfp638	UTSW	6	83,920,040 (GRCm39)	missense	probably damaging	1.00
R4850:Zfp638	UTSW	6	83,956,457 (GRCm39)	missense	possibly damaging	0.92
R5079:Zfp638	UTSW	6	83,906,438 (GRCm39)	missense	probably benign	0.03
R5236:Zfp638	UTSW	6	83,953,557 (GRCm39)	nonsense	probably null
R5323:Zfp638	UTSW	6	83,939,076 (GRCm39)	missense	probably damaging	0.96
R5426:Zfp638	UTSW	6	83,953,396 (GRCm39)	missense	probably damaging	1.00
R5557:Zfp638	UTSW	6	83,944,345 (GRCm39)	missense	probably damaging	1.00
R5570:Zfp638	UTSW	6	83,956,170 (GRCm39)	missense	probably damaging	1.00
R5614:Zfp638	UTSW	6	83,906,623 (GRCm39)	missense	probably damaging	1.00
R5662:Zfp638	UTSW	6	83,920,111 (GRCm39)	missense	probably damaging	0.97
R5685:Zfp638	UTSW	6	83,906,969 (GRCm39)	missense	probably damaging	1.00
R5689:Zfp638	UTSW	6	83,906,054 (GRCm39)	missense	probably damaging	1.00
R5783:Zfp638	UTSW	6	83,921,829 (GRCm39)	missense	possibly damaging	0.92
R5856:Zfp638	UTSW	6	83,954,047 (GRCm39)	missense	probably damaging	1.00
R6310:Zfp638	UTSW	6	83,844,212 (GRCm39)	missense	possibly damaging	0.90
R6477:Zfp638	UTSW	6	83,942,560 (GRCm39)	missense	probably damaging	1.00
R6557:Zfp638	UTSW	6	83,907,092 (GRCm39)	missense	probably damaging	1.00
R7084:Zfp638	UTSW	6	83,930,108 (GRCm39)	missense	possibly damaging	0.50
R7101:Zfp638	UTSW	6	83,931,708 (GRCm39)	missense	probably benign	0.00
R7141:Zfp638	UTSW	6	83,844,181 (GRCm39)	missense	unknown
R7368:Zfp638	UTSW	6	83,906,437 (GRCm39)	missense	possibly damaging	0.60
R7402:Zfp638	UTSW	6	83,905,670 (GRCm39)	missense	possibly damaging	0.92
R7455:Zfp638	UTSW	6	83,907,127 (GRCm39)	missense	probably damaging	1.00
R7762:Zfp638	UTSW	6	83,953,254 (GRCm39)	missense	probably damaging	1.00
R7773:Zfp638	UTSW	6	83,956,196 (GRCm39)	missense	probably damaging	1.00
R8090:Zfp638	UTSW	6	83,906,801 (GRCm39)	missense	probably damaging	0.99
R8154:Zfp638	UTSW	6	83,954,391 (GRCm39)	missense	probably damaging	1.00
R8161:Zfp638	UTSW	6	83,906,713 (GRCm39)	missense	possibly damaging	0.85
R8327:Zfp638	UTSW	6	83,905,679 (GRCm39)	missense	probably damaging	0.99
R8384:Zfp638	UTSW	6	83,956,747 (GRCm39)	missense	probably benign	0.28
R8703:Zfp638	UTSW	6	83,954,143 (GRCm39)	missense	probably damaging	0.96
R8738:Zfp638	UTSW	6	83,931,745 (GRCm39)	critical splice donor site	probably null
R8865:Zfp638	UTSW	6	83,954,035 (GRCm39)	missense	possibly damaging	0.91
R8874:Zfp638	UTSW	6	83,946,135 (GRCm39)	missense	probably damaging	1.00
R9080:Zfp638	UTSW	6	83,844,155 (GRCm39)	missense	unknown
R9113:Zfp638	UTSW	6	83,953,894 (GRCm39)	missense	probably damaging	0.96
R9574:Zfp638	UTSW	6	83,956,680 (GRCm39)	missense	probably damaging	1.00
R9661:Zfp638	UTSW	6	83,923,320 (GRCm39)	missense	probably damaging	0.99
R9722:Zfp638	UTSW	6	83,923,301 (GRCm39)	missense	probably damaging	1.00
R9745:Zfp638	UTSW	6	83,921,795 (GRCm39)	missense	probably benign	0.27
Z1088:Zfp638	UTSW	6	83,921,793 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06