Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Zfp638'

51247

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: 0.873) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

83844050-83963855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83911976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 453 (R453W)

Ref Sequence

ENSEMBL: ENSMUSP00000144989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032088] [ENSMUST00000113835] [ENSMUST00000113836] [ENSMUST00000203273] [ENSMUST00000203324] [ENSMUST00000203455] [ENSMUST00000204751] [ENSMUST00000204202] [ENSMUST00000203891]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032088
AA Change: R453W

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

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: R453W

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: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: R453W

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 damaging
Transcript: ENSMUST00000113836
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: R453W

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

silent
Transcript: ENSMUST00000203273

Predicted Effect

probably damaging
Transcript: ENSMUST00000203324
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: R453W

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 damaging
Transcript: ENSMUST00000203455
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145047
Gene: ENSMUSG00000030016
AA Change: R453W

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: ENSMUST00000203808

Predicted Effect

probably damaging
Transcript: ENSMUST00000204751
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: R453W

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: ENSMUST00000204202
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145170
Gene: ENSMUSG00000030016
AA Change: R453W

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	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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203891
AA Change: R453W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: R453W

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: ENSMUST00000204110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204580

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,153,599 (GRCm39)		probably benign	Het
Adgra1	A	G	7: 139,425,541 (GRCm39)	E18G	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,702,546 (GRCm39)	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,824,680 (GRCm39)	V853A	probably benign	Het
Bicral	T	C	17: 47,136,317 (GRCm39)	I298V	probably damaging	Het
Cad	A	G	5: 31,219,114 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,768,744 (GRCm39)	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,439,098 (GRCm39)	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,949,501 (GRCm39)	V604M	possibly damaging	Het
Ctcf	A	T	8: 106,408,117 (GRCm39)		probably benign	Het
Eif2ak2	A	G	17: 79,172,800 (GRCm39)	I295T	probably damaging	Het
Foxm1	G	A	6: 128,347,930 (GRCm39)	R284H	possibly damaging	Het
Gabra2	T	C	5: 71,119,415 (GRCm39)	I362M	probably benign	Het
Hivep1	C	A	13: 42,313,460 (GRCm39)	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,515,897 (GRCm39)	E268*	probably null	Het
Klk1b16	T	C	7: 43,790,102 (GRCm39)	L124P	probably damaging	Het
Ltf	A	T	9: 110,864,880 (GRCm39)		probably null	Het
Mpped2	T	A	2: 106,695,091 (GRCm39)	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,371,895 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,978,428 (GRCm39)	S429R	probably damaging	Het
Myl2	G	A	5: 122,244,767 (GRCm39)	V146I	probably benign	Het
Myo10	T	A	15: 25,739,395 (GRCm39)	I527N	possibly damaging	Het
Ncoa3	T	C	2: 165,894,715 (GRCm39)	S333P	probably damaging	Het
Or1j4	T	G	2: 36,740,282 (GRCm39)	S75A	probably damaging	Het
Or4k47	T	G	2: 111,451,685 (GRCm39)	T245P	probably damaging	Het
Oxct1	T	C	15: 4,083,246 (GRCm39)	F155S	probably damaging	Het
P4ha1	T	C	10: 59,175,157 (GRCm39)	V39A	probably damaging	Het
Padi6	G	T	4: 140,458,264 (GRCm39)	T514N	possibly damaging	Het
Pgm2	G	A	5: 64,265,139 (GRCm39)	V387I	probably damaging	Het
Ppt1	G	A	4: 122,737,800 (GRCm39)	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,662,827 (GRCm39)		probably benign	Het
Rpl26	T	C	11: 68,793,224 (GRCm39)	Y42H	probably benign	Het
Rundc1	A	G	11: 101,324,968 (GRCm39)	N558S	probably damaging	Het
Sema3e	T	G	5: 14,283,732 (GRCm39)		probably null	Het
Slc8a1	T	C	17: 81,696,371 (GRCm39)	I888V	probably benign	Het
Thsd7b	T	C	1: 129,523,883 (GRCm39)	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,085 (GRCm39)	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024 (GRCm39)	V119G	probably damaging	Het
Trpc1	T	C	9: 95,608,547 (GRCm39)	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763 (GRCm39)	F2094L	probably damaging	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
IGL00705:Zfp638	APN	6	83,954,112 (GRCm39)	missense	probably damaging	1.00
IGL00785:Zfp638	APN	6	83,906,146 (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

2013-06-21