Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Zfp638'

444128

Institutional Source

Beutler Lab

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R5662 (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 83943129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 570 (S570T)

Ref Sequence

ENSEMBL: ENSMUSP00000144939 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032088
AA Change: S570T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: S570T

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

possibly damaging
Transcript: ENSMUST00000113835
AA Change: S570T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: S570T

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: S570T

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: S570T

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 benign
Transcript: ENSMUST00000203273

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203324
AA Change: S570T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: S570T

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

possibly damaging
Transcript: ENSMUST00000203455
AA Change: S570T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145047
Gene: ENSMUSG00000030016
AA Change: S570T

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: ENSMUST00000203891
AA Change: S570T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: S570T

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

probably benign
Transcript: ENSMUST00000204202
AA Change: S570T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145170
Gene: ENSMUSG00000030016
AA Change: S570T

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: ENSMUST00000204751
AA Change: S570T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: S570T

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: ENSMUST00000205166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204713

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,100,107	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,694,800	N131K	possibly damaging	Het
Ankrd54	A	G	15: 79,062,614	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,793,488	I753T	probably benign	Het
Cers2	C	T	3: 95,320,984	R112C	probably damaging	Het
Col6a4	C	G	9: 106,068,001	R971S	probably damaging	Het
Ctsf	T	C	19: 4,856,578	S178P	probably damaging	Het
D430042O09Rik	A	G	7: 125,842,703	R595G	probably benign	Het
Dennd4c	C	T	4: 86,795,288	T492I	probably benign	Het
Dhx8	A	G	11: 101,766,758	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,737,333	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,372,195	I886F	probably damaging	Het
Eprs	T	G	1: 185,394,425	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,062		probably benign	Het
Galnt17	G	A	5: 131,086,006	R219C	probably damaging	Het
Gm10645	A	G	8: 83,165,857		probably benign	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Hydin	T	G	8: 110,580,709	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,055,407	V56E	probably damaging	Het
Igtp	A	G	11: 58,206,279	D92G	probably damaging	Het
Itga1	C	T	13: 114,986,171	V750I	probably benign	Het
Kif3c	T	A	12: 3,367,031	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,283,165	I356N	probably benign	Het
Lrrc34	T	C	3: 30,631,324	Y292C	probably benign	Het
Ly75	G	A	2: 60,352,381	T526M	probably damaging	Het
Mroh4	A	T	15: 74,625,428	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,249,300	N757D	probably benign	Het
Olfr24	A	G	9: 18,755,600	F12L	probably damaging	Het
Olfr384	T	C	11: 73,603,179	F200L	probably benign	Het
Olfr466	T	C	13: 65,152,253	F10L	possibly damaging	Het
Olfr811	T	C	10: 129,802,307	T73A	possibly damaging	Het
Paxbp1	G	A	16: 91,037,397	T167M	probably benign	Het
Pnpla7	A	G	2: 25,052,384	D1238G	probably damaging	Het
Pom121l2	T	C	13: 21,982,188	S210P	probably benign	Het
Ripor3	T	G	2: 167,993,556	N165T	probably benign	Het
Serpine3	T	G	14: 62,670,842	S106R	probably benign	Het
Slc25a11	G	A	11: 70,645,419	R158*	probably null	Het
Slc26a6	G	A	9: 108,859,339	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,083	K304E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,904,570	N267S	possibly damaging	Het
Spink6	C	A	18: 44,074,414	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,195,003	S811P	probably benign	Het
Ssc4d	A	G	5: 135,960,894	*587R	probably null	Het
Sult2a8	C	T	7: 14,427,840	R27H	probably benign	Het
Sun2	C	T	15: 79,738,868	A90T	probably benign	Het
Ubr7	T	C	12: 102,768,267	S267P	probably benign	Het
Wdr55	G	A	18: 36,760,395	V37M	possibly damaging	Het
Xdh	C	T	17: 73,941,115	G45S	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
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
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'- TCGAAGTCCAGTCCGTTATATCTATAG -3'
(R):5'- GAGCTACTTTAGAAGTCACTAAACC -3'

Sequencing Primer
(F):5'- TCTATAGACCAAGGAGTCGAAGTCC -3'
(R):5'- GCTGAAATTACACGTGTGTACCATCC -3'

Posted On

2016-11-09