Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Zfp638'

675862

Institutional Source

Beutler Lab

Gene Symbol

Zfp638

Ensembl Gene

ENSMUSG00000030016

Gene Name

zinc finger protein 638

Synonyms

Np220, Zfml

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83867109-83989550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83977053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1380 (V1380A)

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

SMART Domains

Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: V1380A

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

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

possibly damaging
Transcript: ENSMUST00000204751
AA Change: V1380A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: V1380A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	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
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
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'- CCAAGCACCAGGAAGTTACATTG -3'
(R):5'- GCTTTCTGCCAAGCCTGATC -3'

Sequencing Primer
(F):5'- TGTTAAGGAGACCAGAATGGATTTAC -3'
(R):5'- GCCAAGCCTGATCTGGTATTTTTAAG -3'

Posted On

2021-07-15