Incidental Mutation 'R5685:Zfp638'
ID 443277
Institutional Source Beutler Lab
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 # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83844050-83963855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83906969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 378 (P378H)
Ref Sequence ENSEMBL: ENSMUSP00000144989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032088] [ENSMUST00000113835] [ENSMUST00000113836] [ENSMUST00000203273] [ENSMUST00000203324] [ENSMUST00000203455] [ENSMUST00000204202] [ENSMUST00000204751] [ENSMUST00000203891] [ENSMUST00000204415]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032088
AA Change: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000203324
AA Change: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145047
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: ENSMUST00000204202
AA Change: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145170
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: ENSMUST00000203891
AA Change: P378H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: P378H

DomainStartEndE-ValueType
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: ENSMUST00000204580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204110
Predicted Effect probably benign
Transcript: ENSMUST00000204415
SMART Domains Protein: ENSMUSP00000145513
Gene: ENSMUSG00000030016

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 112 131 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Other mutations in Zfp638
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- TTAGCCAGACAACGAGCCAG -3'
(R):5'- GCACTGAGCATCATTGTACAGC -3'

Sequencing Primer
(F):5'- GACAACGAGCCAGTCTCTG -3'
(R):5'- TCACCTTCAAATGACTACATTCTACG -3'
Posted On 2016-11-09