Incidental Mutation 'R4353:Zfp638'
ID 327408
Institutional Source Beutler Lab
Gene Symbol Zfp638
Ensembl Gene ENSMUSG00000030016
Gene Name zinc finger protein 638
Synonyms Np220, Zfml
MMRRC Submission 040866-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R4353 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83844050-83963855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83961041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1206 (S1206P)
Ref Sequence ENSEMBL: ENSMUSP00000109466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032088] [ENSMUST00000113835] [ENSMUST00000113836] [ENSMUST00000203324] [ENSMUST00000203891] [ENSMUST00000204751]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000032088
AA Change: S1895P
SMART Domains Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: S1895P

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: S1206P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: S1206P

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 benign
Transcript: ENSMUST00000113836
AA Change: S1210P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: S1210P

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 noncoding transcript
Transcript: ENSMUST00000203056
Predicted Effect unknown
Transcript: ENSMUST00000203324
AA Change: S1208P
SMART Domains Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: S1208P

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 noncoding transcript
Transcript: ENSMUST00000203806
Predicted Effect unknown
Transcript: ENSMUST00000203891
AA Change: S1174P
SMART Domains Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: S1174P

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 probably benign
Transcript: ENSMUST00000204751
AA Change: S1861P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: S1861P

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 noncoding transcript
Transcript: ENSMUST00000204378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204823
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpk2 C T 18: 65,424,523 (GRCm39) R1888H possibly damaging Het
Arhgap33 C A 7: 30,223,561 (GRCm39) V823L possibly damaging Het
Atp2b2 T C 6: 113,742,745 (GRCm39) I736V probably benign Het
Atp8a1 T C 5: 67,926,451 (GRCm39) T260A probably damaging Het
B4galnt3 T C 6: 120,192,437 (GRCm39) E433G possibly damaging Het
Bzw2 A T 12: 36,173,978 (GRCm39) F99I probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Coq6 G A 12: 84,414,923 (GRCm39) G110D probably damaging Het
Cpb1 T C 3: 20,316,708 (GRCm39) T281A probably benign Het
Cttnbp2 T C 6: 18,514,703 (GRCm39) D11G probably benign Het
Cyp2c37 A G 19: 39,988,989 (GRCm39) Y316C possibly damaging Het
Dcdc2a T A 13: 25,240,474 (GRCm39) I74N probably damaging Het
Dhx9 A G 1: 153,347,535 (GRCm39) L391P probably damaging Het
Dsc2 G T 18: 20,183,125 (GRCm39) L98I probably damaging Het
Dthd1 T A 5: 63,000,210 (GRCm39) S511T probably benign Het
Dusp2 A G 2: 127,179,256 (GRCm39) T204A probably damaging Het
Elovl5 T C 9: 77,868,199 (GRCm39) V37A probably benign Het
Etv1 A G 12: 38,907,105 (GRCm39) E369G probably damaging Het
Gem G A 4: 11,705,939 (GRCm39) R9H probably damaging Het
Heg1 A G 16: 33,530,847 (GRCm39) T108A probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Iqgap2 C T 13: 95,807,904 (GRCm39) V788M probably damaging Het
Kyat3 T C 3: 142,437,054 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Meis2 A G 2: 115,890,044 (GRCm39) M146T probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Nt5el T C 13: 105,255,253 (GRCm39) Y445H probably benign Het
Nup214 T C 2: 31,867,929 (GRCm39) probably null Het
Or2h1b T A 17: 37,462,228 (GRCm39) I58F probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Poln C T 5: 34,286,796 (GRCm39) C124Y probably benign Het
Ppp2r2a T A 14: 67,266,386 (GRCm39) I92L probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf130 T C 11: 49,978,267 (GRCm39) V276A possibly damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Scn7a T A 2: 66,506,780 (GRCm39) M1370L probably benign Het
Sema4b C A 7: 79,865,399 (GRCm39) L125I probably damaging Het
Slc12a7 C T 13: 73,938,853 (GRCm39) T210I possibly damaging Het
Sox8 A C 17: 25,786,309 (GRCm39) *465G probably null Het
Spg11 G T 2: 121,943,675 (GRCm39) T159K possibly damaging Het
Stk36 A G 1: 74,671,966 (GRCm39) R889G possibly damaging Het
Tmbim7 A G 5: 3,711,796 (GRCm39) S14G probably benign Het
Usp16 A G 16: 87,267,242 (GRCm39) N211D probably damaging Het
Vmn1r6 C T 6: 56,979,677 (GRCm39) A113V possibly damaging Het
Zc3h14 A G 12: 98,730,219 (GRCm39) N92D possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- CATTTGCTTCTTGGATCAAGGAATC -3'
(R):5'- AGCATATCCCAGCCTTCAAGAATG -3'

Sequencing Primer
(F):5'- TGGATCAAGGAATCATTAACTAAGGC -3'
(R):5'- CAAGCAAGGTTAACCTGC -3'
Posted On 2015-07-07