Incidental Mutation 'R5264:Zfp236'
ID 401625
Institutional Source Beutler Lab
Gene Symbol Zfp236
Ensembl Gene ENSMUSG00000041258
Gene Name zinc finger protein 236
Synonyms LOC240456
MMRRC Submission 042832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5264 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 82611718-82711008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82676198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 373 (E373G)
Ref Sequence ENSEMBL: ENSMUSP00000138179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000183048]
AlphaFold S4R299
Predicted Effect possibly damaging
Transcript: ENSMUST00000171071
AA Change: E325G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: E325G

DomainStartEndE-ValueType
ZnF_C2H2 39 61 2.24e-3 SMART
ZnF_C2H2 68 90 2.29e0 SMART
ZnF_C2H2 95 117 1.26e-2 SMART
ZnF_C2H2 123 145 6.67e-2 SMART
ZnF_C2H2 155 177 6.42e-4 SMART
ZnF_C2H2 199 221 1.75e-5 SMART
ZnF_C2H2 227 249 1.52e-5 SMART
ZnF_C2H2 255 278 8.94e-3 SMART
low complexity region 290 309 N/A INTRINSIC
low complexity region 403 426 N/A INTRINSIC
ZnF_C2H2 436 458 1.98e-4 SMART
ZnF_C2H2 464 486 9.58e-3 SMART
ZnF_C2H2 492 514 6.42e-4 SMART
ZnF_C2H2 520 542 1.18e-2 SMART
low complexity region 592 605 N/A INTRINSIC
ZnF_C2H2 611 633 1.62e0 SMART
ZnF_C2H2 639 661 5.21e-4 SMART
ZnF_C2H2 667 689 6.78e-3 SMART
ZnF_C2H2 695 717 7.37e-4 SMART
low complexity region 720 733 N/A INTRINSIC
ZnF_C2H2 922 944 5.21e-4 SMART
ZnF_C2H2 950 972 1.04e-3 SMART
ZnF_C2H2 978 1000 8.6e-5 SMART
ZnF_C2H2 1006 1028 2.75e-3 SMART
low complexity region 1030 1039 N/A INTRINSIC
ZnF_C2H2 1122 1144 7.78e-3 SMART
ZnF_C2H2 1150 1172 3.63e-3 SMART
ZnF_C2H2 1178 1200 6.88e-4 SMART
ZnF_C2H2 1206 1228 5.42e-2 SMART
low complexity region 1243 1258 N/A INTRINSIC
low complexity region 1462 1477 N/A INTRINSIC
ZnF_C2H2 1612 1635 7.15e-2 SMART
ZnF_C2H2 1641 1663 2.91e-2 SMART
ZnF_C2H2 1677 1699 7.26e-3 SMART
ZnF_C2H2 1705 1727 1.84e-4 SMART
ZnF_C2H2 1733 1756 2.95e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182122
AA Change: E373G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: E373G

DomainStartEndE-ValueType
ZnF_C2H2 39 61 2.24e-3 SMART
ZnF_C2H2 68 90 2.29e0 SMART
ZnF_C2H2 95 117 1.26e-2 SMART
ZnF_C2H2 123 145 6.67e-2 SMART
ZnF_C2H2 155 177 6.42e-4 SMART
ZnF_C2H2 199 221 1.75e-5 SMART
ZnF_C2H2 227 249 1.52e-5 SMART
ZnF_C2H2 255 278 8.94e-3 SMART
ZnF_C2H2 287 310 9.58e-3 SMART
low complexity region 338 357 N/A INTRINSIC
low complexity region 451 474 N/A INTRINSIC
ZnF_C2H2 484 506 1.98e-4 SMART
ZnF_C2H2 512 534 9.58e-3 SMART
ZnF_C2H2 540 562 6.42e-4 SMART
ZnF_C2H2 568 590 1.18e-2 SMART
low complexity region 640 653 N/A INTRINSIC
ZnF_C2H2 659 681 1.62e0 SMART
ZnF_C2H2 687 709 5.21e-4 SMART
ZnF_C2H2 715 737 6.78e-3 SMART
ZnF_C2H2 743 765 7.37e-4 SMART
low complexity region 768 781 N/A INTRINSIC
ZnF_C2H2 970 992 5.21e-4 SMART
ZnF_C2H2 998 1020 1.04e-3 SMART
ZnF_C2H2 1026 1048 8.6e-5 SMART
ZnF_C2H2 1054 1076 2.75e-3 SMART
low complexity region 1078 1087 N/A INTRINSIC
ZnF_C2H2 1170 1192 7.78e-3 SMART
ZnF_C2H2 1198 1220 3.63e-3 SMART
ZnF_C2H2 1226 1248 6.88e-4 SMART
ZnF_C2H2 1254 1276 5.42e-2 SMART
low complexity region 1291 1306 N/A INTRINSIC
low complexity region 1510 1525 N/A INTRINSIC
ZnF_C2H2 1660 1683 7.15e-2 SMART
ZnF_C2H2 1689 1711 2.91e-2 SMART
ZnF_C2H2 1725 1747 7.26e-3 SMART
ZnF_C2H2 1753 1775 1.84e-4 SMART
ZnF_C2H2 1781 1804 2.95e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183048
AA Change: E373G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: E373G

DomainStartEndE-ValueType
ZnF_C2H2 39 61 2.24e-3 SMART
ZnF_C2H2 68 90 2.29e0 SMART
ZnF_C2H2 95 117 1.26e-2 SMART
ZnF_C2H2 123 145 6.67e-2 SMART
ZnF_C2H2 155 177 6.42e-4 SMART
ZnF_C2H2 199 221 1.75e-5 SMART
ZnF_C2H2 227 249 1.52e-5 SMART
ZnF_C2H2 255 278 8.94e-3 SMART
ZnF_C2H2 287 310 9.58e-3 SMART
low complexity region 338 357 N/A INTRINSIC
low complexity region 454 467 N/A INTRINSIC
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ckap2l A T 2: 129,127,299 (GRCm39) M293K probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Dnai7 A G 6: 145,127,502 (GRCm39) V469A probably benign Het
Efcab7 G A 4: 99,735,372 (GRCm39) R132H probably benign Het
Elovl4 T C 9: 83,662,817 (GRCm39) T239A probably benign Het
Fank1 A G 7: 133,481,621 (GRCm39) D240G probably damaging Het
Fbln5 T A 12: 101,723,703 (GRCm39) M346L possibly damaging Het
Fbxl21 T C 13: 56,680,136 (GRCm39) F174L probably benign Het
Gns A G 10: 121,216,090 (GRCm39) D279G probably benign Het
Hmcn1 A G 1: 150,555,265 (GRCm39) V2502A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Large2 A G 2: 92,205,088 (GRCm39) probably benign Het
Lrrc8b A T 5: 105,628,118 (GRCm39) I155F probably damaging Het
Morc2b T C 17: 33,357,353 (GRCm39) I140V probably benign Het
Mrgprb5 G A 7: 47,817,796 (GRCm39) S313L probably benign Het
Nectin4 A T 1: 171,211,273 (GRCm39) T266S probably benign Het
Nsd1 C T 13: 55,395,159 (GRCm39) A1023V possibly damaging Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Paqr8 A G 1: 21,005,332 (GRCm39) H162R possibly damaging Het
Pclo G A 5: 14,726,937 (GRCm39) probably benign Het
Phactr4 T C 4: 132,098,293 (GRCm39) D325G probably damaging Het
Plcg2 A T 8: 118,361,532 (GRCm39) E1255V possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Polr3b A T 10: 84,503,280 (GRCm39) Q399L probably benign Het
Ppp1r35 G A 5: 137,778,286 (GRCm39) probably benign Het
Psd3 A T 8: 68,166,377 (GRCm39) D919E probably benign Het
Ptgs2 A G 1: 149,978,481 (GRCm39) T198A possibly damaging Het
Ptpn14 T C 1: 189,564,997 (GRCm39) probably null Het
Ptprk A G 10: 28,461,582 (GRCm39) Y39C probably damaging Het
R3hdm4 A G 10: 79,749,175 (GRCm39) Y75H probably benign Het
Rsph4a A G 10: 33,785,379 (GRCm39) Y430C probably damaging Het
Samd12 C T 15: 53,723,669 (GRCm39) C8Y probably damaging Het
Sema3e A C 5: 14,276,662 (GRCm39) L314F probably damaging Het
Sis A G 3: 72,857,089 (GRCm39) F401L probably damaging Het
Smoc1 T A 12: 81,151,474 (GRCm39) S64T probably damaging Het
Socs5 T A 17: 87,441,769 (GRCm39) H236Q probably damaging Het
Spaca1 C A 4: 34,049,863 (GRCm39) R45L possibly damaging Het
Spag6 A G 2: 18,750,324 (GRCm39) K457E probably benign Het
Stat2 T A 10: 128,116,934 (GRCm39) probably null Het
Tcp11l2 A G 10: 84,449,524 (GRCm39) I496M probably damaging Het
Ttll4 A G 1: 74,725,535 (GRCm39) I648V possibly damaging Het
Vmn2r67 T C 7: 84,801,453 (GRCm39) Y161C probably damaging Het
Wnt5b A T 6: 119,410,813 (GRCm39) V171E probably damaging Het
Zfp617 A G 8: 72,686,885 (GRCm39) Y405C probably damaging Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Zfp236
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Zfp236 APN 18 82,686,815 (GRCm39) missense probably benign 0.44
IGL01760:Zfp236 APN 18 82,639,547 (GRCm39) missense probably damaging 1.00
IGL01923:Zfp236 APN 18 82,700,344 (GRCm39) missense probably damaging 0.98
IGL01934:Zfp236 APN 18 82,651,245 (GRCm39) missense probably damaging 0.99
IGL01949:Zfp236 APN 18 82,642,521 (GRCm39) missense probably damaging 1.00
IGL02063:Zfp236 APN 18 82,676,276 (GRCm39) missense probably benign
IGL02496:Zfp236 APN 18 82,648,117 (GRCm39) missense probably damaging 1.00
IGL02513:Zfp236 APN 18 82,648,239 (GRCm39) missense probably damaging 1.00
IGL02626:Zfp236 APN 18 82,676,120 (GRCm39) splice site probably benign
IGL02880:Zfp236 APN 18 82,642,584 (GRCm39) missense probably benign 0.15
IGL03156:Zfp236 APN 18 82,698,827 (GRCm39) missense probably damaging 1.00
IGL03261:Zfp236 APN 18 82,648,733 (GRCm39) missense possibly damaging 0.93
R0047:Zfp236 UTSW 18 82,698,817 (GRCm39) missense probably damaging 1.00
R0052:Zfp236 UTSW 18 82,657,457 (GRCm39) missense probably damaging 1.00
R0194:Zfp236 UTSW 18 82,675,112 (GRCm39) missense probably damaging 1.00
R0207:Zfp236 UTSW 18 82,658,352 (GRCm39) missense probably damaging 1.00
R0234:Zfp236 UTSW 18 82,648,119 (GRCm39) missense probably damaging 1.00
R0234:Zfp236 UTSW 18 82,648,119 (GRCm39) missense probably damaging 1.00
R0302:Zfp236 UTSW 18 82,676,213 (GRCm39) missense probably damaging 0.99
R0730:Zfp236 UTSW 18 82,658,369 (GRCm39) splice site probably benign
R0755:Zfp236 UTSW 18 82,638,457 (GRCm39) missense probably damaging 1.00
R1202:Zfp236 UTSW 18 82,646,291 (GRCm39) missense probably benign 0.00
R1449:Zfp236 UTSW 18 82,664,130 (GRCm39) missense probably damaging 1.00
R1550:Zfp236 UTSW 18 82,692,549 (GRCm39) missense possibly damaging 0.81
R1785:Zfp236 UTSW 18 82,639,429 (GRCm39) missense probably benign 0.08
R1786:Zfp236 UTSW 18 82,639,429 (GRCm39) missense probably benign 0.08
R2042:Zfp236 UTSW 18 82,651,234 (GRCm39) missense probably damaging 1.00
R2132:Zfp236 UTSW 18 82,639,429 (GRCm39) missense probably benign 0.08
R2133:Zfp236 UTSW 18 82,639,429 (GRCm39) missense probably benign 0.08
R2247:Zfp236 UTSW 18 82,622,423 (GRCm39) missense possibly damaging 0.82
R2484:Zfp236 UTSW 18 82,686,762 (GRCm39) missense probably benign 0.05
R3715:Zfp236 UTSW 18 82,651,095 (GRCm39) splice site probably benign
R4003:Zfp236 UTSW 18 82,698,870 (GRCm39) nonsense probably null
R4031:Zfp236 UTSW 18 82,642,590 (GRCm39) missense probably damaging 1.00
R4482:Zfp236 UTSW 18 82,662,346 (GRCm39) missense probably benign 0.04
R4492:Zfp236 UTSW 18 82,648,125 (GRCm39) missense probably damaging 1.00
R4502:Zfp236 UTSW 18 82,655,079 (GRCm39) missense probably benign 0.13
R4561:Zfp236 UTSW 18 82,638,531 (GRCm39) missense probably damaging 1.00
R4649:Zfp236 UTSW 18 82,615,784 (GRCm39) missense probably damaging 1.00
R4902:Zfp236 UTSW 18 82,627,543 (GRCm39) missense possibly damaging 0.89
R5064:Zfp236 UTSW 18 82,709,701 (GRCm39) critical splice donor site probably null
R5084:Zfp236 UTSW 18 82,627,556 (GRCm39) missense probably damaging 1.00
R5090:Zfp236 UTSW 18 82,637,006 (GRCm39) missense probably benign 0.08
R5191:Zfp236 UTSW 18 82,639,548 (GRCm39) missense probably damaging 1.00
R5264:Zfp236 UTSW 18 82,648,219 (GRCm39) missense probably damaging 1.00
R5339:Zfp236 UTSW 18 82,642,491 (GRCm39) missense probably damaging 0.99
R5375:Zfp236 UTSW 18 82,615,813 (GRCm39) missense possibly damaging 0.93
R5445:Zfp236 UTSW 18 82,700,281 (GRCm39) missense probably benign 0.02
R5513:Zfp236 UTSW 18 82,676,147 (GRCm39) missense probably damaging 0.97
R5527:Zfp236 UTSW 18 82,676,159 (GRCm39) missense possibly damaging 0.51
R5628:Zfp236 UTSW 18 82,675,247 (GRCm39) missense probably damaging 1.00
R5758:Zfp236 UTSW 18 82,689,834 (GRCm39) missense probably damaging 1.00
R5890:Zfp236 UTSW 18 82,658,276 (GRCm39) missense possibly damaging 0.87
R6137:Zfp236 UTSW 18 82,689,919 (GRCm39) missense possibly damaging 0.89
R6193:Zfp236 UTSW 18 82,622,372 (GRCm39) missense probably damaging 1.00
R6198:Zfp236 UTSW 18 82,675,278 (GRCm39) missense probably damaging 1.00
R6239:Zfp236 UTSW 18 82,675,229 (GRCm39) missense possibly damaging 0.53
R6705:Zfp236 UTSW 18 82,651,862 (GRCm39) missense probably damaging 0.97
R6948:Zfp236 UTSW 18 82,662,187 (GRCm39) missense possibly damaging 0.94
R6989:Zfp236 UTSW 18 82,646,488 (GRCm39) missense probably damaging 1.00
R7002:Zfp236 UTSW 18 82,709,701 (GRCm39) critical splice donor site probably null
R7113:Zfp236 UTSW 18 82,638,462 (GRCm39) missense possibly damaging 0.82
R7261:Zfp236 UTSW 18 82,627,470 (GRCm39) missense possibly damaging 0.86
R7363:Zfp236 UTSW 18 82,639,456 (GRCm39) missense probably damaging 1.00
R7447:Zfp236 UTSW 18 82,651,815 (GRCm39) missense probably damaging 1.00
R7564:Zfp236 UTSW 18 82,662,366 (GRCm39) nonsense probably null
R7731:Zfp236 UTSW 18 82,698,798 (GRCm39) missense probably benign 0.27
R7857:Zfp236 UTSW 18 82,686,726 (GRCm39) nonsense probably null
R7860:Zfp236 UTSW 18 82,692,481 (GRCm39) nonsense probably null
R7904:Zfp236 UTSW 18 82,627,507 (GRCm39) missense possibly damaging 0.90
R7948:Zfp236 UTSW 18 82,642,540 (GRCm39) missense probably damaging 1.00
R7995:Zfp236 UTSW 18 82,657,461 (GRCm39) missense probably damaging 1.00
R8153:Zfp236 UTSW 18 82,648,152 (GRCm39) missense probably damaging 1.00
R8435:Zfp236 UTSW 18 82,658,366 (GRCm39) missense probably damaging 1.00
R8560:Zfp236 UTSW 18 82,664,340 (GRCm39) missense probably damaging 1.00
R8878:Zfp236 UTSW 18 82,617,122 (GRCm39) missense probably damaging 1.00
R8916:Zfp236 UTSW 18 82,664,351 (GRCm39) missense probably damaging 1.00
R9046:Zfp236 UTSW 18 82,637,042 (GRCm39) missense possibly damaging 0.89
R9076:Zfp236 UTSW 18 82,638,469 (GRCm39) missense possibly damaging 0.77
R9243:Zfp236 UTSW 18 82,662,050 (GRCm39) intron probably benign
R9594:Zfp236 UTSW 18 82,664,238 (GRCm39) missense probably damaging 1.00
R9642:Zfp236 UTSW 18 82,622,384 (GRCm39) missense probably benign 0.00
R9707:Zfp236 UTSW 18 82,664,328 (GRCm39) missense probably damaging 1.00
R9748:Zfp236 UTSW 18 82,637,008 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AGCCACATCTTTAGCCAGTG -3'
(R):5'- GAGGCAAAGTTGTATCTCACAG -3'

Sequencing Primer
(F):5'- AGCCAGTGTCTCTGCATCTG -3'
(R):5'- GGCAAAGTTGTATCTCACAGAATTC -3'
Posted On 2016-07-06