Incidental Mutation 'R5445:Zfp236'
ID 427435
Institutional Source Beutler Lab
Gene Symbol Zfp236
Ensembl Gene ENSMUSG00000041258
Gene Name zinc finger protein 236
Synonyms LOC240456
MMRRC Submission 043010-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 82611718-82711008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82700281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 63 (Q63K)
Ref Sequence ENSEMBL: ENSMUSP00000138557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000182866] [ENSMUST00000183048]
AlphaFold S4R299
Predicted Effect probably benign
Transcript: ENSMUST00000171071
AA Change: Q63K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: Q63K

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 probably benign
Transcript: ENSMUST00000182122
AA Change: Q63K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: Q63K

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 benign
Transcript: ENSMUST00000182866
AA Change: Q47K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138344
Gene: ENSMUSG00000041258
AA Change: Q47K

DomainStartEndE-ValueType
ZnF_C2H2 23 45 2.24e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183048
AA Change: Q63K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: Q63K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225002
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Dsc2 T C 18: 20,168,360 (GRCm39) I700V possibly damaging Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hemgn T C 4: 46,400,738 (GRCm39) R41G probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rbms3 T A 9: 117,080,853 (GRCm39) D6V possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Spdye4c C T 2: 128,438,484 (GRCm39) Q281* probably null Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Tmco4 A G 4: 138,748,178 (GRCm39) M253V probably damaging Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G probably damaging 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 82,676,198 (GRCm39) missense probably damaging 0.99
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
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'- AAGCAAAATGCCCTCTGAGG -3'
(R):5'- AGTTAATCTCTGGCATTCACTGTC -3'

Sequencing Primer
(F):5'- TGTAATGAGATCTGACGCCC -3'
(R):5'- CACTGTCTGTCTGTGAAATGTTACAG -3'
Posted On 2016-09-01