Incidental Mutation 'R5527:Zfp236'
ID 431963
Institutional Source Beutler Lab
Gene Symbol Zfp236
Ensembl Gene ENSMUSG00000041258
Gene Name zinc finger protein 236
Synonyms LOC240456
MMRRC Submission 043085-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5527 (G1)
Quality Score 206
Status Not validated
Chromosome 18
Chromosomal Location 82611718-82711008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82676159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 386 (V386E)
Ref Sequence ENSEMBL: ENSMUSP00000138179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000183048]
AlphaFold S4R299
Predicted Effect probably benign
Transcript: ENSMUST00000171071
AA Change: V338E

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: V338E

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: V386E

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: V386E

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 possibly damaging
Transcript: ENSMUST00000183048
AA Change: V386E

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: V386E

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
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,278,842 (GRCm39) Y1051N probably benign Het
Bach1 T C 16: 87,516,433 (GRCm39) S325P probably benign Het
Baz2a T C 10: 127,960,786 (GRCm39) S1529P probably damaging Het
Bicd1 T C 6: 149,396,134 (GRCm39) L168P probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccnt2 T C 1: 127,730,401 (GRCm39) M426T probably benign Het
Cdk7 C T 13: 100,866,980 (GRCm39) V38I probably damaging Het
Cenpj T C 14: 56,764,440 (GRCm39) Y1324C probably damaging Het
Cplane2 C A 4: 140,947,303 (GRCm39) A228D probably damaging Het
Ddx47 C A 6: 134,988,657 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,328,014 (GRCm39) Q3370* probably null Het
Dnah6 C T 6: 73,136,212 (GRCm39) V976I probably benign Het
Dock7 C T 4: 98,842,105 (GRCm39) probably benign Het
Dpy19l3 A T 7: 35,413,555 (GRCm39) I362N possibly damaging Het
Fam118a A T 15: 84,942,999 (GRCm39) T343S probably benign Het
Fcgbp T A 7: 27,793,060 (GRCm39) D1021E probably benign Het
Fkbp1b T C 12: 4,883,746 (GRCm39) Y83C probably damaging Het
Flt4 T C 11: 49,525,581 (GRCm39) I709T probably damaging Het
Gga3 G T 11: 115,478,262 (GRCm39) A510D probably damaging Het
Heatr1 T C 13: 12,417,641 (GRCm39) I264T probably damaging Het
Heatr1 T C 13: 12,419,829 (GRCm39) I384T probably benign Het
Hes2 T C 4: 152,244,849 (GRCm39) V106A probably benign Het
Igf1r T A 7: 67,857,569 (GRCm39) M1083K probably damaging Het
Il7r A T 15: 9,513,010 (GRCm39) D166E probably benign Het
Ipo4 G A 14: 55,869,507 (GRCm39) probably null Het
Klk1b26 T C 7: 43,662,187 (GRCm39) I15T probably benign Het
Krt42 T C 11: 100,154,121 (GRCm39) probably benign Het
Lag3 T C 6: 124,885,592 (GRCm39) T263A probably damaging Het
Lilra6 T A 7: 3,917,586 (GRCm39) probably benign Het
Lrrc31 T A 3: 30,745,377 (GRCm39) H90L probably damaging Het
Lvrn G A 18: 47,006,870 (GRCm39) D331N probably damaging Het
Me2 A T 18: 73,924,187 (GRCm39) W342R probably damaging Het
Mob2 A G 7: 141,563,147 (GRCm39) F220S probably damaging Het
Mroh4 A G 15: 74,486,865 (GRCm39) I342T probably damaging Het
Naa15 T C 3: 51,349,368 (GRCm39) Y46H probably damaging Het
Neb A G 2: 52,224,465 (GRCm39) V10A unknown Het
Nlrc5 A G 8: 95,217,044 (GRCm39) H1011R probably damaging Het
Nr1i3 A G 1: 171,041,921 (GRCm39) T2A possibly damaging Het
Nrros T C 16: 31,963,288 (GRCm39) N207S probably damaging Het
Or52m2 A T 7: 102,263,768 (GRCm39) S143T probably benign Het
Or7c70 C T 10: 78,683,609 (GRCm39) V47M probably benign Het
Pcare A T 17: 72,059,635 (GRCm39) V14D probably damaging Het
Ptprz1 C T 6: 23,000,052 (GRCm39) T714I possibly damaging Het
Rp1 T C 1: 4,416,616 (GRCm39) T1499A possibly damaging Het
Rubcn T C 16: 32,647,081 (GRCm39) K771E probably damaging Het
Sbds T C 5: 130,275,247 (GRCm39) E227G possibly damaging Het
Setd1a C T 7: 127,384,801 (GRCm39) P8S probably damaging Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Spef1 T A 2: 131,014,661 (GRCm39) D87V probably damaging Het
Supv3l1 C T 10: 62,265,608 (GRCm39) R644Q probably damaging Het
Thoc6 A G 17: 23,889,769 (GRCm39) F51S probably damaging Het
Tm4sf19 T C 16: 32,226,739 (GRCm39) L176P probably damaging Het
Tma16 A G 8: 66,936,776 (GRCm39) I17T possibly damaging Het
Tpd52l2 G A 2: 181,143,847 (GRCm39) probably null Het
Ube2j1 C T 4: 33,045,164 (GRCm39) P146S probably benign Het
Ubr4 T A 4: 139,208,099 (GRCm39) I4960N possibly damaging Het
Usp13 A G 3: 32,919,987 (GRCm39) D224G probably damaging Het
Uxs1 T C 1: 43,819,240 (GRCm39) T188A probably damaging Het
Vmn2r12 A T 5: 109,234,483 (GRCm39) Y576* probably null Het
Vmn2r73 T C 7: 85,507,575 (GRCm39) D579G possibly damaging Het
Xpr1 T C 1: 155,165,981 (GRCm39) N524D probably benign Het
Xrn2 A T 2: 146,871,675 (GRCm39) I366L probably benign Het
Zfp292 A T 4: 34,806,261 (GRCm39) L2261Q probably damaging Het
Zpld1 C G 16: 55,046,725 (GRCm39) E415Q 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 82,676,198 (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
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
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'- TGAGCCATCTAGACCTCAGCAC -3'
(R):5'- AATGTTGCTGTGTTCCAGGC -3'

Sequencing Primer
(F):5'- GCACTTCCTGTTGGTAATCACATAGG -3'
(R):5'- TGTGTTCCAGGCCACGATC -3'
Posted On 2016-10-05