Incidental Mutation 'R2484:Zfp236'
ID 250899
Institutional Source Beutler Lab
Gene Symbol Zfp236
Ensembl Gene ENSMUSG00000041258
Gene Name zinc finger protein 236
Synonyms LOC240456
MMRRC Submission 040408-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2484 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 82611718-82711008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82686762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
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: F259L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: F259L

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: F259L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: F259L

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: ENSMUST00000183048
AA Change: F259L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: F259L

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 0.0690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,541,819 (GRCm39) D46N possibly damaging Het
A830018L16Rik G T 1: 11,666,526 (GRCm39) A278S probably damaging Het
Acsbg3 A G 17: 57,189,641 (GRCm39) N252S probably benign Het
Adarb2 A T 13: 8,619,810 (GRCm39) K99* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn1l A G 8: 110,458,883 (GRCm39) S460P probably damaging Het
Bicra T A 7: 15,722,605 (GRCm39) N304I possibly damaging Het
Capn10 A T 1: 92,872,565 (GRCm39) D470V probably damaging Het
Chchd3 A G 6: 32,780,950 (GRCm39) Y184H possibly damaging Het
Col6a6 T C 9: 105,658,003 (GRCm39) I736M probably damaging Het
Dhx36 T A 3: 62,380,236 (GRCm39) N820I probably damaging Het
Drd4 C T 7: 140,874,649 (GRCm39) P347S probably benign Het
Ephx1 A T 1: 180,817,537 (GRCm39) V378D probably damaging Het
Extl3 A T 14: 65,313,184 (GRCm39) V666E probably damaging Het
Fam20c G C 5: 138,794,872 (GRCm39) R500S probably benign Het
Glod4 A T 11: 76,130,344 (GRCm39) D42E probably damaging Het
Golga2 T C 2: 32,194,782 (GRCm39) I643T probably benign Het
Hnf1b A T 11: 83,752,661 (GRCm39) T73S probably benign Het
Hydin A G 8: 111,239,747 (GRCm39) Y2009C possibly damaging Het
Ido2 A G 8: 25,023,831 (GRCm39) C336R probably damaging Het
Ifngr1 T C 10: 19,477,163 (GRCm39) V108A probably damaging Het
Igbp1b A T 6: 138,634,492 (GRCm39) N317K probably benign Het
Ints14 A G 9: 64,893,366 (GRCm39) S511G probably benign Het
Itpr1 T C 6: 108,346,071 (GRCm39) S125P probably damaging Het
Jag1 T C 2: 136,926,620 (GRCm39) T975A possibly damaging Het
Klra17 A G 6: 129,845,720 (GRCm39) W165R probably damaging Het
Leo1 T A 9: 75,352,755 (GRCm39) N99K possibly damaging Het
Lonp1 C A 17: 56,921,659 (GRCm39) G883C probably damaging Het
Lpin1 C A 12: 16,597,500 (GRCm39) G682W probably damaging Het
Macf1 A C 4: 123,367,465 (GRCm39) L2432R probably damaging Het
Med12l T G 3: 59,205,259 (GRCm39) I2075M probably benign Het
Mroh6 A G 15: 75,756,177 (GRCm39) S660P probably benign Het
Myh6 G T 14: 55,198,699 (GRCm39) Y309* probably null Het
Myof C T 19: 37,892,291 (GRCm39) R1154H probably benign Het
Myrip G A 9: 120,253,685 (GRCm39) E253K probably benign Het
Ndst3 T C 3: 123,346,186 (GRCm39) D281G possibly damaging Het
Nipbl T C 15: 8,353,182 (GRCm39) K1788R probably damaging Het
Nol12 A G 15: 78,824,717 (GRCm39) probably benign Het
Nptn A G 9: 58,550,956 (GRCm39) T212A possibly damaging Het
Nptx2 C T 5: 144,493,155 (GRCm39) A414V probably damaging Het
Nub1 A G 5: 24,913,700 (GRCm39) D503G possibly damaging Het
Obscn T A 11: 58,898,366 (GRCm39) probably benign Het
Or4a80 A G 2: 89,582,578 (GRCm39) I198T probably benign Het
Or51q1 A G 7: 103,628,545 (GRCm39) T49A probably benign Het
Or5b97 C T 19: 12,879,005 (GRCm39) M46I probably benign Het
Pcnx2 T C 8: 126,617,859 (GRCm39) E132G probably damaging Het
Pkdcc A G 17: 83,529,667 (GRCm39) probably benign Het
Prdm2 T A 4: 142,861,776 (GRCm39) I505F probably damaging Het
Psmc3 C G 2: 90,886,346 (GRCm39) Q169E probably damaging Het
Ptger4 A T 15: 5,264,654 (GRCm39) I334N probably benign Het
Ptrh1 T C 2: 32,667,183 (GRCm39) M161T probably benign Het
Rapgef6 T A 11: 54,533,582 (GRCm39) V482D possibly damaging Het
Rdh16f2 T C 10: 127,710,946 (GRCm39) S188P probably damaging Het
Rrh T C 3: 129,616,040 (GRCm39) Y31C probably damaging Het
Selp G T 1: 163,971,523 (GRCm39) W659L probably benign Het
Selp G T 1: 163,971,524 (GRCm39) W659C probably damaging Het
Shh A G 5: 28,671,740 (GRCm39) C8R probably benign Het
Spdye4b C A 5: 143,187,848 (GRCm39) S167R possibly damaging Het
Strip1 T C 3: 107,535,537 (GRCm39) Y62C possibly damaging Het
Sucla2 A T 14: 73,819,149 (GRCm39) I232F probably benign Het
Sugp1 A G 8: 70,522,174 (GRCm39) D437G possibly damaging Het
Taf1a A G 1: 183,177,422 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,153,283 (GRCm39) M271K probably damaging Het
Tecpr2 T C 12: 110,899,752 (GRCm39) S707P probably benign Het
Tert G A 13: 73,796,104 (GRCm39) R1017H probably benign Het
Tox C G 4: 6,688,886 (GRCm39) V493L probably damaging Het
Tpo C T 12: 30,153,968 (GRCm39) A246T probably benign Het
Traf7 A T 17: 24,730,613 (GRCm39) V358D probably damaging Het
Trim56 C T 5: 137,141,528 (GRCm39) V663M possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usf3 C T 16: 44,041,045 (GRCm39) H1842Y probably damaging Het
Uvrag T C 7: 98,537,668 (GRCm39) E509G probably benign Het
Vmn2r5 T C 3: 64,411,392 (GRCm39) D305G possibly damaging Het
Vmn2r52 T C 7: 9,903,058 (GRCm39) R457G probably damaging Het
Vti1a A C 19: 55,369,411 (GRCm39) N101T possibly 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
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
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'- CAAAACAGCATGTTCCCATCAGTG -3'
(R):5'- TTGGACACCTGGCAGAGTTC -3'

Sequencing Primer
(F):5'- GGCTACTGTACATAAACTCAATCTGC -3'
(R):5'- CTCTCATTCTGAAATATTCACAGCG -3'
Posted On 2014-12-04