Incidental Mutation 'R2247:Zfp236'
ID 240923
Institutional Source Beutler Lab
Gene Symbol Zfp236
Ensembl Gene ENSMUSG00000041258
Gene Name zinc finger protein 236
Synonyms LOC240456
MMRRC Submission 040247-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2247 (G1)
Quality Score 197
Status Not validated
Chromosome 18
Chromosomal Location 82611718-82711008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82622423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1621 (F1621S)
Ref Sequence ENSEMBL: ENSMUSP00000130004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000183048]
AlphaFold S4R299
Predicted Effect possibly damaging
Transcript: ENSMUST00000171071
AA Change: F1621S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: F1621S

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: F1669S

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: F1669S

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
SMART Domains Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258

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 probably benign
Transcript: ENSMUST00000183324
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,435 (GRCm39) E70G possibly damaging Het
Ash1l C A 3: 88,914,674 (GRCm39) P1768Q possibly damaging Het
Bicra C A 7: 15,723,159 (GRCm39) E119D probably benign Het
Brd2 A G 17: 34,333,389 (GRCm39) F421L probably damaging Het
Cspp1 A T 1: 10,136,685 (GRCm39) Q182L possibly damaging Het
Dnah7b A G 1: 46,316,223 (GRCm39) D3112G probably damaging Het
Dsc2 T A 18: 20,168,369 (GRCm39) I697F probably damaging Het
Ephb1 A T 9: 101,874,010 (GRCm39) S555T probably damaging Het
Fat4 A T 3: 38,946,198 (GRCm39) D1697V probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Impg2 A G 16: 56,088,627 (GRCm39) K1160R probably damaging Het
Jak2 T C 19: 29,261,036 (GRCm39) V344A probably benign Het
Kcnab3 A G 11: 69,221,016 (GRCm39) T168A probably damaging Het
Kctd18 A T 1: 58,006,801 (GRCm39) H16Q possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh11 A G 16: 14,095,423 (GRCm39) L113P probably damaging Het
Myh13 A T 11: 67,225,384 (GRCm39) I250F probably damaging Het
Nin T C 12: 70,101,319 (GRCm39) Y426C probably damaging Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Or51ab3 T A 7: 103,201,097 (GRCm39) probably null Het
Pbrm1 A G 14: 30,796,850 (GRCm39) H897R probably damaging Het
Pgap4 T C 4: 49,586,209 (GRCm39) S320G probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Psapl1 A G 5: 36,362,410 (GRCm39) E334G probably benign Het
Pwwp3a A G 10: 80,076,259 (GRCm39) Y483C probably damaging Het
Raly A G 2: 154,705,953 (GRCm39) H277R possibly damaging Het
Ranbp9 T C 13: 43,565,901 (GRCm39) K462E probably damaging Het
Rptn A G 3: 93,304,136 (GRCm39) T490A probably benign Het
Rtl1 T C 12: 109,561,413 (GRCm39) H142R possibly damaging Het
Scart2 G A 7: 139,829,042 (GRCm39) G234S probably null Het
Shisa3 G A 5: 67,768,666 (GRCm39) V189M probably benign Het
Slc25a36 A T 9: 96,982,191 (GRCm39) L28Q probably damaging Het
Slc38a8 A G 8: 120,212,389 (GRCm39) M318T probably benign Het
Slc4a11 A T 2: 130,529,721 (GRCm39) M328K probably benign Het
Sp2 A C 11: 96,852,844 (GRCm39) probably null Het
Sult2b1 A T 7: 45,384,734 (GRCm39) I114N probably damaging Het
Synrg T C 11: 83,900,202 (GRCm39) S803P probably damaging Het
Tenm4 T A 7: 96,555,216 (GRCm39) D2603E probably benign Het
Tnfaip8 ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 18: 50,179,912 (GRCm39) probably null Het
Zfp189 T A 4: 49,530,393 (GRCm39) C499S 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
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
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'- ATGCCTACGACAACTGGTACAC -3'
(R):5'- GCACAGTGCTTACCTTGCTTAC -3'

Sequencing Primer
(F):5'- TCTCTAGAAACGTAGCAGACATGTG -3'
(R):5'- GCTTACTTGGCAGCCTGC -3'
Posted On 2014-10-15