Incidental Mutation 'R4926:Sowaha'
ID 379049
Institutional Source Beutler Lab
Gene Symbol Sowaha
Ensembl Gene ENSMUSG00000044352
Gene Name sosondowah ankyrin repeat domain family member A
Synonyms A830006N08Rik, Ankrd43
MMRRC Submission 042527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R4926 (G1)
Quality Score 208
Status Validated
Chromosome 11
Chromosomal Location 53367405-53371022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53370337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 133 (E133V)
Ref Sequence ENSEMBL: ENSMUSP00000100561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067523] [ENSMUST00000104955]
AlphaFold Q8BLS7
Predicted Effect probably benign
Transcript: ENSMUST00000067523
Predicted Effect possibly damaging
Transcript: ENSMUST00000104955
AA Change: E133V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100561
Gene: ENSMUSG00000044352
AA Change: E133V

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 81 100 N/A INTRINSIC
low complexity region 101 113 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
low complexity region 295 308 N/A INTRINSIC
ANK 344 379 1.34e-1 SMART
ANK 383 413 5.84e-2 SMART
low complexity region 496 504 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,272,498 (GRCm39) D136V probably damaging Het
Ankrd17 G A 5: 90,447,891 (GRCm39) R217W probably damaging Het
Ankrd23 A T 1: 36,571,068 (GRCm39) H102Q probably damaging Het
Arfip2 G T 7: 105,287,151 (GRCm39) R138S probably damaging Het
Arhgap27 A T 11: 103,229,949 (GRCm39) probably null Het
Atg2a T C 19: 6,307,563 (GRCm39) L1499P probably damaging Het
Bnc2 A G 4: 84,194,416 (GRCm39) S110P probably damaging Het
Ccdc171 T C 4: 83,476,829 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,706,535 (GRCm39) probably benign Het
Chd5 T C 4: 152,467,768 (GRCm39) S1689P probably benign Het
Corin A G 5: 72,529,525 (GRCm39) C212R probably damaging Het
Cyp2c65 A G 19: 39,049,597 (GRCm39) I42V probably benign Het
Cyp3a25 G A 5: 145,928,266 (GRCm39) R260C probably damaging Het
Dock6 T C 9: 21,757,087 (GRCm39) Y116C probably damaging Het
Eif3a A G 19: 60,751,656 (GRCm39) probably benign Het
Epop T C 11: 97,519,143 (GRCm39) D322G probably damaging Het
Eps8l3 T A 3: 107,798,004 (GRCm39) probably benign Het
Exph5 T C 9: 53,287,925 (GRCm39) S1669P possibly damaging Het
Faah A T 4: 115,856,823 (GRCm39) probably benign Het
Fanca A G 8: 124,030,724 (GRCm39) C453R probably benign Het
Fcgbp T A 7: 27,785,660 (GRCm39) C366S probably damaging Het
Fmn2 A G 1: 174,329,981 (GRCm39) T124A unknown Het
Foxi3 C T 6: 70,933,996 (GRCm39) S161L probably damaging Het
Foxo3 A T 10: 42,073,020 (GRCm39) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Gm839 A C 6: 89,189,581 (GRCm39) noncoding transcript Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Hspa1l A G 17: 35,197,199 (GRCm39) T413A possibly damaging Het
Hspg2 T C 4: 137,269,841 (GRCm39) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,884,093 (GRCm39) I53L probably benign Het
Kcnj11 C T 7: 45,748,544 (GRCm39) V260I probably benign Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrrc41 T C 4: 115,946,521 (GRCm39) V412A possibly damaging Het
Map4k4 A T 1: 40,056,385 (GRCm39) E1023D probably damaging Het
Mark3 T A 12: 111,584,758 (GRCm39) L118* probably null Het
Mrgpra9 T A 7: 46,884,759 (GRCm39) T303S possibly damaging Het
Mterf4 T C 1: 93,232,647 (GRCm39) E68G probably benign Het
Nckap5 A C 1: 126,456,378 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,169 (GRCm39) T339S probably damaging Het
Nrip2 A C 6: 128,385,337 (GRCm39) H256P probably benign Het
Oas1d T C 5: 121,053,831 (GRCm39) V97A probably benign Het
Obox2 T A 7: 15,131,102 (GRCm39) probably null Het
Opa1 T C 16: 29,467,791 (GRCm39) F989S possibly damaging Het
Or10g9 T C 9: 39,912,319 (GRCm39) probably null Het
Padi1 T A 4: 140,552,158 (GRCm39) I429F probably damaging Het
Paics A G 5: 77,109,051 (GRCm39) D163G probably damaging Het
Pik3c2b G T 1: 133,027,364 (GRCm39) E1288* probably null Het
Prdm16 A T 4: 154,426,009 (GRCm39) V593D possibly damaging Het
Prpf39 A G 12: 65,090,830 (GRCm39) I165M possibly damaging Het
Pth2r A G 1: 65,361,143 (GRCm39) T26A probably benign Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Rab44 C T 17: 29,358,529 (GRCm39) A239V probably benign Het
Rtcb T C 10: 85,791,600 (GRCm39) N52S probably benign Het
Sapcd2 T A 2: 25,263,578 (GRCm39) probably null Het
Scaf11 T C 15: 96,316,123 (GRCm39) E1147G possibly damaging Het
Selenoo T C 15: 88,983,881 (GRCm39) Y595H probably damaging Het
Slc2a5 G T 4: 150,205,199 (GRCm39) E3* probably null Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sorbs2 A G 8: 46,249,254 (GRCm39) K755R probably benign Het
Sorbs3 G T 14: 70,424,394 (GRCm39) P513T probably damaging Het
Srsf5 T C 12: 80,994,075 (GRCm39) probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tcp11l1 T C 2: 104,512,130 (GRCm39) I501V probably benign Het
Tert A G 13: 73,796,508 (GRCm39) K1080E possibly damaging Het
Tescl T A 7: 24,033,323 (GRCm39) M1L possibly damaging Het
Thop1 T A 10: 80,909,201 (GRCm39) probably null Het
Tmtc4 T C 14: 123,210,618 (GRCm39) H80R probably damaging Het
Toe1 C T 4: 116,661,729 (GRCm39) S480N probably damaging Het
Trap1 C A 16: 3,863,352 (GRCm39) V557F probably benign Het
Trim30d T C 7: 104,132,564 (GRCm39) E91G probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttll8 C A 15: 88,798,368 (GRCm39) G789V probably damaging Het
Ulk4 A G 9: 121,087,798 (GRCm39) F298S probably benign Het
Wwc1 C T 11: 35,780,227 (GRCm39) A243T probably benign Het
Zfp248 A C 6: 118,406,787 (GRCm39) H267Q possibly damaging Het
Zfyve26 T A 12: 79,321,785 (GRCm39) M945L probably benign Het
Zup1 T C 10: 33,825,434 (GRCm39) D16G probably damaging Het
Other mutations in Sowaha
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Sowaha UTSW 11 53,369,290 (GRCm39) missense probably damaging 1.00
R2113:Sowaha UTSW 11 53,369,789 (GRCm39) missense probably damaging 1.00
R4198:Sowaha UTSW 11 53,369,395 (GRCm39) missense possibly damaging 0.84
R4746:Sowaha UTSW 11 53,370,163 (GRCm39) splice site probably null
R4910:Sowaha UTSW 11 53,369,272 (GRCm39) missense probably damaging 1.00
R5298:Sowaha UTSW 11 53,370,355 (GRCm39) missense probably benign
R5564:Sowaha UTSW 11 53,369,590 (GRCm39) missense probably damaging 1.00
R6056:Sowaha UTSW 11 53,369,914 (GRCm39) missense probably damaging 1.00
R6947:Sowaha UTSW 11 53,369,225 (GRCm39) missense probably benign 0.02
R7026:Sowaha UTSW 11 53,370,050 (GRCm39) missense probably damaging 1.00
R7148:Sowaha UTSW 11 53,370,182 (GRCm39) missense probably benign 0.04
R7263:Sowaha UTSW 11 53,370,485 (GRCm39) missense probably benign 0.43
Z1176:Sowaha UTSW 11 53,369,852 (GRCm39) missense probably benign 0.14
Z1177:Sowaha UTSW 11 53,370,187 (GRCm39) missense probably benign 0.00
Z1189:Sowaha UTSW 11 53,369,279 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- ATGCAAGGCTTCTGCGGTG -3'
(R):5'- TCAAGTTCGTGGTGCTGAGAAAG -3'

Sequencing Primer
(F):5'- ACTCTGTGCTCGTCAGGG -3'
(R):5'- TGGTGCTGAGAAAGAAGCCCC -3'
Posted On 2016-04-15