Incidental Mutation 'R5180:Ankrd35'
ID 470621
Institutional Source Beutler Lab
Gene Symbol Ankrd35
Ensembl Gene ENSMUSG00000038354
Gene Name ankyrin repeat domain 35
Synonyms 4732436F15Rik
MMRRC Submission 042760-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5180 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96577447-96598348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96587789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 109 (H109Q)
Ref Sequence ENSEMBL: ENSMUSP00000047244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048427] [ENSMUST00000122960]
AlphaFold E9Q9D8
Predicted Effect probably damaging
Transcript: ENSMUST00000048427
AA Change: H109Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: H109Q

DomainStartEndE-ValueType
ANK 53 82 4.03e-5 SMART
ANK 86 115 6.46e-4 SMART
ANK 119 148 4.36e-1 SMART
ANK 152 181 1.4e-4 SMART
ANK 185 214 2.25e-3 SMART
ANK 218 247 6.24e2 SMART
coiled coil region 294 339 N/A INTRINSIC
low complexity region 438 455 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
low complexity region 524 536 N/A INTRINSIC
coiled coil region 606 653 N/A INTRINSIC
coiled coil region 729 799 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
coiled coil region 847 956 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130429
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,416,510 (GRCm39) T4091A probably benign Het
Adgrv1 G A 13: 81,431,535 (GRCm39) probably benign Het
Ago3 C T 4: 126,261,544 (GRCm39) V435I probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ampd2 G T 3: 107,986,358 (GRCm39) Q273K probably benign Het
Atpaf2 A G 11: 60,296,695 (GRCm39) L153S possibly damaging Het
C1qtnf7 G A 5: 43,773,156 (GRCm39) V152M probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep295 C T 9: 15,243,416 (GRCm39) C1680Y probably benign Het
Cyp4f15 A T 17: 32,909,714 (GRCm39) I104F probably benign Het
Daam1 A G 12: 71,993,899 (GRCm39) N434S unknown Het
Dab2ip C T 2: 35,610,503 (GRCm39) P782L possibly damaging Het
Dhx34 C A 7: 15,939,405 (GRCm39) G663* probably null Het
Dnah7a T C 1: 53,462,446 (GRCm39) D3715G probably damaging Het
Dnajc11 C T 4: 152,054,396 (GRCm39) R201C probably damaging Het
Erf A T 7: 24,945,690 (GRCm39) I27N probably damaging Het
Fbxl7 T A 15: 26,543,507 (GRCm39) Y380F probably damaging Het
Gm3336 A G 8: 71,173,110 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5134 T C 10: 75,812,200 (GRCm39) Y152H probably damaging Het
Gm6899 A G 11: 26,543,795 (GRCm39) probably benign Het
Gna11 T C 10: 81,380,707 (GRCm39) K19E probably benign Het
Gpr15 C A 16: 58,538,248 (GRCm39) L280F probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80d C A 1: 63,125,488 (GRCm39) probably benign Het
Irak3 T G 10: 119,981,687 (GRCm39) K406T probably damaging Het
Kif15 G A 9: 122,828,275 (GRCm39) C634Y probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Macrod2 A T 2: 140,237,636 (GRCm39) E14V probably damaging Het
Matn3 T A 12: 9,005,374 (GRCm39) D261E probably benign Het
Mdga1 A T 17: 30,076,710 (GRCm39) probably benign Het
Natd1 G T 11: 60,804,482 (GRCm39) R24S probably benign Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Or5b101 A T 19: 13,004,776 (GRCm39) S306T probably benign Het
Parp9 T A 16: 35,774,106 (GRCm39) Y81* probably null Het
Pde4d A G 13: 109,877,007 (GRCm39) N73S probably benign Het
Pigb A T 9: 72,941,872 (GRCm39) I129N probably damaging Het
Plxnb1 C A 9: 108,940,761 (GRCm39) probably null Het
Ppfibp1 G T 6: 146,928,819 (GRCm39) R813L probably damaging Het
Ramp3 T A 11: 6,608,619 (GRCm39) L16Q unknown Het
Slc35a4 T C 18: 36,815,688 (GRCm39) S173P probably benign Het
Slc41a1 T C 1: 131,772,115 (GRCm39) V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,323,231 (GRCm39) probably benign Het
Snph G A 2: 151,442,307 (GRCm39) R43W probably benign Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Supt20 C A 3: 54,616,506 (GRCm39) H254Q probably benign Het
Taar7a A G 10: 23,869,046 (GRCm39) C112R probably damaging Het
Tbc1d4 T C 14: 101,745,008 (GRCm39) Y206C probably damaging Het
Tecta A G 9: 42,248,504 (GRCm39) V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 (GRCm39) Y30* probably null Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tnfrsf1b C A 4: 144,954,067 (GRCm39) C94F probably damaging Het
Ttn A G 2: 76,579,740 (GRCm39) Y23718H probably damaging Het
Ube2i T C 17: 25,484,268 (GRCm39) probably benign Het
Vmn2r16 G T 5: 109,478,391 (GRCm39) V49F probably benign Het
Vps45 A G 3: 95,953,683 (GRCm39) I223T possibly damaging Het
Zfp955a T C 17: 33,461,592 (GRCm39) Y180C probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Zscan18 T A 7: 12,509,216 (GRCm39) probably benign Het
Other mutations in Ankrd35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Ankrd35 APN 3 96,590,350 (GRCm39) splice site probably null
IGL00896:Ankrd35 APN 3 96,591,592 (GRCm39) missense probably damaging 1.00
IGL01565:Ankrd35 APN 3 96,592,101 (GRCm39) missense probably damaging 0.99
IGL01837:Ankrd35 APN 3 96,587,982 (GRCm39) missense probably damaging 1.00
IGL02605:Ankrd35 APN 3 96,588,388 (GRCm39) splice site probably null
IGL02819:Ankrd35 APN 3 96,597,524 (GRCm39) missense possibly damaging 0.80
IGL02994:Ankrd35 APN 3 96,590,307 (GRCm39) splice site probably benign
IGL03083:Ankrd35 APN 3 96,592,117 (GRCm39) missense probably damaging 1.00
IGL03105:Ankrd35 APN 3 96,591,373 (GRCm39) missense probably benign
FR4304:Ankrd35 UTSW 3 96,591,163 (GRCm39) utr 3 prime probably benign
FR4342:Ankrd35 UTSW 3 96,590,831 (GRCm39) frame shift probably null
FR4737:Ankrd35 UTSW 3 96,591,165 (GRCm39) utr 3 prime probably benign
R0003:Ankrd35 UTSW 3 96,591,331 (GRCm39) missense probably damaging 1.00
R0047:Ankrd35 UTSW 3 96,591,379 (GRCm39) missense probably benign 0.00
R0551:Ankrd35 UTSW 3 96,591,276 (GRCm39) missense probably benign 0.08
R1420:Ankrd35 UTSW 3 96,592,054 (GRCm39) missense probably benign 0.13
R1455:Ankrd35 UTSW 3 96,585,471 (GRCm39) missense probably damaging 1.00
R2201:Ankrd35 UTSW 3 96,586,564 (GRCm39) missense possibly damaging 0.93
R3522:Ankrd35 UTSW 3 96,592,378 (GRCm39) missense probably damaging 1.00
R3605:Ankrd35 UTSW 3 96,589,497 (GRCm39) nonsense probably null
R4166:Ankrd35 UTSW 3 96,586,471 (GRCm39) splice site probably null
R4651:Ankrd35 UTSW 3 96,591,343 (GRCm39) missense probably benign 0.00
R4668:Ankrd35 UTSW 3 96,586,524 (GRCm39) missense probably damaging 1.00
R4916:Ankrd35 UTSW 3 96,591,438 (GRCm39) missense probably benign
R4921:Ankrd35 UTSW 3 96,592,140 (GRCm39) missense possibly damaging 0.61
R4953:Ankrd35 UTSW 3 96,590,989 (GRCm39) missense possibly damaging 0.56
R5583:Ankrd35 UTSW 3 96,592,219 (GRCm39) missense probably damaging 1.00
R5604:Ankrd35 UTSW 3 96,592,215 (GRCm39) missense probably benign 0.02
R5613:Ankrd35 UTSW 3 96,590,334 (GRCm39) missense possibly damaging 0.76
R6165:Ankrd35 UTSW 3 96,590,623 (GRCm39) missense possibly damaging 0.93
R6413:Ankrd35 UTSW 3 96,592,129 (GRCm39) missense probably damaging 0.96
R6711:Ankrd35 UTSW 3 96,590,784 (GRCm39) nonsense probably null
R6834:Ankrd35 UTSW 3 96,590,599 (GRCm39) missense possibly damaging 0.68
R6841:Ankrd35 UTSW 3 96,577,742 (GRCm39) missense probably damaging 1.00
R7028:Ankrd35 UTSW 3 96,590,650 (GRCm39) missense possibly damaging 0.92
R7396:Ankrd35 UTSW 3 96,590,813 (GRCm39) missense probably damaging 1.00
R7425:Ankrd35 UTSW 3 96,592,104 (GRCm39) missense not run
R7815:Ankrd35 UTSW 3 96,592,117 (GRCm39) missense probably damaging 1.00
R7887:Ankrd35 UTSW 3 96,592,216 (GRCm39) missense probably damaging 1.00
R8103:Ankrd35 UTSW 3 96,586,997 (GRCm39) missense possibly damaging 0.93
R8318:Ankrd35 UTSW 3 96,592,038 (GRCm39) missense probably damaging 1.00
R8492:Ankrd35 UTSW 3 96,589,529 (GRCm39) critical splice donor site probably null
R8527:Ankrd35 UTSW 3 96,589,353 (GRCm39) missense probably damaging 1.00
R8542:Ankrd35 UTSW 3 96,589,353 (GRCm39) missense probably damaging 1.00
R8742:Ankrd35 UTSW 3 96,586,502 (GRCm39) missense probably damaging 1.00
R8963:Ankrd35 UTSW 3 96,587,003 (GRCm39) nonsense probably null
R9029:Ankrd35 UTSW 3 96,591,460 (GRCm39) missense probably benign 0.43
R9229:Ankrd35 UTSW 3 96,592,215 (GRCm39) missense probably benign 0.02
R9488:Ankrd35 UTSW 3 96,589,343 (GRCm39) missense probably damaging 1.00
R9669:Ankrd35 UTSW 3 96,587,797 (GRCm39) missense probably damaging 1.00
R9761:Ankrd35 UTSW 3 96,591,733 (GRCm39) missense possibly damaging 0.80
Z1177:Ankrd35 UTSW 3 96,591,086 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACTCCTGGTCTTTTCCAAAGG -3'
(R):5'- ACACAGCAGGAGGACACTTG -3'

Sequencing Primer
(F):5'- TTTCCAAAGGCCCTAGTTAGG -3'
(R):5'- GGACACTTGAGGCGCAG -3'
Posted On 2017-03-29