Incidental Mutation 'R4651:Ankrd35'
ID 351270
Institutional Source Beutler Lab
Gene Symbol Ankrd35
Ensembl Gene ENSMUSG00000038354
Gene Name ankyrin repeat domain 35
Synonyms 4732436F15Rik
MMRRC Submission 041911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4651 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96577447-96598348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96591343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 543 (V543A)
Ref Sequence ENSEMBL: ENSMUSP00000047244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048427] [ENSMUST00000122960]
AlphaFold E9Q9D8
Predicted Effect probably benign
Transcript: ENSMUST00000048427
AA Change: V543A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: V543A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Ahnak2 T G 12: 112,741,271 (GRCm39) S128R possibly damaging Het
Ankrd26 T C 6: 118,492,787 (GRCm39) D1319G probably benign Het
Ano10 A T 9: 122,090,181 (GRCm39) Y377* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10b G A 11: 43,085,472 (GRCm39) G284S probably damaging Het
Atp5f1c A G 2: 10,068,287 (GRCm39) F180S probably damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Ccnf C A 17: 24,450,760 (GRCm39) R406L probably damaging Het
Ceacam12 A G 7: 17,801,359 (GRCm39) T113A probably damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Col12a1 A T 9: 79,520,228 (GRCm39) D2815E probably damaging Het
Cpox G T 16: 58,491,050 (GRCm39) R87L possibly damaging Het
Cttnbp2 A G 6: 18,434,037 (GRCm39) I607T possibly damaging Het
Cux1 A T 5: 136,596,083 (GRCm39) N4K probably damaging Het
Cyp3a25 T C 5: 145,931,701 (GRCm39) T136A probably benign Het
Dhx58 T A 11: 100,592,185 (GRCm39) N288Y probably damaging Het
Dnah10 T C 5: 124,806,207 (GRCm39) Y127H probably benign Het
Dnd1 G A 18: 36,898,114 (GRCm39) probably benign Het
Ehmt2 C A 17: 35,132,790 (GRCm39) N1171K probably damaging Het
Fanci T A 7: 79,085,004 (GRCm39) M838K possibly damaging Het
Flot1 T C 17: 36,143,436 (GRCm39) probably benign Het
Gad2 A T 2: 22,558,374 (GRCm39) D364V probably damaging Het
Gm10375 C A 14: 43,844,326 (GRCm39) probably null Het
Gm9996 T A 10: 29,019,754 (GRCm39) probably benign Het
Gnat3 T A 5: 18,220,568 (GRCm39) L247H probably damaging Het
Ip6k3 C T 17: 27,364,265 (GRCm39) C261Y probably damaging Het
Irgc C A 7: 24,132,238 (GRCm39) R193L probably damaging Het
Kalrn G T 16: 33,996,761 (GRCm39) P1477Q probably damaging Het
Kyat1 G T 2: 30,084,076 (GRCm39) H15N probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrc9 T C 12: 72,524,160 (GRCm39) W790R probably damaging Het
Lsm2 T A 17: 35,204,571 (GRCm39) probably benign Het
Med8 A T 4: 118,268,089 (GRCm39) E5V probably damaging Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Mettl25b T C 3: 87,834,979 (GRCm39) H107R probably benign Het
Mettl3 T A 14: 52,532,549 (GRCm39) I545F probably damaging Het
Naa20 CTCTAGA C 2: 145,753,752 (GRCm39) probably benign Het
Ncapg2 T A 12: 116,389,407 (GRCm39) N342K probably damaging Het
Ndufaf6 T A 4: 11,062,070 (GRCm39) Y187F probably damaging Het
Nomo1 T A 7: 45,717,866 (GRCm39) I799N probably damaging Het
Obscn G A 11: 58,929,703 (GRCm39) R5824C probably damaging Het
Or4f6 G T 2: 111,838,595 (GRCm39) S312Y probably damaging Het
Or6c214 T C 10: 129,591,287 (GRCm39) I11V probably benign Het
Or6n2 A G 1: 173,897,394 (GRCm39) I177V possibly damaging Het
Or7g30 T A 9: 19,352,591 (GRCm39) C127* probably null Het
Pgm3 T A 9: 86,440,523 (GRCm39) R389S probably benign Het
Pkd2l2 A T 18: 34,542,889 (GRCm39) R20* probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Ppp4r3a T A 12: 101,049,170 (GRCm39) probably benign Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Prrc2c A T 1: 162,550,843 (GRCm39) H40Q probably damaging Het
Ptprk T C 10: 28,139,686 (GRCm39) I137T probably damaging Het
Sdr42e1 T C 8: 118,390,360 (GRCm39) T94A probably benign Het
Setd2 A G 9: 110,423,200 (GRCm39) D2085G possibly damaging Het
Sgce T C 6: 4,689,560 (GRCm39) probably benign Het
Shisa3 A G 5: 67,765,992 (GRCm39) D81G probably damaging Het
Sipa1l1 T A 12: 82,469,245 (GRCm39) L1248* probably null Het
Skint7 T G 4: 111,839,309 (GRCm39) M201R probably damaging Het
Slc5a3 T A 16: 91,874,090 (GRCm39) V49E probably benign Het
Slc9c1 A T 16: 45,367,756 (GRCm39) *163L probably null Het
Smyd3 A G 1: 178,871,306 (GRCm39) Y358H probably benign Het
Srp68 A T 11: 116,164,840 (GRCm39) S31R probably benign Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Strc A T 2: 121,204,829 (GRCm39) D985E possibly damaging Het
Syne2 A G 12: 76,036,013 (GRCm39) T3767A probably damaging Het
Sytl2 C A 7: 90,024,633 (GRCm39) P207Q probably damaging Het
Tbc1d2b A G 9: 90,089,940 (GRCm39) F863S probably damaging Het
Tek T C 4: 94,669,121 (GRCm39) S41P probably damaging Het
Top1 T C 2: 160,554,637 (GRCm39) Y463H probably damaging Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Ttn A G 2: 76,576,979 (GRCm39) V24638A possibly damaging Het
Ttn A G 2: 76,701,213 (GRCm39) probably benign Het
Tyro3 G C 2: 119,647,349 (GRCm39) G826A probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,587 (GRCm39) W410R probably benign Het
Unc45a T C 7: 79,982,777 (GRCm39) K383E possibly damaging Het
Usp7 A C 16: 8,516,278 (GRCm39) probably benign Het
Vmn1r193 C T 13: 22,403,695 (GRCm39) G99D probably damaging Het
Vrk2 T C 11: 26,439,803 (GRCm39) D256G probably damaging Het
Wdr81 A G 11: 75,342,066 (GRCm39) V1067A probably damaging Het
Wiz C T 17: 32,576,655 (GRCm39) R624Q probably damaging Het
Zcwpw2 A G 9: 117,843,119 (GRCm39) noncoding transcript 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
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
R5180:Ankrd35 UTSW 3 96,587,789 (GRCm39) missense probably damaging 1.00
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'- AGCCATGAATCAGCTCCTCC -3'
(R):5'- CAAAGCTGACACCTCTTTCTCCAG -3'

Sequencing Primer
(F):5'- TCAGCTCCTCCTACAGCTAAGGG -3'
(R):5'- AGCTGTCCCTTTGCCAGG -3'
Posted On 2015-10-08