Incidental Mutation 'R5583:Ankrd35'
ID 438553
Institutional Source Beutler Lab
Gene Symbol Ankrd35
Ensembl Gene ENSMUSG00000038354
Gene Name ankyrin repeat domain 35
Synonyms 4732436F15Rik
MMRRC Submission 043137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5583 (G1)
Quality Score 136
Status Validated
Chromosome 3
Chromosomal Location 96577447-96598348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96592219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 835 (R835L)
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: R835L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: R835L

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 0.3552 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,083 (GRCm39) L8Q probably damaging Het
Abca4 T C 3: 121,942,550 (GRCm39) V1681A probably damaging Het
Abce1 G T 8: 80,416,922 (GRCm39) A363E probably benign Het
Adgrl2 T C 3: 148,564,800 (GRCm39) Y256C probably damaging Het
Afm T C 5: 90,695,740 (GRCm39) C416R probably damaging Het
Ahnak T A 19: 8,984,281 (GRCm39) V1855D probably damaging Het
Alb A T 5: 90,616,452 (GRCm39) H319L probably benign Het
Atg2b T C 12: 105,615,414 (GRCm39) D1014G possibly damaging Het
Cdk6 T A 5: 3,394,436 (GRCm39) Y24N probably damaging Het
Chd7 T A 4: 8,752,473 (GRCm39) N323K probably damaging Het
Cops9 A T 1: 92,567,489 (GRCm39) probably benign Het
Crybg1 T C 10: 43,879,506 (GRCm39) T561A probably benign Het
Dcdc5 T C 2: 106,195,778 (GRCm39) noncoding transcript Het
Dnah7b G T 1: 46,281,359 (GRCm39) A2807S probably benign Het
Fam149b A G 14: 20,413,368 (GRCm39) T196A possibly damaging Het
Fam217a C A 13: 35,094,280 (GRCm39) C402F probably damaging Het
Fat2 A T 11: 55,144,715 (GRCm39) V4053E probably benign Het
Fcgbp T C 7: 27,791,004 (GRCm39) V755A probably damaging Het
Fxr1 C A 3: 34,123,125 (GRCm39) S641R probably benign Het
Gata5 A T 2: 179,976,047 (GRCm39) M39K probably benign Het
Gon4l T A 3: 88,807,278 (GRCm39) D1658E probably damaging Het
Gpr180 C T 14: 118,400,110 (GRCm39) T426M probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Helq T C 5: 100,910,459 (GRCm39) E1039G probably damaging Het
Hibch T A 1: 52,940,406 (GRCm39) Y192N probably damaging Het
Hp1bp3 A G 4: 137,949,426 (GRCm39) I41M probably damaging Het
Itpripl2 G T 7: 118,089,101 (GRCm39) P486Q probably benign Het
Kcnj6 T C 16: 94,634,060 (GRCm39) D17G probably benign Het
Kprp T A 3: 92,731,643 (GRCm39) Y469F unknown Het
Kremen2 T C 17: 23,961,229 (GRCm39) T373A probably benign Het
Lgi4 A G 7: 30,760,562 (GRCm39) Y39C possibly damaging Het
Lgr5 T C 10: 115,314,409 (GRCm39) D176G probably benign Het
Lrp1 T C 10: 127,424,332 (GRCm39) S785G probably benign Het
Ltbp1 A T 17: 75,598,325 (GRCm39) Q920L probably benign Het
Map2 A G 1: 66,455,196 (GRCm39) E1362G probably damaging Het
Nkx2-6 T C 14: 69,409,272 (GRCm39) S8P probably damaging Het
Or2h1b T C 17: 37,462,485 (GRCm39) Q126R probably benign Het
Pde4dip C T 3: 97,654,892 (GRCm39) R888Q possibly damaging Het
Per1 A G 11: 68,994,271 (GRCm39) H494R probably damaging Het
Pira2 A G 7: 3,845,545 (GRCm39) F280L probably benign Het
Plekhm3 C T 1: 64,977,145 (GRCm39) W108* probably null Het
Ptcd3 A G 6: 71,879,920 (GRCm39) S113P probably damaging Het
Scarf1 T C 11: 75,404,842 (GRCm39) L42P possibly damaging Het
Scart2 G A 7: 139,876,739 (GRCm39) C710Y probably damaging Het
Skint1 A C 4: 111,876,253 (GRCm39) Q58P probably damaging Het
Spata7 A T 12: 98,635,590 (GRCm39) N438I probably damaging Het
Spdya C A 17: 71,876,126 (GRCm39) D164E probably damaging Het
Speer3 G A 5: 13,844,782 (GRCm39) probably null Het
Ssc4d A T 5: 135,999,050 (GRCm39) L51H probably damaging Het
Steap1 A G 5: 5,790,579 (GRCm39) I123T possibly damaging Het
Styx T A 14: 45,608,483 (GRCm39) F147I possibly damaging Het
Suv39h2 T A 2: 3,475,890 (GRCm39) probably benign Het
Tfb2m A G 1: 179,373,446 (GRCm39) V84A probably benign Het
Tlcd1 T G 11: 78,069,762 (GRCm39) V25G probably benign Het
Tmem79 T C 3: 88,239,870 (GRCm39) Y280C probably damaging Het
Trim5 T A 7: 103,926,042 (GRCm39) N173I probably damaging Het
Ttc17 A T 2: 94,208,027 (GRCm39) D194E probably damaging Het
Zfp2 T C 11: 50,790,984 (GRCm39) E353G possibly damaging 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
R5180:Ankrd35 UTSW 3 96,587,789 (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'- TCAAGGTTACAGCATCCCCG -3'
(R):5'- TTTCTCGAACTGCTCCGAG -3'

Sequencing Primer
(F):5'- GTTACAGCATCCCCGCAAGTG -3'
(R):5'- TCCCGCAATCGAGTCATT -3'
Posted On 2016-10-26