Incidental Mutation 'R1558:Ankrd36'
ID 170431
Institutional Source Beutler Lab
Gene Symbol Ankrd36
Ensembl Gene ENSMUSG00000020481
Gene Name ankyrin repeat domain 36
Synonyms GC3, 1700012M14Rik, 1700008J08Rik
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5519684-5639337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5585329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 380 (L380P)
Ref Sequence ENSEMBL: ENSMUSP00000120499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112] [ENSMUST00000137933]
AlphaFold D3Z4K0
Predicted Effect possibly damaging
Transcript: ENSMUST00000109856
AA Change: L1022P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: L1022P

DomainStartEndE-ValueType
Blast:ANK 29 62 3e-12 BLAST
ANK 66 95 4.5e-3 SMART
ANK 99 128 1.44e-1 SMART
ANK 132 161 4.6e0 SMART
ANK 165 194 2.48e-5 SMART
ANK 198 227 4.67e-1 SMART
internal_repeat_1 449 555 1.04e-5 PROSPERO
internal_repeat_1 891 981 1.04e-5 PROSPERO
low complexity region 1105 1118 N/A INTRINSIC
coiled coil region 1268 1297 N/A INTRINSIC
coiled coil region 1318 1338 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118112
AA Change: L1055P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: L1055P

DomainStartEndE-ValueType
Blast:ANK 29 62 3e-12 BLAST
ANK 66 95 2.9e-5 SMART
ANK 99 128 9.4e-4 SMART
ANK 132 161 2.9e-2 SMART
ANK 165 194 1.5e-7 SMART
ANK 198 227 2.9e-3 SMART
internal_repeat_1 255 352 8.15e-5 PROSPERO
internal_repeat_1 438 538 8.15e-5 PROSPERO
low complexity region 1138 1151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120982
Predicted Effect probably damaging
Transcript: ENSMUST00000137933
AA Change: L380P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: L380P

DomainStartEndE-ValueType
low complexity region 463 476 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown Het
Other mutations in Ankrd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ankrd36 APN 11 5,570,131 (GRCm39) missense probably benign 0.01
IGL01361:Ankrd36 APN 11 5,546,706 (GRCm39) splice site probably benign
IGL01370:Ankrd36 APN 11 5,534,019 (GRCm39) missense probably benign 0.06
IGL01384:Ankrd36 APN 11 5,578,348 (GRCm39) missense probably benign 0.33
IGL01484:Ankrd36 APN 11 5,579,006 (GRCm39) missense possibly damaging 0.90
IGL01524:Ankrd36 APN 11 5,585,092 (GRCm39) missense probably benign
IGL01700:Ankrd36 APN 11 5,582,198 (GRCm39) missense probably benign 0.05
IGL02322:Ankrd36 APN 11 5,564,619 (GRCm39) missense possibly damaging 0.86
IGL02511:Ankrd36 APN 11 5,610,845 (GRCm39) splice site probably null
IGL02824:Ankrd36 APN 11 5,524,246 (GRCm39) missense possibly damaging 0.67
IGL03204:Ankrd36 APN 11 5,534,023 (GRCm39) missense possibly damaging 0.70
PIT4508001:Ankrd36 UTSW 11 5,557,137 (GRCm39) missense possibly damaging 0.53
R0058:Ankrd36 UTSW 11 5,580,691 (GRCm39) splice site probably benign
R0058:Ankrd36 UTSW 11 5,580,691 (GRCm39) splice site probably benign
R0304:Ankrd36 UTSW 11 5,578,981 (GRCm39) missense possibly damaging 0.55
R0504:Ankrd36 UTSW 11 5,579,274 (GRCm39) missense probably damaging 0.99
R0550:Ankrd36 UTSW 11 5,557,429 (GRCm39) critical splice donor site probably null
R0563:Ankrd36 UTSW 11 5,579,322 (GRCm39) missense probably benign 0.33
R0891:Ankrd36 UTSW 11 5,637,316 (GRCm39) missense possibly damaging 0.72
R1018:Ankrd36 UTSW 11 5,596,876 (GRCm39) unclassified probably benign
R1468:Ankrd36 UTSW 11 5,525,752 (GRCm39) missense probably damaging 0.99
R1468:Ankrd36 UTSW 11 5,525,752 (GRCm39) missense probably damaging 0.99
R1663:Ankrd36 UTSW 11 5,570,126 (GRCm39) missense possibly damaging 0.70
R1682:Ankrd36 UTSW 11 5,557,143 (GRCm39) missense possibly damaging 0.84
R1898:Ankrd36 UTSW 11 5,525,683 (GRCm39) missense probably benign 0.33
R2019:Ankrd36 UTSW 11 5,639,140 (GRCm39) missense probably benign
R2032:Ankrd36 UTSW 11 5,578,616 (GRCm39) missense possibly damaging 0.86
R2084:Ankrd36 UTSW 11 5,612,378 (GRCm39) nonsense probably null
R4097:Ankrd36 UTSW 11 5,578,703 (GRCm39) missense possibly damaging 0.85
R4572:Ankrd36 UTSW 11 5,639,340 (GRCm39) splice site probably null
R4601:Ankrd36 UTSW 11 5,520,102 (GRCm39) missense probably benign 0.04
R4770:Ankrd36 UTSW 11 5,540,870 (GRCm39) missense possibly damaging 0.73
R4777:Ankrd36 UTSW 11 5,557,120 (GRCm39) missense probably benign
R4894:Ankrd36 UTSW 11 5,585,332 (GRCm39) missense probably damaging 0.98
R5288:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R5366:Ankrd36 UTSW 11 5,542,841 (GRCm39) nonsense probably null
R5384:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R5385:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R6109:Ankrd36 UTSW 11 5,578,941 (GRCm39) missense probably damaging 0.98
R6155:Ankrd36 UTSW 11 5,637,442 (GRCm39) missense probably benign 0.00
R6186:Ankrd36 UTSW 11 5,593,812 (GRCm39) missense possibly damaging 0.81
R6289:Ankrd36 UTSW 11 5,578,837 (GRCm39) missense probably damaging 0.96
R6476:Ankrd36 UTSW 11 5,578,753 (GRCm39) missense probably benign 0.05
R6816:Ankrd36 UTSW 11 5,593,765 (GRCm39) missense possibly damaging 0.66
R6880:Ankrd36 UTSW 11 5,578,748 (GRCm39) missense probably damaging 0.99
R6919:Ankrd36 UTSW 11 5,579,299 (GRCm39) missense probably benign
R7007:Ankrd36 UTSW 11 5,639,168 (GRCm39) missense probably benign 0.00
R7515:Ankrd36 UTSW 11 5,578,905 (GRCm39) missense possibly damaging 0.94
R7617:Ankrd36 UTSW 11 5,637,348 (GRCm39) missense probably benign 0.33
R7684:Ankrd36 UTSW 11 5,520,113 (GRCm39) missense possibly damaging 0.49
R7746:Ankrd36 UTSW 11 5,637,451 (GRCm39) missense possibly damaging 0.96
R7783:Ankrd36 UTSW 11 5,585,359 (GRCm39) missense probably damaging 0.99
R7790:Ankrd36 UTSW 11 5,585,176 (GRCm39) missense possibly damaging 0.80
R8221:Ankrd36 UTSW 11 5,534,016 (GRCm39) missense possibly damaging 0.53
R8671:Ankrd36 UTSW 11 5,579,312 (GRCm39) missense probably benign 0.05
R8732:Ankrd36 UTSW 11 5,578,906 (GRCm39) missense possibly damaging 0.90
R8768:Ankrd36 UTSW 11 5,593,763 (GRCm39) missense probably benign 0.00
R9026:Ankrd36 UTSW 11 5,610,696 (GRCm39) missense probably benign
R9093:Ankrd36 UTSW 11 5,589,132 (GRCm39) missense probably benign
R9211:Ankrd36 UTSW 11 5,612,370 (GRCm39) missense possibly damaging 0.85
R9300:Ankrd36 UTSW 11 5,519,979 (GRCm39) missense possibly damaging 0.84
R9644:Ankrd36 UTSW 11 5,593,835 (GRCm39) missense possibly damaging 0.90
RF004:Ankrd36 UTSW 11 5,612,411 (GRCm39) missense possibly damaging 0.53
U24488:Ankrd36 UTSW 11 5,580,772 (GRCm39) missense probably damaging 0.99
Z1176:Ankrd36 UTSW 11 5,565,538 (GRCm39) missense probably benign
Z1177:Ankrd36 UTSW 11 5,593,738 (GRCm39) missense probably damaging 0.96
Z1177:Ankrd36 UTSW 11 5,579,345 (GRCm39) missense probably benign 0.01
Z1177:Ankrd36 UTSW 11 5,521,117 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTGTCCCCTGAAGAATCCAGACC -3'
(R):5'- GCTCGTGTTCAGACCAAGAGCAAG -3'

Sequencing Primer
(F):5'- CCCATCTTTGCGTCTCAAAAAAATG -3'
(R):5'- GGAAGACATTTTTCCCTGTACC -3'
Posted On 2014-04-13