Incidental Mutation 'R7783:Ankrd36'
ID 599390
Institutional Source Beutler Lab
Gene Symbol Ankrd36
Ensembl Gene ENSMUSG00000020481
Gene Name ankyrin repeat domain 36
Synonyms GC3, 1700012M14Rik, 1700008J08Rik
MMRRC Submission 045839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 5519684-5639337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5585359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 390 (L390P)
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: L1032P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: L1032P

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: L1065P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: L1065P

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 probably damaging
Transcript: ENSMUST00000137933
AA Change: L390P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: L390P

DomainStartEndE-ValueType
low complexity region 463 476 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,875 (GRCm39) Y447* probably null Het
Abl2 T C 1: 156,386,641 (GRCm39) V8A probably benign Het
Adam33 C T 2: 130,900,257 (GRCm39) R103K unknown Het
Adamts13 G T 2: 26,880,597 (GRCm39) A727S not run Het
Ajm1 A T 2: 25,467,820 (GRCm39) L697Q probably damaging Het
Alpk2 A T 18: 65,439,325 (GRCm39) C689* probably null Het
Amt C T 9: 108,174,414 (GRCm39) Q60* probably null Het
Ankrd12 A G 17: 66,334,245 (GRCm39) probably null Het
Ankrd28 A T 14: 31,428,770 (GRCm39) N920K probably damaging Het
Arvcf T G 16: 18,207,063 (GRCm39) H7Q probably benign Het
Asns A G 6: 7,677,978 (GRCm39) S367P probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
C7 T A 15: 5,037,192 (GRCm39) H562L probably benign Het
Ccdc77 T C 6: 120,327,334 (GRCm39) D37G probably damaging Het
Cdc14a C T 3: 116,198,236 (GRCm39) A58T probably damaging Het
Cdc42bpb C T 12: 111,302,459 (GRCm39) probably null Het
Cilk1 G T 9: 78,042,927 (GRCm39) V51F probably damaging Het
Corin A T 5: 72,458,967 (GRCm39) F1068L probably benign Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Ercc3 T A 18: 32,381,296 (GRCm39) S371T probably damaging Het
Fam193a A C 5: 34,588,524 (GRCm39) K358Q probably damaging Het
Fem1a G A 17: 56,564,522 (GRCm39) C205Y probably benign Het
Fh1 G A 1: 175,439,744 (GRCm39) T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gabra6 T C 11: 42,207,289 (GRCm39) N265S probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Grm6 T A 11: 50,753,909 (GRCm39) C738S probably damaging Het
Gtsf1 C T 15: 103,336,996 (GRCm39) probably benign Het
Hcrtr2 T A 9: 76,140,196 (GRCm39) Y364F probably damaging Het
Ifit1bl1 T C 19: 34,571,336 (GRCm39) I374V probably benign Het
Il31ra A T 13: 112,677,785 (GRCm39) F250L probably benign Het
Iqgap1 A G 7: 80,458,807 (GRCm39) V37A probably benign Het
Izumo3 A T 4: 92,033,260 (GRCm39) I182K probably damaging Het
Kidins220 G A 12: 25,038,555 (GRCm39) A36T probably damaging Het
Lrrtm1 G T 6: 77,221,236 (GRCm39) R231L probably damaging Het
Mical2 A T 7: 112,012,183 (GRCm39) S678C probably damaging Het
Mme T G 3: 63,272,288 (GRCm39) F629C probably damaging Het
Muc5b T A 7: 141,411,078 (GRCm39) H1341Q unknown Het
Or13a28 A G 7: 140,217,637 (GRCm39) T8A possibly damaging Het
Or13p5 T A 4: 118,592,099 (GRCm39) D124E probably damaging Het
Or2y1e A G 11: 49,219,029 (GRCm39) S264G probably benign Het
Or5e1 A T 7: 108,354,776 (GRCm39) T238S probably damaging Het
Or5p70 A G 7: 107,995,296 (GRCm39) H323R probably benign Het
Parm1 A T 5: 91,741,724 (GRCm39) M31L probably benign Het
Pcdhb18 G A 18: 37,622,874 (GRCm39) C68Y probably benign Het
Pkn3 A T 2: 29,969,634 (GRCm39) E35V probably damaging Het
Pla2g4a A T 1: 149,748,495 (GRCm39) Y238N probably damaging Het
Pld6 T C 11: 59,678,097 (GRCm39) D122G probably damaging Het
Prag1 G T 8: 36,570,409 (GRCm39) A331S possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Rps6kc1 A G 1: 190,505,851 (GRCm39) V1037A probably benign Het
Slc12a7 T C 13: 73,953,588 (GRCm39) V766A probably benign Het
Spata18 A G 5: 73,825,953 (GRCm39) T87A Het
St3gal3 T C 4: 117,797,320 (GRCm39) M308V probably benign Het
Stx19 T C 16: 62,642,649 (GRCm39) L155S probably benign Het
Tespa1 A T 10: 130,192,752 (GRCm39) T145S probably damaging Het
Timm21 A C 18: 84,965,846 (GRCm39) F221V possibly damaging Het
Tlr1 A T 5: 65,082,264 (GRCm39) F771Y probably damaging Het
Tmem150a C A 6: 72,335,606 (GRCm39) L125I unknown Het
Try4 T C 6: 41,279,229 (GRCm39) L4P possibly damaging Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Txndc16 A T 14: 45,382,417 (GRCm39) N609K probably benign Het
Upf1 T C 8: 70,805,508 (GRCm39) T46A probably benign Het
Zfp266 T C 9: 20,411,626 (GRCm39) N184D probably benign Het
Zfp407 A G 18: 84,228,047 (GRCm39) V1854A possibly damaging Het
Zfp626 T A 7: 27,517,795 (GRCm39) C259S possibly damaging 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
R1558:Ankrd36 UTSW 11 5,585,329 (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
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'- CAAAGAATGTGCACCAGGAC -3'
(R):5'- GCATGCTACGTCCTTACACG -3'

Sequencing Primer
(F):5'- GGACATCCAGAAGTTCCTTCAGTG -3'
(R):5'- GCTAAGCTCGTGTTCAGACCAAG -3'
Posted On 2019-11-26