Incidental Mutation 'R1148:AC149051.1'
ID 165203
Institutional Source Beutler Lab
Gene Symbol AC149051.1
Ensembl Gene
Gene Name
Synonyms
MMRRC Submission 039221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R1148 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location
Type of Mutation missense
DNA Base Change (assembly) A to G at 64379889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 981 (L981P)
Ref Sequence ENSEMBL: ENSMUSP00000136323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179944]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000179944
AA Change: L981P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: L981P

DomainStartEndE-ValueType
coiled coil region 54 113 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
low complexity region 163 172 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
internal_repeat_1 528 618 9.12e-8 PROSPERO
internal_repeat_1 713 809 9.12e-8 PROSPERO
low complexity region 1009 1024 N/A INTRINSIC
low complexity region 1059 1081 N/A INTRINSIC
low complexity region 1112 1126 N/A INTRINSIC
low complexity region 1130 1148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210915
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Alg10b T C 15: 90,112,068 (GRCm39) F304S possibly damaging Het
Ank3 C T 10: 69,718,369 (GRCm39) S540F probably damaging Het
Arhgef16 T C 4: 154,365,346 (GRCm39) N590D probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bbs9 T C 9: 22,486,396 (GRCm39) probably benign Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Cilp T A 9: 65,187,598 (GRCm39) L1231Q possibly damaging Het
Coq8a G A 1: 179,996,968 (GRCm39) probably benign Het
Cyp4x1 A G 4: 114,983,752 (GRCm39) probably benign Het
Dars1 T C 1: 128,294,646 (GRCm39) probably benign Het
Disp2 G A 2: 118,636,899 (GRCm39) probably null Het
Dnah5 T C 15: 28,421,836 (GRCm39) L3896P probably damaging Het
Dpp8 T C 9: 64,961,114 (GRCm39) probably null Het
Esp4 A C 17: 40,913,262 (GRCm39) N43T probably benign Het
Fat3 T C 9: 15,908,070 (GRCm39) D2644G probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Homo
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Lonp2 A G 8: 87,363,168 (GRCm39) E262G probably benign Het
Ly6h G T 15: 75,437,021 (GRCm39) S118R unknown Het
Mapk12 T C 15: 89,018,826 (GRCm39) Y203C probably damaging Het
Mapk15 A G 15: 75,870,004 (GRCm39) T375A probably benign Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or5g9 C A 2: 85,552,620 (GRCm39) Y290* probably null Het
Osbpl11 T C 16: 33,047,582 (GRCm39) F515S probably damaging Het
Pcdh15 T C 10: 74,006,392 (GRCm39) V90A probably damaging Het
Ptpn4 T A 1: 119,603,439 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,612,270 (GRCm39) D41G probably damaging Het
Rbm4b A G 19: 4,807,527 (GRCm39) H81R probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sh3d19 A G 3: 86,014,634 (GRCm39) D475G possibly damaging Het
Shprh T C 10: 11,089,226 (GRCm39) S1655P possibly damaging Het
Slc25a12 G A 2: 71,142,912 (GRCm39) probably benign Het
Strc A G 2: 121,202,558 (GRCm39) probably benign Het
Trp53rka C A 2: 165,334,961 (GRCm39) probably benign Het
Ttc22 G A 4: 106,480,228 (GRCm39) V161M probably damaging Het
Unc79 T C 12: 103,078,926 (GRCm39) L1504P probably damaging Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Wnk1 A G 6: 119,928,967 (GRCm39) probably benign Het
Wsb2 T C 5: 117,508,742 (GRCm39) probably benign Het
Predicted Primers PCR Primer
(F):5'- GGGATTATGAGTGCCTGCCGTTATC -3'
(R):5'- AGTGGACTAACCTGCCAAAGAAGC -3'

Sequencing Primer
(F):5'- GGTAGCGAACTCTTACACATACTG -3'
(R):5'- AGCAGAAACCAATCGTTGTG -3'
Posted On 2014-03-28