Incidental Mutation 'R4154:AI593442'
ID 315048
Institutional Source Beutler Lab
Gene Symbol AI593442
Ensembl Gene ENSMUSG00000078307
Gene Name expressed sequence AI593442
Synonyms
MMRRC Submission 040998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R4154 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 52584342-52591080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52589204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 124 (H124Q)
Ref Sequence ENSEMBL: ENSMUSP00000149532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098768] [ENSMUST00000213843] [ENSMUST00000213937]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098768
AA Change: H124Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096365
Gene: ENSMUSG00000078307
AA Change: H124Q

DomainStartEndE-ValueType
low complexity region 23 43 N/A INTRINSIC
transmembrane domain 61 83 N/A INTRINSIC
low complexity region 85 95 N/A INTRINSIC
low complexity region 156 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213681
Predicted Effect probably benign
Transcript: ENSMUST00000213843
Predicted Effect probably benign
Transcript: ENSMUST00000213937
AA Change: H124Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph C T 4: 9,639,250 (GRCm39) W38* probably null Het
Bicdl2 A G 17: 23,885,066 (GRCm39) probably null Het
Chd8 T C 14: 52,444,668 (GRCm39) probably benign Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Cptp A G 4: 155,951,657 (GRCm39) V12A possibly damaging Het
Crim1 A G 17: 78,545,272 (GRCm39) I145V probably benign Het
Ctsc G A 7: 87,948,755 (GRCm39) M195I probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Fas T G 19: 34,296,228 (GRCm39) I180S possibly damaging Het
Fsip2 A C 2: 82,817,413 (GRCm39) E4382A possibly damaging Het
Galnt5 T G 2: 57,888,505 (GRCm39) L35R probably damaging Het
Gfpt2 G A 11: 49,726,605 (GRCm39) probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gm14496 A T 2: 181,636,872 (GRCm39) H110L probably benign Het
Golm1 A G 13: 59,790,167 (GRCm39) V211A probably benign Het
Gsc2 TGCAGCAGCAGCAGCAG TGCAGCAGCAGCAG 16: 17,732,666 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,722,017 (GRCm39) M7K probably benign Het
Igkv12-44 C T 6: 69,791,639 (GRCm39) C108Y possibly damaging Het
Lum T C 10: 97,404,815 (GRCm39) S237P probably damaging Het
Macf1 T C 4: 123,365,606 (GRCm39) K3052E probably damaging Het
Mdn1 A G 4: 32,707,475 (GRCm39) E1588G probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nucb2 A G 7: 116,126,902 (GRCm39) T172A probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Pard3 G T 8: 128,200,877 (GRCm39) R978L probably damaging Het
Pcdha4 A G 18: 37,086,639 (GRCm39) probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pik3c3 G A 18: 30,444,336 (GRCm39) M516I probably benign Het
Plxnb2 A G 15: 89,043,845 (GRCm39) F1336L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 G C 12: 82,471,988 (GRCm39) G1323R possibly damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Spef2 T C 15: 9,626,107 (GRCm39) K1153R probably benign Het
Strn3 C T 12: 51,673,914 (GRCm39) V566M probably damaging Het
Svep1 A G 4: 58,069,068 (GRCm39) F2906S possibly damaging Het
Tbc1d8 C T 1: 39,425,216 (GRCm39) V545M probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tnfsf8 A G 4: 63,752,595 (GRCm39) S157P probably benign Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Vat1l G C 8: 114,932,543 (GRCm39) G30R possibly damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign Het
Other mutations in AI593442
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02703:AI593442 APN 9 52,589,418 (GRCm39) missense probably damaging 1.00
R1370:AI593442 UTSW 9 52,589,308 (GRCm39) missense probably damaging 1.00
R1977:AI593442 UTSW 9 52,589,492 (GRCm39) missense probably damaging 0.99
R2118:AI593442 UTSW 9 52,588,993 (GRCm39) missense probably benign 0.00
R2248:AI593442 UTSW 9 52,589,114 (GRCm39) small deletion probably benign
R5081:AI593442 UTSW 9 52,589,114 (GRCm39) small deletion probably benign
X0002:AI593442 UTSW 9 52,589,114 (GRCm39) small deletion probably benign
Z1176:AI593442 UTSW 9 52,589,245 (GRCm39) missense probably damaging 1.00
Z1177:AI593442 UTSW 9 52,589,212 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- ACCACCGTTTGCAAAAGGC -3'
(R):5'- GTGCTGATTGTCCTGGTCACTC -3'

Sequencing Primer
(F):5'- TTTGCAAAAGGCCCTCGC -3'
(R):5'- GATTGTCCTGGTCACTCTCATC -3'
Posted On 2015-05-14