Incidental Mutation 'R4391:Gm382'
ID 326385
Institutional Source Beutler Lab
Gene Symbol Gm382
Ensembl Gene ENSMUSG00000062791
Gene Name predicted gene 382
Synonyms LOC211208
MMRRC Submission 041682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4391 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 125947595-125971609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125968942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 376 (S376T)
Ref Sequence ENSEMBL: ENSMUSP00000094056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096332]
AlphaFold B1AXN3
Predicted Effect probably benign
Transcript: ENSMUST00000096332
AA Change: S376T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000094056
Gene: ENSMUSG00000062791
AA Change: S376T

DomainStartEndE-ValueType
KH 351 416 4.04e-3 SMART
KH 421 489 2.98e-1 SMART
KH 493 562 2.26e-6 SMART
KH 567 635 1.55e-13 SMART
KH 639 708 1.12e-1 SMART
KH 713 782 7.82e-10 SMART
KH 786 855 1.73e-2 SMART
KH 859 957 1.28e-5 SMART
KH 958 1024 9.48e-9 SMART
KH 1036 1106 1.18e-4 SMART
KH 1110 1178 6.11e-12 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 91.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik A T 12: 31,234,622 (GRCm39) noncoding transcript Het
Actn2 C T 13: 12,305,634 (GRCm39) R394Q probably damaging Het
Atg16l1 A G 1: 87,687,842 (GRCm39) D62G probably damaging Het
Atp2b1 A G 10: 98,839,076 (GRCm39) T635A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Dnah1 G A 14: 31,016,792 (GRCm39) T1575I probably damaging Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnajc12 A G 10: 63,242,838 (GRCm39) T37A probably benign Het
Efcab5 T A 11: 76,981,284 (GRCm39) N1354I probably damaging Het
Epas1 T C 17: 87,117,091 (GRCm39) L218P probably benign Het
Fbxw15 T A 9: 109,397,300 (GRCm39) probably benign Het
Filip1l C A 16: 57,391,155 (GRCm39) S581* probably null Het
Focad T A 4: 88,104,195 (GRCm39) I358K probably damaging Het
Gpsm1 C T 2: 26,214,009 (GRCm39) R179C probably damaging Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Krt39 C T 11: 99,405,578 (GRCm39) A441T probably benign Het
Nrdc T A 4: 108,903,841 (GRCm39) N662K probably damaging Het
Obox5 C T 7: 15,491,899 (GRCm39) Q105* probably null Het
Or56a3b T A 7: 104,770,793 (GRCm39) M43K possibly damaging Het
Or5af1 T A 11: 58,722,841 (GRCm39) V287D possibly damaging Het
Or8c13 A T 9: 38,091,645 (GRCm39) V158D probably damaging Het
Pcdhb5 T A 18: 37,455,789 (GRCm39) L723Q possibly damaging Het
Pou3f3 G T 1: 42,736,618 (GRCm39) A105S unknown Het
Ppp1r3d C T 2: 178,055,880 (GRCm39) D41N probably damaging Het
Ppp4r1 A G 17: 66,131,749 (GRCm39) N497S probably benign Het
Rad54b T G 4: 11,615,570 (GRCm39) N859K probably benign Het
Sh3bp2 C T 5: 34,707,062 (GRCm39) S29L probably benign Het
Smarcad1 A T 6: 65,033,443 (GRCm39) N142I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Stat3 G A 11: 100,796,378 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,576 (GRCm39) R77G probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Xlr3a T C X: 72,135,450 (GRCm39) I87V possibly damaging Het
Other mutations in Gm382
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Gm382 APN X 125,971,238 (GRCm39) missense probably damaging 1.00
IGL00594:Gm382 APN X 125,970,775 (GRCm39) missense probably benign 0.32
IGL00768:Gm382 APN X 125,968,366 (GRCm39) nonsense probably null
IGL03193:Gm382 APN X 125,971,321 (GRCm39) missense probably damaging 1.00
IGL03285:Gm382 APN X 125,969,318 (GRCm39) missense possibly damaging 0.93
R2128:Gm382 UTSW X 125,970,274 (GRCm39) missense possibly damaging 0.81
X0026:Gm382 UTSW X 125,969,770 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GAAGATTCAACAGGACAGTCAC -3'
(R):5'- TGGACACCCAGAGATTCTCC -3'

Sequencing Primer
(F):5'- GATTCAACAGGACAGTCACAATCAG -3'
(R):5'- AGAGATTCTCCCTCAATTCTGATTG -3'
Posted On 2015-07-06