Incidental Mutation 'IGL03196:Gm3127'
ID 412814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3127
Ensembl Gene ENSMUSG00000090764
Gene Name predicted gene 3127
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL03196
Quality Score
Status
Chromosome 14
Chromosomal Location 18296590-18304680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15432259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 254 (M254L)
Ref Sequence ENSEMBL: ENSMUSP00000128550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167839] [ENSMUST00000171866] [ENSMUST00000178386]
AlphaFold E9Q9P5
Predicted Effect probably benign
Transcript: ENSMUST00000167839
SMART Domains Protein: ENSMUSP00000126805
Gene: ENSMUSG00000090764

DomainStartEndE-ValueType
Pfam:Takusan 46 129 2.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171866
AA Change: M254L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128550
Gene: ENSMUSG00000090764
AA Change: M254L

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.6e-30 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178386
SMART Domains Protein: ENSMUSP00000136188
Gene: ENSMUSG00000090764

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.2e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,138,045 (GRCm39) V57A probably damaging Het
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Clic5 C A 17: 44,552,960 (GRCm39) H71Q possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cpt1b A G 15: 89,308,598 (GRCm39) V110A probably benign Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Fgf1 A T 18: 38,975,028 (GRCm39) Y140* probably null Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Lmo3 T C 6: 138,342,993 (GRCm39) T140A probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in Gm3127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02328:Gm3127 APN 14 15,424,989 (GRCm39) missense probably damaging 1.00
R6976:Gm3127 UTSW 14 15,432,190 (GRCm39) missense possibly damaging 0.53
R7168:Gm3127 UTSW 14 15,432,250 (GRCm39) missense probably benign 0.01
R7634:Gm3127 UTSW 14 15,425,787 (GRCm39) missense probably damaging 0.99
R7728:Gm3127 UTSW 14 15,425,832 (GRCm39) missense possibly damaging 0.70
R7867:Gm3127 UTSW 14 15,425,888 (GRCm39) missense probably null 0.00
Posted On 2016-08-02