Incidental Mutation 'R6976:Gm3127'
ID 568376
Institutional Source Beutler Lab
Gene Symbol Gm3127
Ensembl Gene ENSMUSG00000090764
Gene Name predicted gene 3127
Synonyms
MMRRC Submission 045382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6976 (G1)
Quality Score 49.0072
Status Validated
Chromosome 14
Chromosomal Location 18296590-18304680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15432190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 231 (T231A)
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 possibly damaging
Transcript: ENSMUST00000171866
AA Change: T231A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128550
Gene: ENSMUSG00000090764
AA Change: T231A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,397,929 (GRCm39) probably null Het
Adamts4 G T 1: 171,079,877 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,669,116 (GRCm39) K2480M probably damaging Het
Ankhd1 A C 18: 36,781,307 (GRCm39) S2120R probably benign Het
Ash1l T A 3: 88,888,964 (GRCm39) V281E possibly damaging Het
Bdh1 G A 16: 31,256,847 (GRCm39) A35T probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cel G A 2: 28,446,854 (GRCm39) S439F probably damaging Het
Dnah11 T C 12: 118,162,378 (GRCm39) S64G probably benign Het
Dpp7 T C 2: 25,244,836 (GRCm39) probably null Het
Fam83c T A 2: 155,672,157 (GRCm39) Y426F possibly damaging Het
Fasn A G 11: 120,710,693 (GRCm39) I322T probably damaging Het
Glod4 A G 11: 76,134,406 (GRCm39) F22S probably damaging Het
Gm49383 A G 12: 69,243,730 (GRCm39) S444P possibly damaging Het
Gnaz T C 10: 74,827,268 (GRCm39) S7P possibly damaging Het
Grin2b C T 6: 135,757,198 (GRCm39) S421N probably benign Het
Grm1 T C 10: 10,564,924 (GRCm39) D1128G probably benign Het
Hoxb13 A G 11: 96,087,044 (GRCm39) T284A probably benign Het
Il9r G A 11: 32,143,177 (GRCm39) Q260* probably null Het
Lrrfip1 T A 1: 91,042,737 (GRCm39) C381S probably benign Het
Mitd1 A T 1: 37,921,778 (GRCm39) D85E probably benign Het
Muc4 G A 16: 32,582,892 (GRCm39) D2556N possibly damaging Het
Nlrc4 A G 17: 74,752,934 (GRCm39) I483T probably damaging Het
Or13e8 A G 4: 43,697,170 (GRCm39) M1T probably null Het
Or2ag17 A T 7: 106,389,434 (GRCm39) M258K probably damaging Het
Or8g4 A G 9: 39,662,540 (GRCm39) N286S probably damaging Het
Pcdhb7 C A 18: 37,476,631 (GRCm39) A589E probably benign Het
Pcdhgb5 G A 18: 37,864,321 (GRCm39) E39K probably damaging Het
Pja2 T C 17: 64,615,954 (GRCm39) K314E probably damaging Het
Plcb1 A G 2: 135,104,159 (GRCm39) E276G possibly damaging Het
Ppp2r5c A G 12: 110,510,579 (GRCm39) E122G probably damaging Het
Prrc2c A T 1: 162,520,413 (GRCm39) N732K probably damaging Het
Rb1cc1 T A 1: 6,333,126 (GRCm39) D1348E probably benign Het
Sh3rf1 G T 8: 61,814,766 (GRCm39) E442* probably null Het
Snapc1 A G 12: 74,016,974 (GRCm39) D204G probably damaging Het
Sry C T Y: 2,662,938 (GRCm39) D241N unknown Het
Strn4 T A 7: 16,564,279 (GRCm39) M303K probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tnni3k A G 3: 154,498,413 (GRCm39) Y809H probably benign Het
Tnpo3 A T 6: 29,572,594 (GRCm39) C419* probably null Het
Trpm6 T C 19: 18,760,527 (GRCm39) S143P probably benign Het
Ttc23l A T 15: 10,537,666 (GRCm39) C201* probably null Het
Ubr4 A G 4: 139,120,388 (GRCm39) N271S probably damaging Het
Vmn1r70 T C 7: 10,367,971 (GRCm39) M134T probably benign Het
Vmn2r27 C T 6: 124,201,312 (GRCm39) W215* probably null Het
Xirp1 A T 9: 119,846,984 (GRCm39) M633K probably damaging Het
Zfp174 T C 16: 3,665,804 (GRCm39) I23T possibly damaging Het
Zfp536 T A 7: 37,179,828 (GRCm39) S926C probably damaging Het
Zfp943 T C 17: 22,209,922 (GRCm39) S65P possibly damaging Het
Other mutations in Gm3127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02328:Gm3127 APN 14 15,424,989 (GRCm39) missense probably damaging 1.00
IGL03196:Gm3127 APN 14 15,432,259 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GGGATGCACGGTATGATCTCAG -3'
(R):5'- TGCCCAGCAGCTCTTAATGTG -3'

Sequencing Primer
(F):5'- CACGGTATGATCTCAGCTGATAG -3'
(R):5'- AGCAGCTCTTAATGTGTCTCAG -3'
Posted On 2019-07-11