Incidental Mutation 'R7867:Gm3127'
ID 607869
Institutional Source Beutler Lab
Gene Symbol Gm3127
Ensembl Gene ENSMUSG00000090764
Gene Name predicted gene 3127
Synonyms
MMRRC Submission 045919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7867 (G1)
Quality Score 200.009
Status Not validated
Chromosome 14
Chromosomal Location 18296590-18304680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15425888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 98 (T98S)
Ref Sequence ENSEMBL: ENSMUSP00000128550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167839] [ENSMUST00000171866] [ENSMUST00000178386]
AlphaFold E9Q9P5
Predicted Effect probably null
Transcript: ENSMUST00000167839
AA Change: T98S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126805
Gene: ENSMUSG00000090764
AA Change: T98S

DomainStartEndE-ValueType
Pfam:Takusan 46 129 2.8e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171866
AA Change: T98S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128550
Gene: ENSMUSG00000090764
AA Change: T98S

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.6e-30 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178386
AA Change: T98S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136188
Gene: ENSMUSG00000090764
AA Change: T98S

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.2e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,212,139 (GRCm39) probably null Het
Abcf1 C A 17: 36,272,890 (GRCm39) K252N probably damaging Het
Abi3 C T 11: 95,724,851 (GRCm39) A211T possibly damaging Het
Acaca A T 11: 84,140,350 (GRCm39) D608V possibly damaging Het
Akap10 A G 11: 61,791,272 (GRCm39) Y396H probably damaging Het
Ap3b1 C G 13: 94,619,771 (GRCm39) S778W unknown Het
Arb2a T C 13: 78,050,837 (GRCm39) M165T probably benign Het
Baat G A 4: 49,502,925 (GRCm39) L66F probably benign Het
Cachd1 A G 4: 100,845,759 (GRCm39) N981S probably damaging Het
Cacna1c C T 6: 118,753,407 (GRCm39) R243H Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Cinp A G 12: 110,840,557 (GRCm39) V198A probably benign Het
Clec4d T C 6: 123,244,123 (GRCm39) probably null Het
Cnn3 A G 3: 121,248,704 (GRCm39) I204V probably benign Het
Cpxm2 C A 7: 131,650,800 (GRCm39) G620V probably damaging Het
Ctrl A C 8: 106,659,497 (GRCm39) S93A probably benign Het
Cyp2d34 A G 15: 82,501,425 (GRCm39) V301A possibly damaging Het
Dnaaf5 G T 5: 139,147,565 (GRCm39) K376N probably damaging Het
Eno2 C T 6: 124,740,137 (GRCm39) D300N probably damaging Het
Entrep3 T A 3: 89,093,083 (GRCm39) Y280* probably null Het
Fam117b T A 1: 60,014,046 (GRCm39) N440K probably damaging Het
Fam131a A G 16: 20,514,584 (GRCm39) S62G probably benign Het
Fancm T A 12: 65,163,240 (GRCm39) probably null Het
Fancm A G 12: 65,165,173 (GRCm39) D1506G probably benign Het
Fhad1 C A 4: 141,632,902 (GRCm39) V1201L probably benign Het
Gdpd4 T A 7: 97,623,185 (GRCm39) C265* probably null Het
Gpsm1 A T 2: 26,230,448 (GRCm39) D466V probably benign Het
Gramd1a T G 7: 30,842,992 (GRCm39) K76Q probably damaging Het
Gstp3 T C 19: 4,108,808 (GRCm39) D24G probably damaging Het
Kalrn G A 16: 33,810,161 (GRCm39) T2531I possibly damaging Het
Klk7 C A 7: 43,462,333 (GRCm39) D108E probably damaging Het
Klkb1 A G 8: 45,740,002 (GRCm39) S97P probably damaging Het
Krt13 T C 11: 100,012,008 (GRCm39) D105G probably damaging Het
Lingo2 T A 4: 35,709,302 (GRCm39) H226L probably benign Het
Lrba T C 3: 86,275,896 (GRCm39) S1755P probably damaging Het
Marf1 A G 16: 13,946,470 (GRCm39) V1217A probably damaging Het
Mtss1 A T 15: 58,842,858 (GRCm39) V118E possibly damaging Het
Mug1 T A 6: 121,850,593 (GRCm39) D696E probably benign Het
Ndufa3 C T 7: 3,623,003 (GRCm39) P56L probably damaging Het
Nop56 T A 2: 130,120,205 (GRCm39) C471S possibly damaging Het
Obscn T A 11: 58,891,652 (GRCm39) H6960L unknown Het
Or13a22 C T 7: 140,073,049 (GRCm39) T166I probably benign Het
Pcdhb10 A C 18: 37,546,619 (GRCm39) Q565P probably benign Het
Pde6g T A 11: 120,338,953 (GRCm39) H79L possibly damaging Het
Phrf1 G T 7: 140,836,524 (GRCm39) M265I unknown Het
Pkd2 T C 5: 104,630,986 (GRCm39) F470S probably damaging Het
Plekhm1 T A 11: 103,271,153 (GRCm39) D446V probably damaging Het
Prkaca A T 8: 84,721,963 (GRCm39) T325S probably benign Het
Proz A T 8: 13,111,027 (GRCm39) probably benign Het
Pten T C 19: 32,792,894 (GRCm39) F238L probably benign Het
Ptpn21 G A 12: 98,671,435 (GRCm39) L198F probably damaging Het
Rbm5 A T 9: 107,628,930 (GRCm39) S394T probably benign Het
Scaf8 T G 17: 3,227,994 (GRCm39) S408A unknown Het
Slc41a3 T A 6: 90,617,909 (GRCm39) F312I probably damaging Het
Soat2 T A 15: 102,059,598 (GRCm39) probably null Het
Sorcs1 C A 19: 50,218,698 (GRCm39) G595* probably null Het
Spopfm1 G C 3: 94,173,154 (GRCm39) S50T probably benign Het
Stox1 G T 10: 62,500,723 (GRCm39) D612E probably benign Het
Suco T C 1: 161,665,365 (GRCm39) I530M possibly damaging Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Thbd G A 2: 148,249,664 (GRCm39) A68V probably damaging Het
Tmem109 A T 19: 10,855,466 (GRCm39) M4K unknown Het
Tmub1 G C 5: 24,651,664 (GRCm39) P85R possibly damaging Het
Tnk2 A C 16: 32,500,053 (GRCm39) Q1039H probably damaging Het
Tpm3 T C 3: 89,993,775 (GRCm39) L89S probably damaging Het
Unc13b C T 4: 43,232,573 (GRCm39) R432* probably null Het
Vmn2r59 T A 7: 41,661,707 (GRCm39) I703F probably damaging Het
Xylt1 T A 7: 117,074,749 (GRCm39) I122N probably benign Het
Zc3h12c T C 9: 52,055,248 (GRCm39) E187G probably 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
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
Predicted Primers PCR Primer
(F):5'- GGGCCATCAAGTATGCAAACTC -3'
(R):5'- TTGACAGCAACAACCAGATTG -3'

Sequencing Primer
(F):5'- GGCCATCAAGTATGCAAACTCATTTG -3'
(R):5'- GATTGCAAGCACCCCAAGGTC -3'
Posted On 2019-12-20