Incidental Mutation 'R6264:Tmem9b'
ID 506883
Institutional Source Beutler Lab
Gene Symbol Tmem9b
Ensembl Gene ENSMUSG00000031021
Gene Name TMEM9 domain family, member B
Synonyms D7H11orf15, ICRFP703B1614Q5.3, ICRFP703N2430Q5.3, 2310004K06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R6264 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 109335043-109351470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109344612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 75 (V75F)
Ref Sequence ENSEMBL: ENSMUSP00000121220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033333] [ENSMUST00000118571] [ENSMUST00000128043]
AlphaFold Q9JJR8
Predicted Effect probably damaging
Transcript: ENSMUST00000033333
AA Change: V72F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033333
Gene: ENSMUSG00000031021
AA Change: V72F

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Tmemb_9 55 198 6e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118571
SMART Domains Protein: ENSMUSP00000113175
Gene: ENSMUSG00000031021

DomainStartEndE-ValueType
Pfam:Tmemb_9 1 123 1.1e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128043
AA Change: V75F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121220
Gene: ENSMUSG00000031021
AA Change: V75F

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,264,824 (GRCm39) Y175H probably damaging Het
Agtpbp1 A T 13: 59,598,114 (GRCm39) V1165D possibly damaging Het
Ahsg A G 16: 22,717,611 (GRCm39) D224G probably benign Het
Akap11 T C 14: 78,749,861 (GRCm39) D842G possibly damaging Het
Anln T C 9: 22,245,413 (GRCm39) N186D possibly damaging Het
Aqr A G 2: 113,940,445 (GRCm39) Y1234H probably damaging Het
Ccdc162 A G 10: 41,570,464 (GRCm39) F7S probably benign Het
Cltc T C 11: 86,596,084 (GRCm39) Y1222C probably damaging Het
Coro2a C T 4: 46,562,912 (GRCm39) V81I probably damaging Het
Cpa5 T C 6: 30,613,984 (GRCm39) V42A probably damaging Het
D2hgdh A G 1: 93,754,177 (GRCm39) Y50C probably damaging Het
Ddx6 A G 9: 44,540,049 (GRCm39) N326D probably damaging Het
Dedd2 A G 7: 24,903,215 (GRCm39) L248P possibly damaging Het
Frem3 T A 8: 81,341,832 (GRCm39) I1375N probably damaging Het
Gm12185 T C 11: 48,807,002 (GRCm39) N63S probably benign Het
H2-Aa A G 17: 34,502,172 (GRCm39) S250P probably damaging Het
Hbs1l T C 10: 21,243,656 (GRCm39) S667P possibly damaging Het
Hc T A 2: 34,896,285 (GRCm39) probably null Het
Hoxd4 A T 2: 74,557,729 (GRCm39) Y36F possibly damaging Het
Ifi207 A G 1: 173,555,111 (GRCm39) V864A probably damaging Het
Igsf10 T A 3: 59,235,928 (GRCm39) T1418S possibly damaging Het
Klhl41 T C 2: 69,510,176 (GRCm39) probably null Het
Lman2l T C 1: 36,477,850 (GRCm39) N162S probably damaging Het
Lrr1 T G 12: 69,215,655 (GRCm39) V9G probably damaging Het
Marchf5 T C 19: 37,198,140 (GRCm39) I127T probably damaging Het
Med12l T C 3: 59,163,423 (GRCm39) L1350P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 T A 11: 68,636,241 (GRCm39) I210N probably benign Het
Myo5c A G 9: 75,182,836 (GRCm39) N825S probably benign Het
Nav3 T C 10: 109,524,694 (GRCm39) T2312A probably damaging Het
Ndrg4 G T 8: 96,436,396 (GRCm39) R208L probably damaging Het
Nell2 G A 15: 95,244,706 (GRCm39) P464S probably damaging Het
Nrxn3 T A 12: 90,299,011 (GRCm39) Y374N probably damaging Het
Oprd1 A C 4: 131,841,365 (GRCm39) C198G possibly damaging Het
Pik3ca T C 3: 32,494,863 (GRCm39) probably null Het
Plin4 T G 17: 56,411,787 (GRCm39) D748A possibly damaging Het
Pramel23 T G 4: 143,425,722 (GRCm39) T74P possibly damaging Het
Prkg2 T G 5: 99,082,223 (GRCm39) K52Q probably benign Het
Ptprk A T 10: 28,442,669 (GRCm39) E890D probably damaging Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Ranbp6 T C 19: 29,790,026 (GRCm39) T109A probably benign Het
Rarb T A 14: 16,818,819 (GRCm38) M17L probably benign Het
Rasgrf2 T C 13: 92,167,293 (GRCm39) H260R probably damaging Het
Rec8 T A 14: 55,856,636 (GRCm39) D109E probably damaging Het
Scd4 C A 19: 44,327,398 (GRCm39) S158* probably null Het
Scn7a T A 2: 66,505,870 (GRCm39) E1673V possibly damaging Het
Sit1 A T 4: 43,482,651 (GRCm39) D169E possibly damaging Het
Slc16a14 G T 1: 84,885,130 (GRCm39) Q470K probably benign Het
Slc43a2 T A 11: 75,457,900 (GRCm39) C392S possibly damaging Het
Smg1 A G 7: 117,765,310 (GRCm39) probably benign Het
Sstr2 A T 11: 113,515,932 (GRCm39) I284F probably damaging Het
Tep1 C T 14: 51,082,970 (GRCm39) V1013M probably damaging Het
Tmem120b T G 5: 123,253,763 (GRCm39) L232R probably damaging Het
Trappc3 A G 4: 126,167,731 (GRCm39) S97G probably damaging Het
Ube3c T C 5: 29,795,829 (GRCm39) F73L probably damaging Het
Vmn1r127 C A 7: 21,052,930 (GRCm39) C286F probably benign Het
Vmn1r44 T C 6: 89,870,652 (GRCm39) S133P probably benign Het
Vps8 C T 16: 21,378,099 (GRCm39) Q635* probably null Het
Vwa8 A G 14: 79,324,252 (GRCm39) E1185G possibly damaging Het
Zfp354c G A 11: 50,706,274 (GRCm39) T267I probably benign Het
Other mutations in Tmem9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02534:Tmem9b APN 7 109,336,164 (GRCm39) missense probably damaging 1.00
R1529:Tmem9b UTSW 7 109,336,156 (GRCm39) missense probably benign 0.01
R5007:Tmem9b UTSW 7 109,344,550 (GRCm39) nonsense probably null
R6229:Tmem9b UTSW 7 109,344,627 (GRCm39) critical splice acceptor site probably null
R8681:Tmem9b UTSW 7 109,344,527 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGCCATTGTTACTTCCTGG -3'
(R):5'- GGCTTCTTACAATGTCTTTGGC -3'

Sequencing Primer
(F):5'- GTTACTTCCTGGGAAACTCAAACG -3'
(R):5'- CTTCTGGAAGAACAGTCAGTGCTC -3'
Posted On 2018-03-15