Incidental Mutation 'R4470:Tmem9'
ID 329351
Institutional Source Beutler Lab
Gene Symbol Tmem9
Ensembl Gene ENSMUSG00000026411
Gene Name transmembrane protein 9
Synonyms 1500015G18Rik
MMRRC Submission 041727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R4470 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135935957-135962768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135955234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 123 (T123A)
Ref Sequence ENSEMBL: ENSMUSP00000128185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063719] [ENSMUST00000117950] [ENSMUST00000165125]
AlphaFold Q9CR23
Predicted Effect probably benign
Transcript: ENSMUST00000063719
AA Change: T123A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065409
Gene: ENSMUSG00000026411
AA Change: T123A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Tmemb_9 41 182 1.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117950
AA Change: T123A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113416
Gene: ENSMUSG00000026411
AA Change: T123A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Tmemb_9 35 182 1.8e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118832
SMART Domains Protein: ENSMUSP00000113437
Gene: ENSMUSG00000026411

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Tmemb_9 35 182 1.8e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165125
AA Change: T123A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128185
Gene: ENSMUSG00000026411
AA Change: T123A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Tmemb_9 35 182 1.8e-79 PFAM
Meta Mutation Damage Score 0.0978 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Myzap A G 9: 71,499,563 (GRCm39) probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or4d6 T C 19: 12,086,547 (GRCm39) probably null Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tbx4 A G 11: 85,802,948 (GRCm39) I275V probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G probably damaging Het
Other mutations in Tmem9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Tmem9 APN 1 135,955,145 (GRCm39) missense probably benign 0.02
IGL02832:Tmem9 APN 1 135,947,469 (GRCm39) missense probably damaging 1.00
R0140:Tmem9 UTSW 1 135,961,900 (GRCm39) missense probably damaging 0.98
R0894:Tmem9 UTSW 1 135,961,926 (GRCm39) missense possibly damaging 0.69
R4472:Tmem9 UTSW 1 135,955,234 (GRCm39) missense probably benign 0.06
R7798:Tmem9 UTSW 1 135,961,927 (GRCm39) missense probably damaging 0.98
R7898:Tmem9 UTSW 1 135,955,125 (GRCm39) splice site probably null
R8985:Tmem9 UTSW 1 135,955,145 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGTGGTGTGCATCACTCTC -3'
(R):5'- CATCTGCAAGGGTAAAGGGC -3'

Sequencing Primer
(F):5'- CAGTCTCTAACTTGATGGTAGCCAG -3'
(R):5'- CAATTGCTGCTGTATCTTGGTGAAG -3'
Posted On 2015-07-21