Incidental Mutation 'R1926:Tmem94'
ID 213462
Institutional Source Beutler Lab
Gene Symbol Tmem94
Ensembl Gene ENSMUSG00000020747
Gene Name transmembrane protein 94
Synonyms 2310067B10Rik
MMRRC Submission 039944-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R1926 (G1)
Quality Score 183
Status Not validated
Chromosome 11
Chromosomal Location 115656245-115689859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115683726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 713 (V713A)
Ref Sequence ENSEMBL: ENSMUSP00000099322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000125918]
AlphaFold Q7TSH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000093912
AA Change: V713A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: V713A

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 94 113 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 217 226 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
low complexity region 397 407 N/A INTRINSIC
low complexity region 460 470 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 920 929 N/A INTRINSIC
SCOP:d1eula_ 979 1282 6e-10 SMART
transmembrane domain 1310 1332 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103033
AA Change: V713A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: V713A

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 94 113 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 217 226 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
low complexity region 397 407 N/A INTRINSIC
low complexity region 460 470 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 920 929 N/A INTRINSIC
low complexity region 1096 1109 N/A INTRINSIC
Pfam:Cation_ATPase_C 1120 1334 5.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125918
SMART Domains Protein: ENSMUSP00000116666
Gene: ENSMUSG00000020747

DomainStartEndE-ValueType
low complexity region 105 115 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175989
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 C T 7: 119,376,359 (GRCm39) T362M probably damaging Het
Ang6 A G 14: 44,239,695 (GRCm39) V11A possibly damaging Het
Ankrd17 A G 5: 90,392,028 (GRCm39) Y1880H probably damaging Het
Bmi1 A G 2: 18,687,084 (GRCm39) I55V probably benign Het
Bnipl G A 3: 95,150,354 (GRCm39) T297M probably damaging Het
Bpifa2 T C 2: 153,855,669 (GRCm39) V198A probably benign Het
Brms1l G T 12: 55,909,946 (GRCm39) V239F possibly damaging Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Ces1c A G 8: 93,854,232 (GRCm39) F101S possibly damaging Het
Cpb2 T C 14: 75,479,837 (GRCm39) Y15H probably benign Het
Dglucy A T 12: 100,833,414 (GRCm39) N535I possibly damaging Het
Dop1a C A 9: 86,405,072 (GRCm39) H1763Q probably damaging Het
Dpy19l1 C T 9: 24,385,120 (GRCm39) M236I probably benign Het
Efna2 T C 10: 80,022,710 (GRCm39) Y85H probably damaging Het
Eipr1 A T 12: 28,914,836 (GRCm39) probably null Het
Eln A T 5: 134,735,421 (GRCm39) Y787* probably null Het
Erbb2 G C 11: 98,315,990 (GRCm39) E364D probably benign Het
F5 A G 1: 164,007,077 (GRCm39) T294A probably damaging Het
Fam47e A G 5: 92,733,244 (GRCm39) T194A possibly damaging Het
Galk1 T C 11: 115,901,073 (GRCm39) D202G probably damaging Het
Glb1l2 T C 9: 26,682,362 (GRCm39) D163G probably damaging Het
Gmip A G 8: 70,268,170 (GRCm39) E408G probably benign Het
Gp1ba A T 11: 70,531,715 (GRCm39) probably benign Het
Grm3 A T 5: 9,554,881 (GRCm39) C804S probably damaging Het
Gzmd A G 14: 56,367,737 (GRCm39) C179R probably damaging Het
Hadhb T A 5: 30,385,935 (GRCm39) L415Q possibly damaging Het
Ift80 T C 3: 68,823,498 (GRCm39) Y588C probably damaging Het
Jazf1 T C 6: 53,045,516 (GRCm39) T13A probably benign Het
Kat8 T A 7: 127,514,467 (GRCm39) Y67* probably null Het
Kcnab1 G A 3: 65,283,933 (GRCm39) E384K possibly damaging Het
Lhx3 A T 2: 26,092,200 (GRCm39) Y230* probably null Het
Lmx1b T A 2: 33,454,674 (GRCm39) M365L probably damaging Het
Ly6k G T 15: 74,669,051 (GRCm39) P76Q probably benign Het
Lypd10 G A 7: 24,413,541 (GRCm39) G186R probably damaging Het
Map1b A T 13: 99,567,200 (GRCm39) H1840Q unknown Het
Map3k2 A G 18: 32,336,163 (GRCm39) I117V probably damaging Het
Med13 C A 11: 86,179,899 (GRCm39) A1350S possibly damaging Het
Midn T C 10: 79,987,495 (GRCm39) S109P probably damaging Het
Msh6 A G 17: 88,293,653 (GRCm39) T803A probably benign Het
Nckap1 T C 2: 80,337,182 (GRCm39) Y1018C probably damaging Het
Ndufc1 A T 3: 51,314,816 (GRCm39) N63K probably benign Het
Neb A T 2: 52,169,647 (GRCm39) S1811R probably damaging Het
Notch1 T C 2: 26,371,669 (GRCm39) D260G probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Oas1g T C 5: 121,017,205 (GRCm39) K283R probably benign Het
Obscn T C 11: 58,954,300 (GRCm39) T4037A Het
Or6b1 T G 6: 42,815,247 (GRCm39) L144R probably damaging Het
Or6b3 A G 1: 92,439,330 (GRCm39) L140P probably damaging Het
Otop2 A T 11: 115,217,781 (GRCm39) T206S probably benign Het
Pamr1 A G 2: 102,471,342 (GRCm39) probably null Het
Pkp1 G A 1: 135,805,411 (GRCm39) T675I probably benign Het
Plxna2 G A 1: 194,444,758 (GRCm39) V717I probably benign Het
Ptgs2 T C 1: 149,975,979 (GRCm39) L2P possibly damaging Het
Rarg A G 15: 102,147,980 (GRCm39) F277S probably damaging Het
Rassf5 A T 1: 131,140,076 (GRCm39) I161N probably damaging Het
Resf1 C T 6: 149,230,902 (GRCm39) T1316I probably benign Het
Rxfp4 A G 3: 88,559,659 (GRCm39) V264A probably benign Het
Secisbp2l T A 2: 125,582,597 (GRCm39) Q953L probably damaging Het
Serpinb9c T C 13: 33,334,218 (GRCm39) I275V probably benign Het
Slc2a12 T C 10: 22,541,141 (GRCm39) V332A probably damaging Het
Slc7a1 T C 5: 148,285,113 (GRCm39) S127G probably damaging Het
Slc7a4 A T 16: 17,393,568 (GRCm39) V77E probably damaging Het
Sp8 G A 12: 118,812,964 (GRCm39) S273N possibly damaging Het
Spag6l G T 16: 16,580,921 (GRCm39) N475K probably benign Het
St18 A G 1: 6,872,913 (GRCm39) H216R probably benign Het
Tcirg1 C T 19: 3,952,843 (GRCm39) probably benign Het
Tmeff1 A G 4: 48,658,788 (GRCm39) Y87C probably damaging Het
Tnrc6b G T 15: 80,765,363 (GRCm39) R955L probably damaging Het
Trip12 A G 1: 84,727,012 (GRCm39) V1153A probably damaging Het
Tshz3 T C 7: 36,468,800 (GRCm39) L263S probably damaging Het
Tubb6 G A 18: 67,534,391 (GRCm39) probably null Het
Ube3a T C 7: 58,926,127 (GRCm39) W302R probably damaging Het
Vcpkmt A T 12: 69,629,519 (GRCm39) V81E probably damaging Het
Vmn1r175 T A 7: 23,508,466 (GRCm39) I54F possibly damaging Het
Vwa8 T A 14: 79,258,075 (GRCm39) N741K probably benign Het
Yeats2 A G 16: 20,033,176 (GRCm39) T1034A probably benign Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp207 T A 11: 80,286,253 (GRCm39) Y424* probably null Het
Zfp729a A G 13: 67,767,676 (GRCm39) V851A probably benign Het
Zkscan1 G T 5: 138,099,625 (GRCm39) A450S probably benign Het
Zkscan3 A G 13: 21,580,616 (GRCm39) V24A possibly damaging Het
Other mutations in Tmem94
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Tmem94 APN 11 115,686,154 (GRCm39) missense probably damaging 0.99
IGL01086:Tmem94 APN 11 115,681,110 (GRCm39) missense probably benign 0.25
IGL01314:Tmem94 APN 11 115,680,835 (GRCm39) missense probably damaging 0.99
IGL02123:Tmem94 APN 11 115,678,364 (GRCm39) missense possibly damaging 0.51
IGL02355:Tmem94 APN 11 115,685,571 (GRCm39) missense probably damaging 1.00
IGL02362:Tmem94 APN 11 115,685,571 (GRCm39) missense probably damaging 1.00
IGL02366:Tmem94 APN 11 115,688,258 (GRCm39) missense probably damaging 0.98
IGL02450:Tmem94 APN 11 115,683,897 (GRCm39) missense probably damaging 1.00
IGL02623:Tmem94 APN 11 115,687,227 (GRCm39) nonsense probably null
IGL02816:Tmem94 APN 11 115,679,530 (GRCm39) splice site probably null
IGL02836:Tmem94 APN 11 115,683,765 (GRCm39) missense probably damaging 1.00
IGL03061:Tmem94 APN 11 115,683,247 (GRCm39) missense possibly damaging 0.94
IGL03109:Tmem94 APN 11 115,683,224 (GRCm39) missense probably damaging 1.00
IGL03255:Tmem94 APN 11 115,682,894 (GRCm39) unclassified probably benign
IGL03397:Tmem94 APN 11 115,678,394 (GRCm39) unclassified probably benign
capitulate UTSW 11 115,687,572 (GRCm39) missense probably damaging 1.00
R0083:Tmem94 UTSW 11 115,687,550 (GRCm39) unclassified probably benign
R0336:Tmem94 UTSW 11 115,678,211 (GRCm39) missense probably benign
R0370:Tmem94 UTSW 11 115,679,543 (GRCm39) missense probably damaging 1.00
R0494:Tmem94 UTSW 11 115,685,607 (GRCm39) splice site probably null
R0638:Tmem94 UTSW 11 115,682,886 (GRCm39) splice site probably null
R0647:Tmem94 UTSW 11 115,687,621 (GRCm39) missense probably damaging 1.00
R0900:Tmem94 UTSW 11 115,682,804 (GRCm39) missense probably benign 0.00
R1469:Tmem94 UTSW 11 115,685,917 (GRCm39) unclassified probably benign
R1616:Tmem94 UTSW 11 115,686,971 (GRCm39) critical splice donor site probably null
R1621:Tmem94 UTSW 11 115,676,671 (GRCm39) missense probably benign
R1682:Tmem94 UTSW 11 115,681,056 (GRCm39) missense probably damaging 1.00
R1723:Tmem94 UTSW 11 115,685,574 (GRCm39) missense probably damaging 1.00
R1760:Tmem94 UTSW 11 115,687,580 (GRCm39) missense probably damaging 1.00
R1826:Tmem94 UTSW 11 115,684,039 (GRCm39) nonsense probably null
R1956:Tmem94 UTSW 11 115,679,500 (GRCm39) missense possibly damaging 0.75
R2033:Tmem94 UTSW 11 115,685,154 (GRCm39) missense possibly damaging 0.65
R2135:Tmem94 UTSW 11 115,685,575 (GRCm39) missense probably benign
R2419:Tmem94 UTSW 11 115,687,641 (GRCm39) missense probably damaging 1.00
R2511:Tmem94 UTSW 11 115,682,787 (GRCm39) missense probably damaging 1.00
R3932:Tmem94 UTSW 11 115,680,080 (GRCm39) missense probably benign 0.00
R4708:Tmem94 UTSW 11 115,677,121 (GRCm39) missense possibly damaging 0.87
R4812:Tmem94 UTSW 11 115,686,938 (GRCm39) nonsense probably null
R5026:Tmem94 UTSW 11 115,683,930 (GRCm39) missense probably damaging 1.00
R5714:Tmem94 UTSW 11 115,684,016 (GRCm39) missense probably benign 0.04
R5716:Tmem94 UTSW 11 115,683,254 (GRCm39) missense probably benign 0.17
R6180:Tmem94 UTSW 11 115,681,857 (GRCm39) critical splice acceptor site probably null
R6295:Tmem94 UTSW 11 115,687,572 (GRCm39) missense probably damaging 1.00
R6594:Tmem94 UTSW 11 115,689,112 (GRCm39) missense probably damaging 1.00
R6696:Tmem94 UTSW 11 115,682,814 (GRCm39) missense probably damaging 1.00
R6883:Tmem94 UTSW 11 115,687,287 (GRCm39) missense probably damaging 1.00
R6939:Tmem94 UTSW 11 115,676,656 (GRCm39) missense possibly damaging 0.47
R7060:Tmem94 UTSW 11 115,683,764 (GRCm39) missense probably damaging 1.00
R7171:Tmem94 UTSW 11 115,681,781 (GRCm39) splice site probably null
R7181:Tmem94 UTSW 11 115,685,600 (GRCm39) missense probably damaging 0.97
R7290:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7292:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7345:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7346:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7378:Tmem94 UTSW 11 115,685,000 (GRCm39) missense probably damaging 1.00
R7380:Tmem94 UTSW 11 115,686,971 (GRCm39) critical splice donor site probably null
R7460:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7461:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7463:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7464:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7465:Tmem94 UTSW 11 115,677,082 (GRCm39) missense possibly damaging 0.54
R7673:Tmem94 UTSW 11 115,679,204 (GRCm39) missense probably benign 0.05
R7995:Tmem94 UTSW 11 115,688,797 (GRCm39) missense probably damaging 1.00
R8094:Tmem94 UTSW 11 115,679,218 (GRCm39) critical splice donor site probably null
R8447:Tmem94 UTSW 11 115,688,696 (GRCm39) missense probably benign
R8447:Tmem94 UTSW 11 115,688,023 (GRCm39) missense possibly damaging 0.93
R8825:Tmem94 UTSW 11 115,688,201 (GRCm39) missense probably benign 0.00
R8910:Tmem94 UTSW 11 115,688,252 (GRCm39) missense probably damaging 1.00
R9226:Tmem94 UTSW 11 115,683,191 (GRCm39) missense probably damaging 1.00
RF003:Tmem94 UTSW 11 115,686,958 (GRCm39) missense probably damaging 1.00
X0024:Tmem94 UTSW 11 115,677,079 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- ATTCCATGGTGGCTCACTGAC -3'
(R):5'- CTTGTAGGCAAAGGCAGAGC -3'

Sequencing Primer
(F):5'- TGGCTCACTGACCGGGAG -3'
(R):5'- CTGGTAGAAGTCCAGCACTTTC -3'
Posted On 2014-07-14