Incidental Mutation 'IGL03109:Tmem94'
ID 419128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem94
Ensembl Gene ENSMUSG00000020747
Gene Name transmembrane protein 94
Synonyms 2310067B10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # IGL03109
Quality Score
Status
Chromosome 11
Chromosomal Location 115656245-115689859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115683224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 669 (K669R)
Ref Sequence ENSEMBL: ENSMUSP00000099322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000125918]
AlphaFold Q7TSH8
Predicted Effect probably damaging
Transcript: ENSMUST00000093912
AA Change: K669R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: K669R

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 probably damaging
Transcript: ENSMUST00000103033
AA Change: K669R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: K669R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,628 (GRCm39) S96R probably benign Het
Abca6 T A 11: 110,071,173 (GRCm39) H1506L probably damaging Het
Adgrg1 T A 8: 95,734,304 (GRCm39) probably benign Het
Ahi1 A G 10: 20,846,841 (GRCm39) T424A probably benign Het
Birc6 T A 17: 74,886,329 (GRCm39) S552R possibly damaging Het
Bptf T C 11: 106,952,527 (GRCm39) T2172A possibly damaging Het
Commd9 T C 2: 101,727,515 (GRCm39) V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 (GRCm39) D216V probably damaging Het
Dcbld2 A G 16: 58,276,765 (GRCm39) T519A probably benign Het
Dennd6b T C 15: 89,069,188 (GRCm39) probably benign Het
Dnah10 A G 5: 124,841,950 (GRCm39) T1369A probably benign Het
Ect2 T C 3: 27,199,121 (GRCm39) T222A possibly damaging Het
Eef2k G A 7: 120,490,949 (GRCm39) G523E probably damaging Het
Ephb2 T G 4: 136,498,855 (GRCm39) T75P probably damaging Het
Exo1 A T 1: 175,727,126 (GRCm39) N479I probably damaging Het
Fign A G 2: 63,811,006 (GRCm39) L88P possibly damaging Het
Golgb1 T A 16: 36,735,973 (GRCm39) V1740E possibly damaging Het
Icos A G 1: 61,036,856 (GRCm39) probably benign Het
Il6ra C A 3: 89,784,165 (GRCm39) G369* probably null Het
Itpr1 A G 6: 108,394,942 (GRCm39) D83G probably damaging Het
Kdm2a A G 19: 4,379,135 (GRCm39) I560T probably benign Het
Lrp1 C T 10: 127,402,514 (GRCm39) R2219H probably benign Het
Mical3 A T 6: 120,986,085 (GRCm39) C119S probably damaging Het
Mipol1 G A 12: 57,411,010 (GRCm39) R267H probably benign Het
Myrip A T 9: 120,282,790 (GRCm39) probably null Het
Nelfb G A 2: 25,091,073 (GRCm39) L542F possibly damaging Het
Nlrp4b T C 7: 10,448,873 (GRCm39) C359R probably damaging Het
Noxred1 T A 12: 87,280,212 (GRCm39) H40L probably damaging Het
Nphp1 A T 2: 127,610,089 (GRCm39) probably benign Het
Or14j8 C T 17: 38,263,378 (GRCm39) C179Y probably damaging Het
Pank3 T A 11: 35,668,501 (GRCm39) F163L probably benign Het
Pde10a T C 17: 9,148,046 (GRCm39) probably null Het
Pigc G A 1: 161,798,345 (GRCm39) R109Q possibly damaging Het
Rfc3 A G 5: 151,566,559 (GRCm39) S297P probably benign Het
Serinc1 A T 10: 57,399,165 (GRCm39) M246K probably benign Het
Slc5a8 C T 10: 88,742,278 (GRCm39) probably benign Het
Tecrl A G 5: 83,457,156 (GRCm39) probably benign Het
Tex14 A T 11: 87,434,191 (GRCm39) E119V probably damaging Het
Tnfrsf4 C A 4: 156,099,868 (GRCm39) H130Q probably damaging Het
Trav18 G A 14: 54,069,008 (GRCm39) A18T probably benign 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
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
R1926:Tmem94 UTSW 11 115,683,726 (GRCm39) missense possibly damaging 0.67
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
Posted On 2016-08-02