Incidental Mutation 'R7380:Tmem94'
ID 572661
Institutional Source Beutler Lab
Gene Symbol Tmem94
Ensembl Gene ENSMUSG00000020747
Gene Name transmembrane protein 94
Synonyms 2310067B10Rik
MMRRC Submission 045462-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R7380 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115656245-115689859 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 115686971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000125918]
AlphaFold Q7TSH8
Predicted Effect probably benign
Transcript: ENSMUST00000041684
SMART Domains Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471

DomainStartEndE-ValueType
ANK 2 32 1.27e3 SMART
ANK 48 77 3.01e-4 SMART
ANK 81 110 3.41e-3 SMART
ANK 114 143 1.4e-4 SMART
ANK 147 176 3.26e0 SMART
ANK 188 217 3.33e-6 SMART
ANK 220 249 4.82e-3 SMART
SH3 284 346 1.13e-6 SMART
SAM 485 551 8.53e-12 SMART
SAM 554 621 1.41e-12 SMART
low complexity region 762 774 N/A INTRINSIC
Pfam:Caskin-Pro-rich 793 883 1.4e-32 PFAM
low complexity region 904 921 N/A INTRINSIC
low complexity region 925 944 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
low complexity region 1042 1069 N/A INTRINSIC
low complexity region 1084 1090 N/A INTRINSIC
low complexity region 1120 1132 N/A INTRINSIC
Pfam:Caskin-tail 1144 1201 4.5e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000093912
SMART Domains Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747

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 null
Transcript: ENSMUST00000103033
SMART Domains Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747

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 noncoding transcript
Transcript: ENSMUST00000125658
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
Meta Mutation Damage Score 0.9503 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,700,376 (GRCm39) T9A probably benign Het
Abcc5 A T 16: 20,215,784 (GRCm39) S414R possibly damaging Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Ankib1 G T 5: 3,772,576 (GRCm39) Q487K probably benign Het
BC034090 T G 1: 155,108,229 (GRCm39) S11R probably damaging Het
Car12 A G 9: 66,654,945 (GRCm39) N125S probably benign Het
Casq1 A G 1: 172,044,416 (GRCm39) V137A probably benign Het
Cfap54 C A 10: 92,883,840 (GRCm39) V305F probably damaging Het
Clstn3 T C 6: 124,433,948 (GRCm39) E404G probably benign Het
Copg1 T G 6: 87,870,824 (GRCm39) L209R probably damaging Het
Cpb2 A T 14: 75,493,449 (GRCm39) Q42L possibly damaging Het
Cpd G A 11: 76,693,151 (GRCm39) Q712* probably null Het
Csmd3 T A 15: 47,450,361 (GRCm39) Y2690F Het
Dchs1 G T 7: 105,407,835 (GRCm39) T1999K probably benign Het
Ddx10 T A 9: 53,151,786 (GRCm39) T80S probably damaging Het
Dmtn G A 14: 70,854,768 (GRCm39) T69I probably damaging Het
Dnah5 T A 15: 28,370,524 (GRCm39) H2821Q probably damaging Het
Fam162b T A 10: 51,466,572 (GRCm39) probably benign Het
Fam193b A C 13: 55,690,612 (GRCm39) S717A probably benign Het
Far2 T C 6: 148,082,493 (GRCm39) F500L unknown Het
Focad T A 4: 88,192,435 (GRCm39) V588D unknown Het
Gm12728 T C 4: 105,651,593 (GRCm39) F68L probably damaging Het
Gm1527 T A 3: 28,974,621 (GRCm39) M478K probably benign Het
Gm57858 T A 3: 36,080,070 (GRCm39) D229V possibly damaging Het
Gpd2 A T 2: 57,230,171 (GRCm39) I308F probably damaging Het
Igf2bp3 T C 6: 49,085,933 (GRCm39) T249A probably benign Het
Igfn1 C A 1: 135,889,746 (GRCm39) V2434F probably damaging Het
Inhca G A 9: 103,156,680 (GRCm39) Q127* probably null Het
Kdm5a C A 6: 120,382,879 (GRCm39) Q737K probably benign Het
Khdrbs2 T C 1: 32,372,685 (GRCm39) S120P unknown Het
Lmx1a T C 1: 167,519,609 (GRCm39) F46L probably damaging Het
Lrba C G 3: 86,232,381 (GRCm39) T776R probably damaging Het
Lrrc8c A G 5: 105,755,701 (GRCm39) N492S possibly damaging Het
Mapk3 A T 7: 126,363,967 (GRCm39) I365F Het
Mcee A G 7: 64,061,657 (GRCm39) I153M possibly damaging Het
Mllt3 T C 4: 87,710,180 (GRCm39) D415G possibly damaging Het
Muc4 A T 16: 32,575,740 (GRCm39) T1747S unknown Het
Myh14 A T 7: 44,310,466 (GRCm39) V139E probably damaging Het
Myo10 A T 15: 25,779,706 (GRCm39) I772L probably benign Het
Naa15 T G 3: 51,367,268 (GRCm39) probably null Het
Nbeal1 T A 1: 60,283,969 (GRCm39) I841N probably damaging Het
Nf1 C T 11: 79,437,102 (GRCm39) T2006I probably damaging Het
Npr2 T A 4: 43,641,254 (GRCm39) W427R probably damaging Het
Nr1h3 A T 2: 91,020,540 (GRCm39) F324L possibly damaging Het
Obscn T C 11: 58,947,740 (GRCm39) K4430E Het
Or1e1d-ps1 T A 11: 73,819,013 (GRCm39) Y61N possibly damaging Het
Or5ac21 A G 16: 59,124,391 (GRCm39) R292G probably damaging Het
Or6c2 A T 10: 129,362,530 (GRCm39) T145S probably benign Het
Or6d13 T C 6: 116,517,894 (GRCm39) L160P probably benign Het
Osgin1 T A 8: 120,172,170 (GRCm39) H321Q probably benign Het
P4ha1 A G 10: 59,186,273 (GRCm39) I251V probably benign Het
Padi2 G A 4: 140,644,997 (GRCm39) W77* probably null Het
Pkd1 T A 17: 24,800,616 (GRCm39) I3086N probably damaging Het
Plk3 T C 4: 116,988,350 (GRCm39) N360S probably benign Het
Prr14 A T 7: 127,075,614 (GRCm39) S541C probably null Het
Ptch2 C A 4: 116,971,843 (GRCm39) Q1122K possibly damaging Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rad50 T C 11: 53,586,223 (GRCm39) I258V probably benign Het
Rapgef3 G T 15: 97,664,672 (GRCm39) R64S probably benign Het
Rbm44 A G 1: 91,079,938 (GRCm39) N42S possibly damaging Het
Ring1 T C 17: 34,240,694 (GRCm39) Y361C probably damaging Het
Robo3 T C 9: 37,329,852 (GRCm39) T1155A probably damaging Het
Rsf1 GGCGG GGCGGTGGCCGCGG 7: 97,229,122 (GRCm39) probably benign Het
Ryr3 T C 2: 112,470,502 (GRCm39) T4682A probably damaging Het
Scart1 A T 7: 139,804,790 (GRCm39) N598Y possibly damaging Het
Sema7a T C 9: 57,868,847 (GRCm39) V653A unknown Het
Slc16a13 T C 11: 70,110,105 (GRCm39) Y132C probably damaging Het
Slc24a1 A G 9: 64,855,815 (GRCm39) V364A unknown Het
Slc8a2 C T 7: 15,868,278 (GRCm39) A170V probably damaging Het
Slfn8 C T 11: 82,894,566 (GRCm39) R691Q not run Het
Snx2 T C 18: 53,327,640 (GRCm39) V122A probably benign Het
Sstr1 A T 12: 58,260,066 (GRCm39) M230L probably benign Het
Themis2 C T 4: 132,513,528 (GRCm39) V233I possibly damaging Het
Tmem106b T C 6: 13,078,167 (GRCm39) S121P probably damaging Het
Tmem63c A G 12: 87,124,722 (GRCm39) I529V probably benign Het
Trmt10c A T 16: 55,854,619 (GRCm39) W339R probably damaging Het
Ugt2b1 A T 5: 87,065,578 (GRCm39) F487Y not run Het
Vmn2r91 T A 17: 18,356,838 (GRCm39) L835* probably null Het
Vps52 C A 17: 34,177,283 (GRCm39) N108K possibly damaging Het
Wdpcp T A 11: 21,661,585 (GRCm39) C286S possibly damaging Het
Zfp959 T A 17: 56,205,551 (GRCm39) H529Q 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
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
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'- GGGACAAGTGAATCTCCCCAAG -3'
(R):5'- ATCTTGACCCAGAGGACCAG -3'

Sequencing Primer
(F):5'- CTCTTAAGAGCATCATGGGCACG -3'
(R):5'- ACCAGGTACAAGAGAAAATGTTTAC -3'
Posted On 2019-09-13