Incidental Mutation 'R7037:Tmem54'
ID568444
Institutional Source Beutler Lab
Gene Symbol Tmem54
Ensembl Gene ENSMUSG00000028786
Gene Nametransmembrane protein 54
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R7037 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location129105548-129111626 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 129110801 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000030575] [ENSMUST00000030575] [ENSMUST00000030575] [ENSMUST00000030577] [ENSMUST00000030577] [ENSMUST00000030577] [ENSMUST00000095807] [ENSMUST00000106064] [ENSMUST00000106064] [ENSMUST00000106064] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000125931] [ENSMUST00000139450] [ENSMUST00000148979] [ENSMUST00000149763] [ENSMUST00000164649]
Predicted Effect probably benign
Transcript: ENSMUST00000030572
SMART Domains Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000030575
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030575
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030575
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030577
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 200 5e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030577
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 200 5e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030577
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 200 5e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095807
SMART Domains Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106064
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 199 6.7e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106064
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 199 6.7e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106064
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 18 199 6.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116442
SMART Domains Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116444
SMART Domains Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125931
SMART Domains Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139450
SMART Domains Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148979
SMART Domains Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786

DomainStartEndE-ValueType
Pfam:BCLP 29 106 3.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149763
SMART Domains Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164649
SMART Domains Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,768,043 N33I probably damaging Het
Ahnak2 A T 12: 112,774,278 V314D probably damaging Het
Arl14epl T G 18: 46,932,443 C92G probably benign Het
Atp6v1h T A 1: 5,149,992 M423K possibly damaging Het
Baiap3 G A 17: 25,243,840 R1075C probably benign Het
Baz2b C T 2: 59,933,670 probably null Het
Bicral T C 17: 46,824,634 H550R probably benign Het
C1rl A G 6: 124,508,639 Y323C probably damaging Het
Ccr9 T A 9: 123,779,971 H239Q possibly damaging Het
Cdh16 T A 8: 104,617,635 R91* probably null Het
Coro1c A G 5: 113,845,396 F357S possibly damaging Het
Cpsf4 G A 5: 145,176,129 R141Q possibly damaging Het
Cryzl2 G A 1: 157,470,748 V236I probably damaging Het
Cttnbp2 T C 6: 18,435,118 E247G probably damaging Het
Dbr1 T A 9: 99,576,568 probably null Het
Dclk1 T C 3: 55,463,048 S23P probably damaging Het
Diexf A C 1: 193,120,723 probably null Het
Dpyd A T 3: 118,899,289 I361F probably benign Het
Elac2 A G 11: 64,983,711 E218G probably benign Het
Eml4 T A 17: 83,425,327 D136E probably benign Het
Fam198a G T 9: 121,965,526 V249L possibly damaging Het
Fam71e2 G T 7: 4,758,585 probably benign Het
Foxred1 A T 9: 35,207,548 S223T probably benign Het
Gm11595 A G 11: 99,772,648 C69R unknown Het
Gm14124 G T 2: 150,266,456 V46F possibly damaging Het
Gna14 A T 19: 16,533,764 H59L Het
H2-Ab1 T A 17: 34,267,989 I239N probably damaging Het
Ints7 T C 1: 191,619,605 S809P probably benign Het
Itgb4 T A 11: 116,005,565 Y1379* probably null Het
Kank1 A G 19: 25,430,341 D1233G probably damaging Het
Kif13a C T 13: 46,752,455 V671M possibly damaging Het
Lrrc66 A T 5: 73,607,161 D846E probably benign Het
Lyst A G 13: 13,616,666 H38R probably damaging Het
Mc3r T C 2: 172,249,634 F259L probably damaging Het
Med25 A G 7: 44,882,782 Y384H probably damaging Het
Met A T 6: 17,547,128 probably benign Het
Mmp16 T C 4: 18,116,148 V584A possibly damaging Het
Mpp5 T A 12: 78,797,199 I59N probably damaging Het
Mrgprb3 A G 7: 48,643,194 L203P probably damaging Het
Mus81 A G 19: 5,486,080 L185P probably damaging Het
Naaa A G 5: 92,277,075 V75A possibly damaging Het
Obscn T A 11: 59,043,929 T5292S probably damaging Het
Obscn T C 11: 59,052,604 S4801G probably damaging Het
Olfr703 T C 7: 106,845,336 S242P probably damaging Het
Otof T C 5: 30,381,538 D1112G probably benign Het
Pbx4 A G 8: 69,864,875 R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,499,669 probably null Het
Plce1 A T 19: 38,702,017 D715V probably damaging Het
Pms1 T C 1: 53,207,611 T311A possibly damaging Het
Popdc2 A G 16: 38,374,267 D350G probably damaging Het
Prex1 A G 2: 166,587,180 V661A probably benign Het
Ptbp2 A G 3: 119,751,908 Y130H probably damaging Het
Rev3l C T 10: 39,851,975 R2707W probably damaging Het
Rpl37 G A 15: 5,117,703 R75K probably null Het
Ryr3 T A 2: 112,949,130 R259* probably null Het
Scai A T 2: 39,190,621 S8T probably benign Het
Scn4a C A 11: 106,320,900 L1430F probably damaging Het
Sema5a A G 15: 32,686,847 K1035R probably damaging Het
Siah3 A G 14: 75,525,585 H92R probably benign Het
Smc4 G A 3: 69,018,195 V342I possibly damaging Het
Spata31d1a C T 13: 59,700,324 C1330Y possibly damaging Het
St18 C A 1: 6,803,036 H332N possibly damaging Het
Sycp1 T A 3: 102,898,934 E480D possibly damaging Het
Tex14 A T 11: 87,497,915 I323F probably damaging Het
Tm7sf2 A T 19: 6,064,077 probably null Het
Tmem241 G T 18: 12,113,406 H62Q probably benign Het
Tomm34 A G 2: 164,070,478 L39P probably damaging Het
Triml2 T A 8: 43,193,536 V354D probably damaging Het
Usp19 T C 9: 108,496,958 I738T possibly damaging Het
Utrn T A 10: 12,826,770 probably null Het
Other mutations in Tmem54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Tmem54 APN 4 129108318 missense probably benign 0.00
IGL02475:Tmem54 APN 4 129108280 missense probably damaging 1.00
IGL03107:Tmem54 APN 4 129110912 missense probably damaging 1.00
R3804:Tmem54 UTSW 4 129108220 missense probably benign 0.01
R4156:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4157:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4664:Tmem54 UTSW 4 129110911 missense possibly damaging 0.95
R4959:Tmem54 UTSW 4 129108280 missense probably damaging 1.00
R6699:Tmem54 UTSW 4 129111325 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCAAGGGTAGAGCACTATTGGC -3'
(R):5'- ATGTGAGGCCCTGTTCAGAAG -3'

Sequencing Primer
(F):5'- GCGGCCTGTACTTTTGAGAACC -3'
(R):5'- CCCTGTTCAGAAGGGGTGAG -3'
Posted On2019-07-31