Incidental Mutation 'R2419:Tmem62'
ID 249121
Institutional Source Beutler Lab
Gene Symbol Tmem62
Ensembl Gene ENSMUSG00000054484
Gene Name transmembrane protein 62
Synonyms B830009D23Rik
MMRRC Submission 040381-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R2419 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120807498-120838333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120837586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 501 (G501E)
Ref Sequence ENSEMBL: ENSMUSP00000106314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000067582] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000110686] [ENSMUST00000139428] [ENSMUST00000171260]
AlphaFold Q8BXJ9
Predicted Effect probably benign
Transcript: ENSMUST00000060455
SMART Domains Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 50 318 4.2e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067582
AA Change: G631E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: G631E

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Metallophos 56 261 7.3e-11 PFAM
transmembrane domain 430 452 N/A INTRINSIC
transmembrane domain 479 501 N/A INTRINSIC
transmembrane domain 530 552 N/A INTRINSIC
transmembrane domain 573 595 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083949
Predicted Effect probably benign
Transcript: ENSMUST00000099488
SMART Domains Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 50 311 4.8e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099489
SMART Domains Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 3 271 3.7e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110686
AA Change: G501E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: G501E

DomainStartEndE-ValueType
transmembrane domain 300 322 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
transmembrane domain 400 422 N/A INTRINSIC
transmembrane domain 443 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135599
Predicted Effect probably benign
Transcript: ENSMUST00000139428
SMART Domains Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SCOP:d1utea_ 59 274 9e-9 SMART
low complexity region 308 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171260
SMART Domains Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 52 309 4.7e-74 PFAM
Meta Mutation Damage Score 0.0978 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acyp2 T C 11: 30,582,316 (GRCm39) Y33C probably benign Het
Ampd3 A G 7: 110,367,576 (GRCm39) probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Arl4d A T 11: 101,557,714 (GRCm39) Q80L probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Ccdc38 T A 10: 93,384,837 (GRCm39) V35D probably benign Het
Cd6 G A 19: 10,770,216 (GRCm39) P492S probably damaging Het
Cdh20 G A 1: 104,902,740 (GRCm39) S477N possibly damaging Het
Cnmd G A 14: 79,875,488 (GRCm39) P311S probably damaging Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Dusp18 T C 11: 3,847,018 (GRCm39) S3P possibly damaging Het
Eml2 A G 7: 18,910,620 (GRCm39) probably benign Het
Foxb2 G C 19: 16,850,325 (GRCm39) A227G probably damaging Het
Hey1 A G 3: 8,731,003 (GRCm39) probably null Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kcna2 G A 3: 107,011,469 (GRCm39) G17R probably benign Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Leng9 A G 7: 4,151,626 (GRCm39) V350A probably benign Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Lrat A G 3: 82,810,992 (GRCm39) S10P probably damaging Het
Lrrk2 C A 15: 91,681,729 (GRCm39) probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Met T C 6: 17,535,829 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,884 (GRCm39) V342A probably benign Het
Nup210 G A 6: 90,994,538 (GRCm39) probably benign Het
Or1i2 T A 10: 78,448,221 (GRCm39) I85F probably benign Het
Or1j12 T A 2: 36,343,338 (GRCm39) V247E probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Phc3 T C 3: 31,005,027 (GRCm39) M189V probably damaging Het
Plcb1 A G 2: 135,104,020 (GRCm39) probably benign Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Rbbp5 T C 1: 132,421,564 (GRCm39) I88T possibly damaging Het
Rfpl4b T C 10: 38,697,368 (GRCm39) R78G probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Sdad1 T C 5: 92,453,677 (GRCm39) H37R possibly damaging Het
Setd2 T A 9: 110,378,065 (GRCm39) F627I possibly damaging Het
Ski A G 4: 155,245,350 (GRCm39) S293P probably benign Het
Slc27a1 A G 8: 72,032,560 (GRCm39) E191G possibly damaging Het
Snx18 T C 13: 113,753,755 (GRCm39) M393V possibly damaging Het
Spata31g1 A G 4: 42,974,146 (GRCm39) T1160A possibly damaging Het
Tacc1 A G 8: 25,672,829 (GRCm39) V42A possibly damaging Het
Tbc1d8 A G 1: 39,415,983 (GRCm39) F897L probably damaging Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem94 A G 11: 115,687,641 (GRCm39) K1167E probably damaging Het
Trap1 A G 16: 3,886,194 (GRCm39) S88P probably benign Het
Ugt2b38 T C 5: 87,571,591 (GRCm39) D147G probably damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Zcchc14 T A 8: 122,330,675 (GRCm39) Q896L probably damaging Het
Zfp619 A G 7: 39,185,307 (GRCm39) K446E possibly damaging Het
Zpr1 T C 9: 46,187,490 (GRCm39) probably benign Het
Other mutations in Tmem62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Tmem62 APN 2 120,837,445 (GRCm39) splice site probably null
IGL01011:Tmem62 APN 2 120,809,700 (GRCm39) missense possibly damaging 0.48
IGL02125:Tmem62 APN 2 120,826,993 (GRCm39) missense probably benign 0.01
IGL02430:Tmem62 APN 2 120,817,143 (GRCm39) missense probably damaging 1.00
R0031:Tmem62 UTSW 2 120,829,594 (GRCm39) missense probably benign 0.00
R0535:Tmem62 UTSW 2 120,833,077 (GRCm39) missense possibly damaging 0.88
R1597:Tmem62 UTSW 2 120,814,843 (GRCm39) missense probably benign 0.01
R1656:Tmem62 UTSW 2 120,837,483 (GRCm39) missense probably benign 0.36
R1682:Tmem62 UTSW 2 120,837,538 (GRCm39) missense probably benign 0.32
R1702:Tmem62 UTSW 2 120,809,708 (GRCm39) missense probably damaging 1.00
R1755:Tmem62 UTSW 2 120,814,958 (GRCm39) critical splice donor site probably null
R1886:Tmem62 UTSW 2 120,817,151 (GRCm39) missense probably damaging 0.99
R1943:Tmem62 UTSW 2 120,817,107 (GRCm39) missense probably benign 0.10
R2151:Tmem62 UTSW 2 120,817,343 (GRCm39) missense probably damaging 1.00
R3034:Tmem62 UTSW 2 120,809,605 (GRCm39) splice site probably benign
R3782:Tmem62 UTSW 2 120,807,948 (GRCm39) missense probably damaging 1.00
R4326:Tmem62 UTSW 2 120,810,991 (GRCm39) missense probably damaging 1.00
R4328:Tmem62 UTSW 2 120,810,991 (GRCm39) missense probably damaging 1.00
R4620:Tmem62 UTSW 2 120,826,845 (GRCm39) intron probably benign
R5168:Tmem62 UTSW 2 120,824,088 (GRCm39) missense probably benign 0.16
R5625:Tmem62 UTSW 2 120,820,874 (GRCm39) missense probably damaging 1.00
R6057:Tmem62 UTSW 2 120,807,943 (GRCm39) missense probably damaging 0.98
R6386:Tmem62 UTSW 2 120,829,595 (GRCm39) missense probably benign 0.00
R7038:Tmem62 UTSW 2 120,824,058 (GRCm39) missense possibly damaging 0.87
R7182:Tmem62 UTSW 2 120,835,224 (GRCm39) missense probably benign 0.08
R7569:Tmem62 UTSW 2 120,837,411 (GRCm39) missense probably benign
R7607:Tmem62 UTSW 2 120,826,921 (GRCm39) missense probably benign 0.00
R7849:Tmem62 UTSW 2 120,814,853 (GRCm39) missense probably benign 0.01
R8353:Tmem62 UTSW 2 120,814,817 (GRCm39) missense probably damaging 0.99
R8531:Tmem62 UTSW 2 120,837,533 (GRCm39) missense probably damaging 0.99
R8944:Tmem62 UTSW 2 120,817,316 (GRCm39) critical splice acceptor site probably null
R9218:Tmem62 UTSW 2 120,835,224 (GRCm39) missense probably benign 0.08
R9448:Tmem62 UTSW 2 120,808,211 (GRCm39) missense probably damaging 1.00
R9597:Tmem62 UTSW 2 120,829,567 (GRCm39) missense probably benign 0.23
X0052:Tmem62 UTSW 2 120,824,009 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCACAGCTTCAGGTCTC -3'
(R):5'- TCAGATGTCCAAGGAGTGACTG -3'

Sequencing Primer
(F):5'- AGGTCTCATCTCCACCAGG -3'
(R):5'- ATGTCCAAGGAGTGACTGCTTCC -3'
Posted On 2014-11-12