Incidental Mutation 'R4326:Tmem62'
ID 324351
Institutional Source Beutler Lab
Gene Symbol Tmem62
Ensembl Gene ENSMUSG00000054484
Gene Name transmembrane protein 62
Synonyms B830009D23Rik
MMRRC Submission 041096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4326 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120807498-120838333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120810991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 156 (N156K)
Ref Sequence ENSEMBL: ENSMUSP00000118808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067582] [ENSMUST00000110686] [ENSMUST00000139428]
AlphaFold Q8BXJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000067582
AA Change: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: N156K

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 probably damaging
Transcript: ENSMUST00000110686
AA Change: N26K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: N26K

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: ENSMUST00000123656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130010
Predicted Effect probably damaging
Transcript: ENSMUST00000139428
AA Change: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484
AA Change: N156K

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 noncoding transcript
Transcript: ENSMUST00000147347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196757
Meta Mutation Damage Score 0.5528 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A G 3: 121,555,119 (GRCm39) V616A probably benign Het
Abhd17a A G 10: 80,419,884 (GRCm39) S241P probably benign Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Armc3 A G 2: 19,305,284 (GRCm39) K681E probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atxn1 T C 13: 46,119,443 (GRCm39) probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Capn13 C A 17: 73,638,103 (GRCm39) K433N probably benign Het
Ccdc113 G A 8: 96,283,896 (GRCm39) M323I probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Dnah8 G A 17: 30,971,066 (GRCm39) V2707M probably benign Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Gid4 G A 11: 60,308,662 (GRCm39) V61M possibly damaging Het
Glt28d2 G A 3: 85,779,393 (GRCm39) Q27* probably null Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Isx A G 8: 75,600,284 (GRCm39) I6V probably benign Het
Itsn1 A G 16: 91,650,743 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Krt80 C T 15: 101,250,189 (GRCm39) V19M possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Lmo7 A T 14: 102,137,510 (GRCm39) E504D possibly damaging Het
Lpcat4 G A 2: 112,076,737 (GRCm39) E454K probably benign Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Noxo1 G A 17: 24,917,937 (GRCm39) R81H probably benign Het
Or10ab4 T C 7: 107,654,362 (GRCm39) Y58H probably damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak1ip1 A G 13: 41,158,232 (GRCm39) D35G possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Ppp2r2d T A 7: 138,470,214 (GRCm39) V25D probably damaging Het
Prdm15 G T 16: 97,607,715 (GRCm39) N709K probably damaging Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rrs1 G T 1: 9,616,566 (GRCm39) R273L possibly damaging Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
Spen T G 4: 141,204,683 (GRCm39) N1315H unknown Het
Ssrp1 A G 2: 84,870,561 (GRCm39) probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Syne2 C A 12: 75,999,516 (GRCm39) A2304E probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Wdr90 G T 17: 26,072,705 (GRCm39) R884S probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign Het
Zfta A G 19: 7,398,591 (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
R2419:Tmem62 UTSW 2 120,837,586 (GRCm39) missense probably damaging 0.98
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
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'- CTGAACAAAATTACAATGTGCCTAC -3'
(R):5'- TTCTATGTACCAACTGCAACCAAAG -3'

Sequencing Primer
(F):5'- AATGTGCCTACTATTCTCCGGTATG -3'
(R):5'- GTGAGTTCCAGGCCATTTCAGC -3'
Posted On 2015-06-24