Incidental Mutation 'IGL02597:Tmem161a'
ID299890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem161a
Ensembl Gene ENSMUSG00000002342
Gene Nametransmembrane protein 161A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL02597
Quality Score
Status
Chromosome8
Chromosomal Location70172356-70183681 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70182043 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 297 (R297S)
Ref Sequence ENSEMBL: ENSMUSP00000138499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002413] [ENSMUST00000063788] [ENSMUST00000110127] [ENSMUST00000147656] [ENSMUST00000149105] [ENSMUST00000182980] [ENSMUST00000182715] [ENSMUST00000182365]
Predicted Effect probably damaging
Transcript: ENSMUST00000002413
AA Change: R449S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342
AA Change: R449S

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 478 6.8e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063788
SMART Domains Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 3.4e-23 PFAM
Pfam:Mito_carr 127 219 1.4e-26 PFAM
Pfam:Mito_carr 222 316 3.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110127
SMART Domains Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 1.6e-23 PFAM
Pfam:Mito_carr 127 219 7.2e-27 PFAM
Pfam:Mito_carr 222 317 3.3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125755
Predicted Effect probably benign
Transcript: ENSMUST00000125906
SMART Domains Protein: ENSMUSP00000137791
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 1 119 8.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143543
Predicted Effect probably benign
Transcript: ENSMUST00000147656
SMART Domains Protein: ENSMUSP00000138017
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 270 4.6e-122 PFAM
low complexity region 283 296 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000149105
AA Change: R423S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342
AA Change: R423S

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 1 95 5.1e-41 PFAM
Pfam:Tmemb_161AB 93 454 9.5e-148 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182980
AA Change: R297S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342
AA Change: R297S

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 1 328 4.6e-133 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182942
Predicted Effect probably benign
Transcript: ENSMUST00000182715
SMART Domains Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 45 3.3e-15 PFAM
low complexity region 152 165 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182365
SMART Domains Protein: ENSMUSP00000138641
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 98 3.7e-42 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Tmem161a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Tmem161a APN 8 70178974 missense probably damaging 1.00
IGL02425:Tmem161a APN 8 70176927 critical splice donor site probably null
IGL02622:Tmem161a APN 8 70181237 nonsense probably null
PIT4431001:Tmem161a UTSW 8 70182024 missense probably damaging 0.99
R0498:Tmem161a UTSW 8 70180973 missense probably benign 0.00
R1881:Tmem161a UTSW 8 70180785 missense probably null 1.00
R1970:Tmem161a UTSW 8 70176909 missense probably damaging 1.00
R1971:Tmem161a UTSW 8 70176909 missense probably damaging 1.00
R2027:Tmem161a UTSW 8 70177520 missense probably damaging 1.00
R2384:Tmem161a UTSW 8 70177554 missense probably benign 0.00
R2870:Tmem161a UTSW 8 70178915 intron probably benign
R2872:Tmem161a UTSW 8 70178915 intron probably benign
R4271:Tmem161a UTSW 8 70181512 missense probably damaging 1.00
R4284:Tmem161a UTSW 8 70177426 intron probably benign
R4576:Tmem161a UTSW 8 70182063 splice site probably null
R4677:Tmem161a UTSW 8 70180947 splice site probably null
R6322:Tmem161a UTSW 8 70182114 missense probably damaging 1.00
R6823:Tmem161a UTSW 8 70181199 missense probably damaging 1.00
R7452:Tmem161a UTSW 8 70177488 missense probably damaging 1.00
R7965:Tmem161a UTSW 8 70177504 start gained probably benign
R8269:Tmem161a UTSW 8 70181958 missense probably benign 0.01
Posted On2015-04-16