Incidental Mutation 'IGL01347:Tmem145'
ID75101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem145
Ensembl Gene ENSMUSG00000043843
Gene Nametransmembrane protein 145
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL01347
Quality Score
Status
Chromosome7
Chromosomal Location25306106-25316195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25314835 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 458 (N458S)
Ref Sequence ENSEMBL: ENSMUSP00000104046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108409] [ENSMUST00000119703] [ENSMUST00000128119]
Predicted Effect probably damaging
Transcript: ENSMUST00000108409
AA Change: N458S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: N458S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:GpcrRhopsn4 157 411 7.5e-81 PFAM
low complexity region 486 503 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119703
AA Change: N444S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: N444S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:GpcrRhopsn4 143 397 4.3e-81 PFAM
low complexity region 478 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128119
SMART Domains Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CUB 33 140 1.24e-15 SMART
EGF 141 170 4.26e0 SMART
EGF 173 203 2.43e1 SMART
Pfam:Kelch_4 227 277 1.3e-11 PFAM
Pfam:Kelch_3 240 287 1.6e-7 PFAM
low complexity region 320 341 N/A INTRINSIC
low complexity region 517 531 N/A INTRINSIC
low complexity region 728 738 N/A INTRINSIC
PSI 847 899 1.37e0 SMART
low complexity region 932 938 N/A INTRINSIC
PSI 949 991 2.11e-2 SMART
PSI 1005 1073 7.82e-1 SMART
EGF_CA 1074 1115 2.62e-9 SMART
EGF 1117 1160 5.4e-2 SMART
EGF_like 1163 1208 4e-1 SMART
EGF_Lam 1211 1259 1.03e-7 SMART
Blast:CUB 1263 1401 1e-30 BLAST
EGF_like 1406 1445 3.29e1 SMART
Pfam:Kelch_4 1509 1564 6.5e-12 PFAM
Pfam:Kelch_3 1520 1574 1.2e-10 PFAM
PSI 1868 1923 2.75e-1 SMART
PSI 2004 2062 1.6e0 SMART
PSI 2064 2121 1.68e-5 SMART
EGF 2125 2164 1.08e-1 SMART
EGF 2166 2194 4.26e0 SMART
EGF 2204 2244 2.2e1 SMART
EGF_like 2248 2321 6.37e-1 SMART
low complexity region 2493 2504 N/A INTRINSIC
low complexity region 2530 2541 N/A INTRINSIC
transmembrane domain 2592 2614 N/A INTRINSIC
low complexity region 2649 2668 N/A INTRINSIC
low complexity region 2674 2702 N/A INTRINSIC
low complexity region 2759 2774 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205639
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Tmem145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Tmem145 APN 7 25314730 missense possibly damaging 0.88
IGL00958:Tmem145 APN 7 25307357 critical splice donor site probably null
IGL01936:Tmem145 APN 7 25311391 missense probably damaging 0.97
IGL02526:Tmem145 APN 7 25308232 missense probably benign 0.20
IGL02686:Tmem145 APN 7 25314725 missense probably damaging 1.00
IGL03182:Tmem145 APN 7 25314879 missense probably damaging 1.00
R0087:Tmem145 UTSW 7 25307843 missense probably damaging 1.00
R0180:Tmem145 UTSW 7 25314699 missense probably benign 0.05
R0329:Tmem145 UTSW 7 25308674 splice site probably benign
R0504:Tmem145 UTSW 7 25311362 missense probably damaging 1.00
R1488:Tmem145 UTSW 7 25307435 splice site probably null
R1681:Tmem145 UTSW 7 25314734 missense possibly damaging 0.95
R2352:Tmem145 UTSW 7 25306173 missense probably benign
R3834:Tmem145 UTSW 7 25311361 missense probably damaging 1.00
R4175:Tmem145 UTSW 7 25308793 missense probably benign 0.04
R4414:Tmem145 UTSW 7 25307129 missense probably damaging 1.00
R4485:Tmem145 UTSW 7 25307162 missense possibly damaging 0.76
R4631:Tmem145 UTSW 7 25307825 missense probably benign 0.00
R4983:Tmem145 UTSW 7 25308602 missense probably benign 0.03
R4999:Tmem145 UTSW 7 25309034 missense probably benign 0.04
R5772:Tmem145 UTSW 7 25315614 missense probably benign 0.21
R5821:Tmem145 UTSW 7 25315521 missense probably benign 0.30
R5909:Tmem145 UTSW 7 25308193 missense possibly damaging 0.89
R6021:Tmem145 UTSW 7 25308845 splice site probably null
R6430:Tmem145 UTSW 7 25309038 missense possibly damaging 0.84
R6768:Tmem145 UTSW 7 25308636 missense probably damaging 1.00
R6778:Tmem145 UTSW 7 25311376 missense probably benign 0.04
R7428:Tmem145 UTSW 7 25307165 critical splice donor site probably null
R7536:Tmem145 UTSW 7 25307869 missense probably damaging 1.00
R7748:Tmem145 UTSW 7 25307328 nonsense probably null
R7826:Tmem145 UTSW 7 25307514 missense probably damaging 1.00
R8253:Tmem145 UTSW 7 25307514 missense probably damaging 1.00
R8441:Tmem145 UTSW 7 25308775 missense not run
Z1177:Tmem145 UTSW 7 25309646 missense probably damaging 1.00
Posted On2013-10-07