Incidental Mutation 'IGL01347:Tmem145'
ID 75101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem145
Ensembl Gene ENSMUSG00000043843
Gene Name transmembrane protein 145
Synonyms B930076A02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01347
Quality Score
Status
Chromosome 7
Chromosomal Location 25005531-25015620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25014260 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Tmem145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Tmem145 APN 7 25,014,155 (GRCm39) missense possibly damaging 0.88
IGL00958:Tmem145 APN 7 25,006,782 (GRCm39) critical splice donor site probably null
IGL01936:Tmem145 APN 7 25,010,816 (GRCm39) missense probably damaging 0.97
IGL02526:Tmem145 APN 7 25,007,657 (GRCm39) missense probably benign 0.20
IGL02686:Tmem145 APN 7 25,014,150 (GRCm39) missense probably damaging 1.00
IGL03182:Tmem145 APN 7 25,014,304 (GRCm39) missense probably damaging 1.00
R0087:Tmem145 UTSW 7 25,007,268 (GRCm39) missense probably damaging 1.00
R0180:Tmem145 UTSW 7 25,014,124 (GRCm39) missense probably benign 0.05
R0329:Tmem145 UTSW 7 25,008,099 (GRCm39) splice site probably benign
R0504:Tmem145 UTSW 7 25,010,787 (GRCm39) missense probably damaging 1.00
R1488:Tmem145 UTSW 7 25,006,860 (GRCm39) splice site probably null
R1681:Tmem145 UTSW 7 25,014,159 (GRCm39) missense possibly damaging 0.95
R2352:Tmem145 UTSW 7 25,005,598 (GRCm39) missense probably benign
R3834:Tmem145 UTSW 7 25,010,786 (GRCm39) missense probably damaging 1.00
R4175:Tmem145 UTSW 7 25,008,218 (GRCm39) missense probably benign 0.04
R4414:Tmem145 UTSW 7 25,006,554 (GRCm39) missense probably damaging 1.00
R4485:Tmem145 UTSW 7 25,006,587 (GRCm39) missense possibly damaging 0.76
R4631:Tmem145 UTSW 7 25,007,250 (GRCm39) missense probably benign 0.00
R4983:Tmem145 UTSW 7 25,008,027 (GRCm39) missense probably benign 0.03
R4999:Tmem145 UTSW 7 25,008,459 (GRCm39) missense probably benign 0.04
R5772:Tmem145 UTSW 7 25,015,039 (GRCm39) missense probably benign 0.21
R5821:Tmem145 UTSW 7 25,014,946 (GRCm39) missense probably benign 0.30
R5909:Tmem145 UTSW 7 25,007,618 (GRCm39) missense possibly damaging 0.89
R6021:Tmem145 UTSW 7 25,008,270 (GRCm39) splice site probably null
R6430:Tmem145 UTSW 7 25,008,463 (GRCm39) missense possibly damaging 0.84
R6768:Tmem145 UTSW 7 25,008,061 (GRCm39) missense probably damaging 1.00
R6778:Tmem145 UTSW 7 25,010,801 (GRCm39) missense probably benign 0.04
R7428:Tmem145 UTSW 7 25,006,590 (GRCm39) critical splice donor site probably null
R7536:Tmem145 UTSW 7 25,007,294 (GRCm39) missense probably damaging 1.00
R7748:Tmem145 UTSW 7 25,006,753 (GRCm39) nonsense probably null
R7826:Tmem145 UTSW 7 25,006,939 (GRCm39) missense probably damaging 1.00
R8253:Tmem145 UTSW 7 25,006,939 (GRCm39) missense probably damaging 1.00
R8441:Tmem145 UTSW 7 25,008,200 (GRCm39) missense possibly damaging 0.62
R9129:Tmem145 UTSW 7 25,014,265 (GRCm39) missense possibly damaging 0.59
R9277:Tmem145 UTSW 7 25,009,165 (GRCm39) missense probably benign 0.14
R9297:Tmem145 UTSW 7 25,008,257 (GRCm39) missense probably damaging 1.00
Z1177:Tmem145 UTSW 7 25,009,071 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07