Incidental Mutation 'IGL02269:Tmem45b'
ID 287076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem45b
Ensembl Gene ENSMUSG00000041737
Gene Name transmembrane protein 45b
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02269
Quality Score
Status
Chromosome 9
Chromosomal Location 31337492-31375758 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 31339279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 145 (C145*)
Ref Sequence ENSEMBL: ENSMUSP00000149691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048050] [ENSMUST00000213807] [ENSMUST00000217007]
AlphaFold Q8VCZ2
Predicted Effect probably null
Transcript: ENSMUST00000048050
AA Change: C231*
SMART Domains Protein: ENSMUSP00000042313
Gene: ENSMUSG00000041737
AA Change: C231*

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Pfam:DUF716 117 238 2.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213807
Predicted Effect probably null
Transcript: ENSMUST00000217007
AA Change: C145*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,833,425 (GRCm39) V59A unknown Het
A2ml1 C A 6: 128,530,301 (GRCm39) probably benign Het
Akap13 G A 7: 75,252,659 (GRCm39) R263H probably benign Het
B3galt5 A G 16: 96,116,730 (GRCm39) D121G possibly damaging Het
Becn1 A G 11: 101,182,361 (GRCm39) probably benign Het
Carmil1 A T 13: 24,339,393 (GRCm39) L150* probably null Het
Cep170 A T 1: 176,596,932 (GRCm39) M475K probably benign Het
Cyp24a1 C T 2: 170,338,492 (GRCm39) G68D probably damaging Het
Cyp3a44 A T 5: 145,742,547 (GRCm39) I18N probably benign Het
Dmrt2 T C 19: 25,655,823 (GRCm39) V474A probably benign Het
Dtnb A G 12: 3,646,691 (GRCm39) D64G probably damaging Het
Epb41l3 T C 17: 69,554,568 (GRCm39) S223P probably damaging Het
Ephb2 A G 4: 136,498,360 (GRCm39) Y240H possibly damaging Het
Extl3 T C 14: 65,315,032 (GRCm39) Y50C probably damaging Het
Fat3 A C 9: 15,826,873 (GRCm39) S4360A possibly damaging Het
Fbxo9 A T 9: 77,994,835 (GRCm39) V230E probably damaging Het
Frmd4a T C 2: 4,609,045 (GRCm39) M971T probably benign Het
Gm7275 A G 16: 47,894,185 (GRCm39) noncoding transcript Het
Hyal6 C T 6: 24,740,858 (GRCm39) T337I probably damaging Het
Obsl1 C T 1: 75,464,357 (GRCm39) V1650M probably damaging Het
Or1j13 A T 2: 36,369,579 (GRCm39) S188T possibly damaging Het
Or52z14 T A 7: 103,253,089 (GRCm39) I76N probably damaging Het
Or7e169 A T 9: 19,757,024 (GRCm39) I297N possibly damaging Het
Or8c8 A T 9: 38,165,232 (GRCm39) D173V possibly damaging Het
Pcdh7 A C 5: 58,070,664 (GRCm39) E1114A probably damaging Het
Pde8a C T 7: 80,958,550 (GRCm39) probably benign Het
Pdzrn4 A T 15: 92,667,731 (GRCm39) S628C probably damaging Het
Pear1 C T 3: 87,663,571 (GRCm39) G376S probably damaging Het
Plekha6 C T 1: 133,215,587 (GRCm39) T644M possibly damaging Het
Plpp1 T A 13: 112,993,526 (GRCm39) C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 (GRCm39) T793M possibly damaging Het
Rdh13 A T 7: 4,448,497 (GRCm39) L5Q possibly damaging Het
Rimbp2 G T 5: 128,851,359 (GRCm39) D862E probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scamp1 C T 13: 94,368,694 (GRCm39) probably benign Het
Scamp3 A G 3: 89,088,041 (GRCm39) T178A probably benign Het
Sh3tc1 A G 5: 35,863,628 (GRCm39) V853A probably benign Het
Snrnp200 C T 2: 127,071,911 (GRCm39) T1197M possibly damaging Het
Sult3a1 T C 10: 33,755,259 (GRCm39) F275L probably benign Het
Tenm4 A T 7: 96,473,029 (GRCm39) I905F probably damaging Het
Tgm3 T A 2: 129,866,438 (GRCm39) S119T probably benign Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Unc5c G A 3: 141,494,743 (GRCm39) R352H probably damaging Het
Vmn2r12 A G 5: 109,234,343 (GRCm39) L623P probably damaging Het
Vmn2r68 T C 7: 84,870,947 (GRCm39) M779V possibly damaging Het
Zfhx2 T C 14: 55,309,393 (GRCm39) N902S probably benign Het
Other mutations in Tmem45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Tmem45b UTSW 9 31,338,188 (GRCm39) missense probably benign 0.01
R0689:Tmem45b UTSW 9 31,339,879 (GRCm39) missense probably benign 0.05
R1845:Tmem45b UTSW 9 31,342,651 (GRCm39) missense probably damaging 0.99
R1874:Tmem45b UTSW 9 31,340,383 (GRCm39) missense probably damaging 1.00
R2147:Tmem45b UTSW 9 31,340,277 (GRCm39) missense probably benign 0.01
R4584:Tmem45b UTSW 9 31,339,951 (GRCm39) missense probably damaging 1.00
R5308:Tmem45b UTSW 9 31,340,380 (GRCm39) missense probably damaging 0.97
R5472:Tmem45b UTSW 9 31,339,340 (GRCm39) missense possibly damaging 0.94
R6564:Tmem45b UTSW 9 31,339,301 (GRCm39) missense probably damaging 1.00
R7140:Tmem45b UTSW 9 31,345,780 (GRCm39) splice site probably null
R7145:Tmem45b UTSW 9 31,340,337 (GRCm39) missense probably damaging 1.00
R7154:Tmem45b UTSW 9 31,339,328 (GRCm39) missense possibly damaging 0.88
R7419:Tmem45b UTSW 9 31,339,334 (GRCm39) missense probably benign 0.01
Z1088:Tmem45b UTSW 9 31,339,323 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16