Incidental Mutation 'IGL02677:Tmem8b'
ID 303185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem8b
Ensembl Gene ENSMUSG00000078716
Gene Name transmembrane protein 8B
Synonyms 4930500O05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL02677
Quality Score
Status
Chromosome 4
Chromosomal Location 43668971-43692668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43686092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 241 (L241P)
Ref Sequence ENSEMBL: ENSMUSP00000129760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]
AlphaFold B1AWJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000107864
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: L241P

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
EGF 185 221 1.95e1 SMART
Pfam:DUF3522 229 415 2.1e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107865
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: L241P

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
EGF 185 221 1.95e1 SMART
Pfam:DUF3522 229 415 2.1e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107866
AA Change: L700P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: L700P

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 45 71 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 427 443 N/A INTRINSIC
EGF 606 642 1.95e1 SMART
Pfam:DUF3522 652 836 1.4e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141864
Predicted Effect probably benign
Transcript: ENSMUST00000143339
SMART Domains Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167153
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: L241P

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
EGF 185 221 1.95e1 SMART
Pfam:DUF3522 229 415 2.1e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143774
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Tmem8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:Tmem8b APN 4 43,689,434 (GRCm39) missense probably benign 0.15
IGL03090:Tmem8b APN 4 43,689,721 (GRCm39) missense probably damaging 0.99
IGL03379:Tmem8b APN 4 43,685,561 (GRCm39) missense probably benign 0.42
R0321:Tmem8b UTSW 4 43,674,444 (GRCm39) missense probably damaging 1.00
R0377:Tmem8b UTSW 4 43,674,005 (GRCm39) missense probably damaging 1.00
R0456:Tmem8b UTSW 4 43,685,618 (GRCm39) missense probably benign 0.04
R0629:Tmem8b UTSW 4 43,669,896 (GRCm39) splice site probably null
R0646:Tmem8b UTSW 4 43,690,123 (GRCm39) missense probably benign 0.01
R0690:Tmem8b UTSW 4 43,674,562 (GRCm39) missense possibly damaging 0.69
R1484:Tmem8b UTSW 4 43,690,234 (GRCm39) missense probably benign 0.01
R1558:Tmem8b UTSW 4 43,681,134 (GRCm39) missense possibly damaging 0.95
R1733:Tmem8b UTSW 4 43,690,228 (GRCm39) splice site probably null
R1999:Tmem8b UTSW 4 43,681,300 (GRCm39) missense probably damaging 0.99
R2414:Tmem8b UTSW 4 43,673,892 (GRCm39) splice site probably benign
R3799:Tmem8b UTSW 4 43,673,892 (GRCm39) splice site probably benign
R3820:Tmem8b UTSW 4 43,689,745 (GRCm39) missense probably damaging 0.99
R3821:Tmem8b UTSW 4 43,689,745 (GRCm39) missense probably damaging 0.99
R4581:Tmem8b UTSW 4 43,685,760 (GRCm39) missense probably damaging 1.00
R4852:Tmem8b UTSW 4 43,689,713 (GRCm39) missense probably damaging 0.99
R5214:Tmem8b UTSW 4 43,673,992 (GRCm39) missense probably benign 0.09
R5311:Tmem8b UTSW 4 43,673,992 (GRCm39) missense probably benign 0.09
R5448:Tmem8b UTSW 4 43,673,992 (GRCm39) missense probably benign 0.09
R5449:Tmem8b UTSW 4 43,673,992 (GRCm39) missense probably benign 0.09
R5450:Tmem8b UTSW 4 43,673,992 (GRCm39) missense probably benign 0.09
R6245:Tmem8b UTSW 4 43,690,246 (GRCm39) missense probably benign 0.14
R6615:Tmem8b UTSW 4 43,682,249 (GRCm39) missense probably damaging 1.00
R6693:Tmem8b UTSW 4 43,669,837 (GRCm39) missense probably benign 0.00
R6944:Tmem8b UTSW 4 43,674,465 (GRCm39) missense probably damaging 1.00
R6994:Tmem8b UTSW 4 43,690,192 (GRCm39) missense probably damaging 0.96
R7136:Tmem8b UTSW 4 43,669,845 (GRCm39) missense possibly damaging 0.83
R7704:Tmem8b UTSW 4 43,689,461 (GRCm39) missense probably damaging 0.96
R8048:Tmem8b UTSW 4 43,689,476 (GRCm39) missense possibly damaging 0.92
R8064:Tmem8b UTSW 4 43,690,139 (GRCm39) missense probably damaging 1.00
R9124:Tmem8b UTSW 4 43,681,982 (GRCm39) missense probably benign 0.23
R9293:Tmem8b UTSW 4 43,686,188 (GRCm39) missense probably damaging 1.00
R9447:Tmem8b UTSW 4 43,685,766 (GRCm39) missense probably damaging 1.00
R9491:Tmem8b UTSW 4 43,673,938 (GRCm39) missense probably damaging 1.00
Z1176:Tmem8b UTSW 4 43,689,710 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16