Incidental Mutation 'IGL02523:Tmem41b'
ID 296954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem41b
Ensembl Gene ENSMUSG00000047554
Gene Name transmembrane protein 41B
Synonyms 1500031M19Rik, 1500015G02Rik, D7Ertd70e, D7Ertd743e
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # IGL02523
Quality Score
Status
Chromosome 7
Chromosomal Location 109571394-109586136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109581935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 56 (I56T)
Ref Sequence ENSEMBL: ENSMUSP00000119520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094097] [ENSMUST00000118429] [ENSMUST00000119929] [ENSMUST00000124821] [ENSMUST00000135565] [ENSMUST00000154831]
AlphaFold Q8K1A5
Predicted Effect probably benign
Transcript: ENSMUST00000094097
AA Change: I56T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554
AA Change: I56T

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Blast:uDENN 81 113 2e-13 BLAST
Pfam:SNARE_assoc 129 250 2.5e-26 PFAM
transmembrane domain 260 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118429
AA Change: I56T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554
AA Change: I56T

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Blast:uDENN 81 113 2e-13 BLAST
Pfam:SNARE_assoc 129 250 1.2e-24 PFAM
transmembrane domain 260 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119929
SMART Domains Protein: ENSMUSP00000113215
Gene: ENSMUSG00000047554

DomainStartEndE-ValueType
Blast:uDENN 13 48 4e-14 BLAST
Pfam:SNARE_assoc 62 183 6e-27 PFAM
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124821
AA Change: I56T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119520
Gene: ENSMUSG00000047554
AA Change: I56T

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125703
Predicted Effect possibly damaging
Transcript: ENSMUST00000135565
AA Change: I56T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121078
Gene: ENSMUSG00000047554
AA Change: I56T

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Blast:uDENN 81 113 7e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207300
Predicted Effect probably benign
Transcript: ENSMUST00000154831
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,804,984 (GRCm39) D109G probably benign Het
Ces2c C A 8: 105,574,746 (GRCm39) P68T probably damaging Het
Csl G A 10: 99,594,675 (GRCm39) T130I probably benign Het
Cyp2g1 C T 7: 26,518,612 (GRCm39) R376W probably damaging Het
Ddb1 T C 19: 10,604,996 (GRCm39) L1029P probably damaging Het
Dennd4c T C 4: 86,692,490 (GRCm39) probably benign Het
Eya2 C T 2: 165,596,356 (GRCm39) probably benign Het
Fars2 G T 13: 36,388,676 (GRCm39) G55V probably damaging Het
Fcgbp C A 7: 27,804,157 (GRCm39) A1755E possibly damaging Het
Ggt7 T A 2: 155,356,623 (GRCm39) E32V probably damaging Het
Heg1 C A 16: 33,558,992 (GRCm39) T1071K probably damaging Het
Hpca A G 4: 129,012,368 (GRCm39) F56S probably damaging Het
Hyal4 T A 6: 24,765,968 (GRCm39) Y441N probably damaging Het
Igsf8 T A 1: 172,146,980 (GRCm39) probably benign Het
Ints13 A G 6: 146,459,109 (GRCm39) S301P probably benign Het
Krt33a G A 11: 99,902,518 (GRCm39) T374I probably benign Het
Nav3 T C 10: 109,605,157 (GRCm39) D972G probably damaging Het
Npc1 T C 18: 12,334,629 (GRCm39) T708A probably benign Het
Or10ag52 A T 2: 87,043,664 (GRCm39) N143Y probably benign Het
Or13p10 A T 4: 118,523,238 (GRCm39) N175Y probably benign Het
Or1l8 T C 2: 36,817,967 (GRCm39) D53G probably damaging Het
Or6d14 A T 6: 116,534,054 (GRCm39) I223L probably benign Het
P2rx2 A G 5: 110,489,908 (GRCm39) S87P probably damaging Het
Pdxdc1 A T 16: 13,699,799 (GRCm39) L62H probably damaging Het
Plekhj1 A T 10: 80,633,683 (GRCm39) probably null Het
Ptbp2 A T 3: 119,534,136 (GRCm39) Y244* probably null Het
Ralbp1 T C 17: 66,166,086 (GRCm39) E366G probably damaging Het
Rergl T A 6: 139,473,458 (GRCm39) probably benign Het
Slc25a45 T A 19: 5,934,637 (GRCm39) probably null Het
Spop G A 11: 95,376,747 (GRCm39) D267N possibly damaging Het
Tars2 T C 3: 95,648,705 (GRCm39) D625G probably damaging Het
Tlk2 A G 11: 105,166,773 (GRCm39) K593R probably damaging Het
Tlr3 T A 8: 45,851,428 (GRCm39) probably null Het
Tmem205 C T 9: 21,832,584 (GRCm39) R109H probably benign Het
Ube2q2 T C 9: 55,099,163 (GRCm39) V168A probably damaging Het
Ufsp2 T A 8: 46,436,585 (GRCm39) M112K probably damaging Het
Wipi2 T A 5: 142,646,787 (GRCm39) V208E probably damaging Het
Xkr9 A G 1: 13,754,474 (GRCm39) E156G probably benign Het
Other mutations in Tmem41b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Tmem41b APN 7 109,577,909 (GRCm39) splice site probably benign
IGL02174:Tmem41b APN 7 109,578,003 (GRCm39) missense possibly damaging 0.89
IGL02232:Tmem41b APN 7 109,577,960 (GRCm39) missense probably damaging 0.98
R0610:Tmem41b UTSW 7 109,580,292 (GRCm39) missense probably damaging 0.99
R0610:Tmem41b UTSW 7 109,580,290 (GRCm39) missense probably benign 0.02
R0840:Tmem41b UTSW 7 109,580,256 (GRCm39) missense probably damaging 1.00
R4610:Tmem41b UTSW 7 109,573,941 (GRCm39) unclassified probably benign
R5502:Tmem41b UTSW 7 109,581,970 (GRCm39) nonsense probably null
R5650:Tmem41b UTSW 7 109,574,072 (GRCm39) missense probably damaging 1.00
R5769:Tmem41b UTSW 7 109,577,945 (GRCm39) missense possibly damaging 0.69
Posted On 2015-04-16