Incidental Mutation 'IGL02232:Tmem41b'
ID 285749
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: 0.944) question?
Stock # IGL02232
Quality Score
Status
Chromosome 7
Chromosomal Location 109571394-109586136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109577960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000113215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094097] [ENSMUST00000118429] [ENSMUST00000119929] [ENSMUST00000124821] [ENSMUST00000135565] [ENSMUST00000154831]
AlphaFold Q8K1A5
Predicted Effect probably damaging
Transcript: ENSMUST00000094097
AA Change: V175A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554
AA Change: V175A

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 damaging
Transcript: ENSMUST00000118429
AA Change: V175A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554
AA Change: V175A

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 damaging
Transcript: ENSMUST00000119929
AA Change: V108A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113215
Gene: ENSMUSG00000047554
AA Change: V108A

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 benign
Transcript: ENSMUST00000124821
SMART Domains Protein: ENSMUSP00000119520
Gene: ENSMUSG00000047554

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125703
Predicted Effect probably benign
Transcript: ENSMUST00000135565
SMART Domains Protein: ENSMUSP00000121078
Gene: ENSMUSG00000047554

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Blast:uDENN 81 113 7e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151587
Predicted Effect probably benign
Transcript: ENSMUST00000154831
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging 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
IGL02523:Tmem41b APN 7 109,581,935 (GRCm39) missense probably damaging 1.00
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