Incidental Mutation 'IGL02232:Tmem41b'
ID285749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem41b
Ensembl Gene ENSMUSG00000047554
Gene Nametransmembrane protein 41B
SynonymsD7Ertd743e, D7Ertd70e, 1500031M19Rik, 1500015G02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.925) question?
Stock #IGL02232
Quality Score
Status
Chromosome7
Chromosomal Location109972187-109986929 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109978753 bp
ZygosityHeterozygous
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]
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: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Tmem41b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Tmem41b APN 7 109978702 splice site probably benign
IGL02174:Tmem41b APN 7 109978796 missense possibly damaging 0.89
IGL02523:Tmem41b APN 7 109982728 missense probably damaging 1.00
R0610:Tmem41b UTSW 7 109981083 missense probably benign 0.02
R0610:Tmem41b UTSW 7 109981085 missense probably damaging 0.99
R0840:Tmem41b UTSW 7 109981049 missense probably damaging 1.00
R4610:Tmem41b UTSW 7 109974734 unclassified probably benign
R5502:Tmem41b UTSW 7 109982763 nonsense probably null
R5650:Tmem41b UTSW 7 109974865 missense probably damaging 1.00
R5769:Tmem41b UTSW 7 109978738 missense possibly damaging 0.69
Posted On2015-04-16