Incidental Mutation 'IGL01434:Tmem41b'
ID 84293
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 # IGL01434
Quality Score
Status
Chromosome 7
Chromosomal Location 109571394-109586136 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 109577909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094097] [ENSMUST00000118429] [ENSMUST00000119929] [ENSMUST00000124821] [ENSMUST00000135565] [ENSMUST00000154831]
AlphaFold Q8K1A5
Predicted Effect probably benign
Transcript: ENSMUST00000094097
SMART Domains Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554

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
SMART Domains Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554

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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,380,297 (GRCm39) probably benign Het
Adcy7 A G 8: 89,051,472 (GRCm39) N864S probably damaging Het
Anapc7 A G 5: 122,576,279 (GRCm39) D302G probably benign Het
Atm A T 9: 53,419,107 (GRCm39) C782S probably benign Het
Bicdl1 G A 5: 115,808,215 (GRCm39) Q37* probably null Het
Cabin1 T C 10: 75,561,420 (GRCm39) D1027G possibly damaging Het
Cbl T C 9: 44,075,503 (GRCm39) I364V probably damaging Het
Ccer1 T C 10: 97,529,459 (GRCm39) S41P unknown Het
Cenpf G A 1: 189,390,065 (GRCm39) Q1256* probably null Het
Copa T A 1: 171,947,128 (GRCm39) I1093N probably benign Het
Cped1 C T 6: 22,017,004 (GRCm39) L118F probably damaging Het
Cplane2 T C 4: 140,945,964 (GRCm39) V169A probably benign Het
Cstdc4 T A 16: 36,006,777 (GRCm39) V37E probably benign Het
Dner T C 1: 84,361,731 (GRCm39) H626R probably benign Het
Ears2 G A 7: 121,662,311 (GRCm39) probably benign Het
Eif3c A G 7: 126,155,582 (GRCm39) I562T probably damaging Het
Eml6 T C 11: 29,769,090 (GRCm39) Y685C probably damaging Het
Garin1b T C 6: 29,320,700 (GRCm39) V108A probably damaging Het
Gpt A G 15: 76,582,982 (GRCm39) K321E probably damaging Het
Hspd1 C T 1: 55,120,285 (GRCm39) G306R probably damaging Het
Kmt2c T C 5: 25,614,306 (GRCm39) Y138C probably damaging Het
Lhcgr A G 17: 89,049,865 (GRCm39) Y554H probably damaging Het
Nell1 A T 7: 50,350,956 (GRCm39) K534N probably benign Het
Nob1 A G 8: 108,151,360 (GRCm39) probably benign Het
Or13a17 G A 7: 140,271,531 (GRCm39) A238T probably damaging Het
Phf12 C T 11: 77,914,385 (GRCm39) P60L probably damaging Het
Prkdc A G 16: 15,531,451 (GRCm39) E1358G probably benign Het
Rimbp3 A G 16: 17,029,566 (GRCm39) T997A probably benign Het
Slc9a9 T A 9: 94,901,247 (GRCm39) N393K possibly damaging Het
Sohlh2 T C 3: 55,102,582 (GRCm39) S206P probably damaging Het
Stard10 G A 7: 100,971,187 (GRCm39) V125M probably benign Het
Tff2 G T 17: 31,362,240 (GRCm39) probably null Het
Tha1 T C 11: 117,759,425 (GRCm39) T355A probably benign Het
Tmem120a G T 5: 135,765,864 (GRCm39) F127L possibly damaging Het
Tonsl T C 15: 76,515,302 (GRCm39) D1028G probably benign Het
Other mutations in Tmem41b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-11