Incidental Mutation 'IGL02263:Tm9sf1'
ID 286819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm9sf1
Ensembl Gene ENSMUSG00000002320
Gene Name transmembrane 9 superfamily member 1
Synonyms MP70, 1200014D02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # IGL02263
Quality Score
Status
Chromosome 14
Chromosomal Location 55873422-55881263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55880392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000119435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002391] [ENSMUST00000120041] [ENSMUST00000121791] [ENSMUST00000121937] [ENSMUST00000122358] [ENSMUST00000133707] [ENSMUST00000149726] [ENSMUST00000132338] [ENSMUST00000138085]
AlphaFold Q9DBU0
Predicted Effect probably benign
Transcript: ENSMUST00000002391
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120041
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121791
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121937
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 547 9e-169 PFAM
transmembrane domain 550 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122358
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 58 563 2.3e-164 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127473
Predicted Effect possibly damaging
Transcript: ENSMUST00000133707
AA Change: T2A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 118 1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149726
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 390 1.7e-103 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132338
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 477 9.2e-142 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000138085
AA Change: T2A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
AA Change: T2A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 172 2.9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228007
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,680 (GRCm39) V100A probably damaging Het
Agmo T A 12: 37,407,696 (GRCm39) N193K probably damaging Het
Dnah8 A G 17: 30,948,139 (GRCm39) I1910V probably benign Het
Dsg2 T A 18: 20,723,077 (GRCm39) S368T possibly damaging Het
Eif2ak4 A G 2: 118,292,259 (GRCm39) T1270A probably benign Het
Ina T C 19: 47,003,926 (GRCm39) S245P probably damaging Het
Katnb1 A G 8: 95,816,703 (GRCm39) K96R probably damaging Het
Kcnj4 A G 15: 79,369,988 (GRCm39) probably benign Het
Kcnn3 A G 3: 89,568,525 (GRCm39) H601R possibly damaging Het
Lrrc25 C A 8: 71,070,472 (GRCm39) F84L probably benign Het
Ltb A G 17: 35,414,977 (GRCm39) Y259C probably damaging Het
Macc1 T G 12: 119,409,752 (GRCm39) N173K possibly damaging Het
Med17 A T 9: 15,178,772 (GRCm39) N466K probably damaging Het
Ncoa2 A T 1: 13,244,987 (GRCm39) N570K probably damaging Het
Or52ae9 A T 7: 103,390,262 (GRCm39) F62I probably damaging Het
Or5w1 A T 2: 87,486,543 (GRCm39) C241S probably damaging Het
Or8k20 T A 2: 86,106,546 (GRCm39) Y95F probably benign Het
Plb1 T C 5: 32,478,692 (GRCm39) probably benign Het
Ptprk G A 10: 27,951,110 (GRCm39) V12I unknown Het
Rabggta G A 14: 55,956,418 (GRCm39) probably benign Het
Slc41a2 A G 10: 83,149,364 (GRCm39) V193A possibly damaging Het
Thbs1 A G 2: 117,950,361 (GRCm39) N665D probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r91 A G 7: 19,835,768 (GRCm39) D229G probably benign Het
Vmn2r7 A C 3: 64,598,868 (GRCm39) V654G probably damaging Het
Other mutations in Tm9sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Tm9sf1 APN 14 55,880,184 (GRCm39) missense probably damaging 1.00
IGL01102:Tm9sf1 APN 14 55,880,224 (GRCm39) missense probably damaging 1.00
R0242:Tm9sf1 UTSW 14 55,875,392 (GRCm39) missense possibly damaging 0.90
R0242:Tm9sf1 UTSW 14 55,875,392 (GRCm39) missense possibly damaging 0.90
R0469:Tm9sf1 UTSW 14 55,878,886 (GRCm39) missense possibly damaging 0.87
R0928:Tm9sf1 UTSW 14 55,873,914 (GRCm39) missense probably damaging 1.00
R0973:Tm9sf1 UTSW 14 55,880,392 (GRCm39) missense possibly damaging 0.95
R0973:Tm9sf1 UTSW 14 55,880,392 (GRCm39) missense possibly damaging 0.95
R0974:Tm9sf1 UTSW 14 55,880,392 (GRCm39) missense possibly damaging 0.95
R1441:Tm9sf1 UTSW 14 55,873,782 (GRCm39) missense probably damaging 1.00
R1644:Tm9sf1 UTSW 14 55,878,757 (GRCm39) missense probably benign 0.03
R1873:Tm9sf1 UTSW 14 55,873,680 (GRCm39) missense probably damaging 1.00
R2176:Tm9sf1 UTSW 14 55,878,866 (GRCm39) missense possibly damaging 0.89
R2973:Tm9sf1 UTSW 14 55,878,571 (GRCm39) missense probably benign 0.01
R4284:Tm9sf1 UTSW 14 55,878,780 (GRCm39) missense probably damaging 1.00
R4545:Tm9sf1 UTSW 14 55,875,565 (GRCm39) missense possibly damaging 0.74
R4633:Tm9sf1 UTSW 14 55,878,660 (GRCm39) missense probably damaging 1.00
R4816:Tm9sf1 UTSW 14 55,878,606 (GRCm39) missense possibly damaging 0.89
R4943:Tm9sf1 UTSW 14 55,878,625 (GRCm39) missense probably damaging 0.99
R5270:Tm9sf1 UTSW 14 55,873,938 (GRCm39) missense probably damaging 1.00
R5384:Tm9sf1 UTSW 14 55,880,301 (GRCm39) missense possibly damaging 0.80
R5385:Tm9sf1 UTSW 14 55,880,301 (GRCm39) missense possibly damaging 0.80
R5386:Tm9sf1 UTSW 14 55,880,301 (GRCm39) missense possibly damaging 0.80
R5561:Tm9sf1 UTSW 14 55,875,554 (GRCm39) missense probably damaging 1.00
R6246:Tm9sf1 UTSW 14 55,873,827 (GRCm39) missense probably damaging 1.00
R6247:Tm9sf1 UTSW 14 55,873,827 (GRCm39) missense probably damaging 1.00
R6248:Tm9sf1 UTSW 14 55,873,827 (GRCm39) missense probably damaging 1.00
R7319:Tm9sf1 UTSW 14 55,875,432 (GRCm39) unclassified probably benign
R7659:Tm9sf1 UTSW 14 55,873,792 (GRCm39) missense probably damaging 1.00
R7974:Tm9sf1 UTSW 14 55,873,906 (GRCm39) missense probably damaging 1.00
R9130:Tm9sf1 UTSW 14 55,875,464 (GRCm39) missense probably damaging 1.00
X0025:Tm9sf1 UTSW 14 55,880,293 (GRCm39) missense probably benign 0.43
X0026:Tm9sf1 UTSW 14 55,880,394 (GRCm39) start codon destroyed probably null 0.92
Posted On 2015-04-16