Incidental Mutation 'IGL00648:Tom1l2'
ID 14544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tom1l2
Ensembl Gene ENSMUSG00000000538
Gene Name target of myb1-like 2 (chicken)
Synonyms 2900016I08Rik, A730055F12Rik, myb1-like protein 2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL00648
Quality Score
Status
Chromosome 11
Chromosomal Location 60117540-60243731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60151942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 155 (Y155C)
Ref Sequence ENSEMBL: ENSMUSP00000090736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064019] [ENSMUST00000093046] [ENSMUST00000093048] [ENSMUST00000095254] [ENSMUST00000102682] [ENSMUST00000102683]
AlphaFold Q5SRX1
Predicted Effect probably damaging
Transcript: ENSMUST00000064019
AA Change: Y200C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: Y200C

DomainStartEndE-ValueType
VHS 13 148 1.88e-68 SMART
low complexity region 187 202 N/A INTRINSIC
Pfam:GAT 216 317 1.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093046
AA Change: Y150C

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: Y150C

DomainStartEndE-ValueType
Pfam:VHS 7 73 1.3e-19 PFAM
low complexity region 137 152 N/A INTRINSIC
Pfam:GAT 166 267 3e-36 PFAM
low complexity region 428 443 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000093048
AA Change: Y155C

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: Y155C

DomainStartEndE-ValueType
VHS 13 154 1.8e-47 SMART
Pfam:GAT 171 272 3e-36 PFAM
low complexity region 433 448 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095254
AA Change: Y200C

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: Y200C

DomainStartEndE-ValueType
VHS 13 148 1.88e-68 SMART
low complexity region 187 202 N/A INTRINSIC
Pfam:GAT 216 317 2e-36 PFAM
low complexity region 458 473 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102682
AA Change: Y200C

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: Y200C

DomainStartEndE-ValueType
VHS 13 148 1.88e-68 SMART
low complexity region 187 202 N/A INTRINSIC
Pfam:GAT 216 317 1.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102683
AA Change: Y200C

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: Y200C

DomainStartEndE-ValueType
VHS 13 148 1.88e-68 SMART
low complexity region 187 202 N/A INTRINSIC
Pfam:GAT 232 308 1e-26 PFAM
low complexity region 478 493 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142225
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele show malocclusion, kyphosis, hydrocephaly, patchy hair, splenomegaly, high B- and T-cell counts, thrombopenia, impaired humoral responses, a high frequency of infections and tumors, renal cysts, skin lesions, freezing behavior and sporadic bleeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cage1 G T 13: 38,206,969 (GRCm39) S398* probably null Het
Calr T A 8: 85,569,331 (GRCm39) probably benign Het
Cmah A T 13: 24,644,259 (GRCm39) K459* probably null Het
Edem1 T A 6: 108,828,168 (GRCm39) probably null Het
Elp4 A T 2: 105,672,711 (GRCm39) probably benign Het
Fam3b C T 16: 97,279,599 (GRCm39) G110E probably damaging Het
Fmnl3 G A 15: 99,220,551 (GRCm39) T577I probably damaging Het
Nbea A G 3: 55,916,681 (GRCm39) S860P probably damaging Het
Nlrp1a T C 11: 70,983,783 (GRCm39) T1082A probably benign Het
Pbrm1 A T 14: 30,774,240 (GRCm39) I469F probably damaging Het
Ptprq G A 10: 107,482,577 (GRCm39) L999F probably benign Het
Taar6 C T 10: 23,861,406 (GRCm39) V47M probably benign Het
Other mutations in Tom1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Tom1l2 APN 11 60,171,095 (GRCm39) missense probably damaging 1.00
IGL02990:Tom1l2 APN 11 60,121,062 (GRCm39) missense probably damaging 1.00
R0025:Tom1l2 UTSW 11 60,120,960 (GRCm39) missense probably damaging 0.96
R0025:Tom1l2 UTSW 11 60,120,960 (GRCm39) missense probably damaging 0.96
R4456:Tom1l2 UTSW 11 60,243,641 (GRCm39) unclassified probably benign
R4627:Tom1l2 UTSW 11 60,133,533 (GRCm39) critical splice donor site probably null
R4695:Tom1l2 UTSW 11 60,161,259 (GRCm39) missense probably damaging 0.98
R4713:Tom1l2 UTSW 11 60,161,259 (GRCm39) missense probably damaging 0.98
R4731:Tom1l2 UTSW 11 60,161,259 (GRCm39) missense probably damaging 0.98
R4788:Tom1l2 UTSW 11 60,139,844 (GRCm39) missense probably damaging 1.00
R4937:Tom1l2 UTSW 11 60,149,744 (GRCm39) missense probably damaging 1.00
R5320:Tom1l2 UTSW 11 60,133,648 (GRCm39) nonsense probably null
R5367:Tom1l2 UTSW 11 60,132,634 (GRCm39) missense probably benign 0.00
R6158:Tom1l2 UTSW 11 60,123,753 (GRCm39) missense probably damaging 1.00
R6944:Tom1l2 UTSW 11 60,139,817 (GRCm39) missense probably damaging 0.98
R7335:Tom1l2 UTSW 11 60,135,991 (GRCm39) missense probably benign 0.00
R7356:Tom1l2 UTSW 11 60,139,853 (GRCm39) missense probably damaging 0.99
R7376:Tom1l2 UTSW 11 60,152,026 (GRCm39) missense probably benign
R7544:Tom1l2 UTSW 11 60,171,040 (GRCm39) small deletion probably benign
R7760:Tom1l2 UTSW 11 60,165,791 (GRCm39) missense probably benign
R9200:Tom1l2 UTSW 11 60,120,942 (GRCm39) missense probably benign 0.37
R9291:Tom1l2 UTSW 11 60,153,556 (GRCm39) missense probably benign 0.09
R9394:Tom1l2 UTSW 11 60,132,715 (GRCm39) missense probably benign 0.00
R9514:Tom1l2 UTSW 11 60,153,486 (GRCm39) missense probably damaging 0.96
R9622:Tom1l2 UTSW 11 60,151,942 (GRCm39) missense possibly damaging 0.93
R9625:Tom1l2 UTSW 11 60,161,277 (GRCm39) missense probably damaging 1.00
Z1186:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1187:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1188:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1189:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1190:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1191:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Z1192:Tom1l2 UTSW 11 60,132,682 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06