Incidental Mutation 'IGL02990:Tom1l2'
ID 406899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tom1l2
Ensembl Gene ENSMUSG00000000538
Gene Name target of myb1-like 2 (chicken)
Synonyms A730055F12Rik, myb1-like protein 2, 2900016I08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL02990
Quality Score
Status
Chromosome 11
Chromosomal Location 60226714-60352905 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60230236 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 461 (D461N)
Ref Sequence ENSEMBL: ENSMUSP00000099744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093046] [ENSMUST00000093048] [ENSMUST00000095254] [ENSMUST00000102683]
AlphaFold Q5SRX1
Predicted Effect probably damaging
Transcript: ENSMUST00000093046
AA Change: D411N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: D411N

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 probably damaging
Transcript: ENSMUST00000093048
AA Change: D416N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: D416N

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 probably damaging
Transcript: ENSMUST00000095254
AA Change: D441N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: D441N

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: ENSMUST00000102683
AA Change: D461N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: D461N

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 unknown
Transcript: ENSMUST00000133420
AA Change: D152N
SMART Domains Protein: ENSMUSP00000117623
Gene: ENSMUSG00000000538
AA Change: D152N

DomainStartEndE-ValueType
low complexity region 170 185 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143124
AA Change: D132N
SMART Domains Protein: ENSMUSP00000121936
Gene: ENSMUSG00000000538
AA Change: D132N

DomainStartEndE-ValueType
low complexity region 150 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153920
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Tom1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Tom1l2 APN 11 60261116 missense possibly damaging 0.93
IGL01459:Tom1l2 APN 11 60280269 missense probably damaging 1.00
R0025:Tom1l2 UTSW 11 60230134 missense probably damaging 0.96
R0025:Tom1l2 UTSW 11 60230134 missense probably damaging 0.96
R4456:Tom1l2 UTSW 11 60352815 unclassified probably benign
R4627:Tom1l2 UTSW 11 60242707 critical splice donor site probably null
R4695:Tom1l2 UTSW 11 60270433 missense probably damaging 0.98
R4713:Tom1l2 UTSW 11 60270433 missense probably damaging 0.98
R4731:Tom1l2 UTSW 11 60270433 missense probably damaging 0.98
R4788:Tom1l2 UTSW 11 60249018 missense probably damaging 1.00
R4937:Tom1l2 UTSW 11 60258918 missense probably damaging 1.00
R5320:Tom1l2 UTSW 11 60242822 nonsense probably null
R5367:Tom1l2 UTSW 11 60241808 missense probably benign 0.00
R6158:Tom1l2 UTSW 11 60232927 missense probably damaging 1.00
R6944:Tom1l2 UTSW 11 60248991 missense probably damaging 0.98
R7335:Tom1l2 UTSW 11 60245165 missense probably benign 0.00
R7356:Tom1l2 UTSW 11 60249027 missense probably damaging 0.99
R7376:Tom1l2 UTSW 11 60261200 missense probably benign
R7544:Tom1l2 UTSW 11 60280214 small deletion probably benign
R7760:Tom1l2 UTSW 11 60274965 missense probably benign
R9200:Tom1l2 UTSW 11 60230116 missense probably benign 0.37
R9291:Tom1l2 UTSW 11 60262730 missense probably benign 0.09
R9394:Tom1l2 UTSW 11 60241889 missense probably benign 0.00
Z1186:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1187:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1188:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1189:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1190:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1191:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Z1192:Tom1l2 UTSW 11 60241856 missense probably benign 0.01
Posted On 2016-08-02