Incidental Mutation 'R4456:Tom1l2'
ID 329197
Institutional Source Beutler Lab
Gene Symbol Tom1l2
Ensembl Gene ENSMUSG00000000538
Gene Name target of myb1-like 2 (chicken)
Synonyms 2900016I08Rik, A730055F12Rik, myb1-like protein 2
MMRRC Submission 041716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R4456 (G1)
Quality Score 130
Status Validated
Chromosome 11
Chromosomal Location 60117540-60243731 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 60243641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064019] [ENSMUST00000070805] [ENSMUST00000093046] [ENSMUST00000093048] [ENSMUST00000094140] [ENSMUST00000095254] [ENSMUST00000108722] [ENSMUST00000102682] [ENSMUST00000102683] [ENSMUST00000108723]
AlphaFold Q5SRX1
Predicted Effect probably benign
Transcript: ENSMUST00000064019
SMART Domains Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538

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: ENSMUST00000070805
SMART Domains Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093046
SMART Domains Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538

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 benign
Transcript: ENSMUST00000093048
SMART Domains Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538

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 benign
Transcript: ENSMUST00000094140
SMART Domains Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095254
SMART Domains Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538

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 noncoding transcript
Transcript: ENSMUST00000142225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128905
Predicted Effect probably benign
Transcript: ENSMUST00000108722
SMART Domains Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102682
SMART Domains Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538

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
SMART Domains Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538

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 probably benign
Transcript: ENSMUST00000108723
SMART Domains Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 93% (42/45)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,833,071 (GRCm39) F1210L probably benign Het
Amfr C T 8: 94,711,568 (GRCm39) A323T possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cdc42ep1 A G 15: 78,734,091 (GRCm39) E397G possibly damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Dnmt1 T C 9: 20,821,138 (GRCm39) T1250A probably damaging Het
Dst A T 1: 34,229,800 (GRCm39) K2642N probably benign Het
Emcn A T 3: 137,085,608 (GRCm39) K69* probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fbxo38 G T 18: 62,659,320 (GRCm39) R326S probably damaging Het
Fcer1g A G 1: 171,061,808 (GRCm39) S3P probably benign Het
Glp1r G T 17: 31,137,949 (GRCm39) E127* probably null Het
Gnmt G T 17: 47,039,910 (GRCm39) H56Q probably benign Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hsd3b1 G A 3: 98,763,459 (GRCm39) T48I probably benign Het
Kmt2c A T 5: 25,515,210 (GRCm39) C2878S probably benign Het
Loxhd1 A G 18: 77,486,785 (GRCm39) Y1290C probably damaging Het
Mkln1 A G 6: 31,403,707 (GRCm39) Y76C probably damaging Het
Mri1 C A 8: 84,983,035 (GRCm39) A129S probably benign Het
Mroh2b A T 15: 4,977,407 (GRCm39) H1253L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mthfsd C T 8: 121,832,504 (GRCm39) V63I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nbea A G 3: 55,551,205 (GRCm39) V2653A probably benign Het
Nckap5 A T 1: 125,842,472 (GRCm39) probably benign Het
Notch4 G A 17: 34,802,807 (GRCm39) V1378M probably damaging Het
Or51a42 A G 7: 103,708,507 (GRCm39) S101P possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rasl12 A G 9: 65,305,866 (GRCm39) K7R probably null Het
Rnf4 A G 5: 34,508,705 (GRCm39) Y189C probably benign Het
Shroom3 A G 5: 93,088,858 (GRCm39) H536R probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Tbc1d5 A C 17: 51,089,369 (GRCm39) S604A probably damaging Het
Tcp11l1 A T 2: 104,514,567 (GRCm39) V400E probably damaging Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Txndc15 A G 13: 55,865,977 (GRCm39) D147G possibly damaging Het
Other mutations in Tom1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Tom1l2 APN 11 60,151,942 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- CCAGTCCACCTTTGAGATGAC -3'
(R):5'- ACTGAGAGTGGAGTGTCGTC -3'

Sequencing Primer
(F):5'- CACCTTTGAGATGACACCACTTATTG -3'
(R):5'- AGTGTCGTCCAATCGGAAGTG -3'
Posted On 2015-07-21