Incidental Mutation 'R6294:Tom1l1'
ID 508621
Institutional Source Beutler Lab
Gene Symbol Tom1l1
Ensembl Gene ENSMUSG00000020541
Gene Name target of myb1-like 1 (chicken)
Synonyms 2310045L10Rik, Srcasm
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 90536516-90579105 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 90552587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 206 (Y206*)
Ref Sequence ENSEMBL: ENSMUSP00000103501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]
AlphaFold Q923U0
Predicted Effect probably null
Transcript: ENSMUST00000020849
AA Change: Y282*
SMART Domains Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: Y282*

DomainStartEndE-ValueType
VHS 15 150 7.37e-53 SMART
Pfam:GAT 212 288 5.8e-17 PFAM
low complexity region 340 349 N/A INTRINSIC
low complexity region 409 416 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107867
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: Y35*

DomainStartEndE-ValueType
Pfam:GAT 1 50 5.4e-12 PFAM
low complexity region 93 102 N/A INTRINSIC
low complexity region 162 169 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107868
AA Change: Y205*
SMART Domains Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: Y205*

DomainStartEndE-ValueType
Pfam:VHS 1 73 4.2e-10 PFAM
Pfam:GAT 119 220 5.5e-29 PFAM
low complexity region 263 272 N/A INTRINSIC
low complexity region 332 339 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107869
AA Change: Y206*
SMART Domains Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: Y206*

DomainStartEndE-ValueType
VHS 15 152 7.23e-38 SMART
low complexity region 264 273 N/A INTRINSIC
low complexity region 333 340 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147329
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T possibly damaging Het
Other mutations in Tom1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Tom1l1 APN 11 90,565,566 (GRCm39) missense probably damaging 1.00
IGL01995:Tom1l1 APN 11 90,540,687 (GRCm39) missense probably damaging 0.96
R0057:Tom1l1 UTSW 11 90,575,975 (GRCm39) splice site probably benign
R1557:Tom1l1 UTSW 11 90,547,210 (GRCm39) missense possibly damaging 0.92
R1614:Tom1l1 UTSW 11 90,574,080 (GRCm39) missense probably damaging 1.00
R1616:Tom1l1 UTSW 11 90,547,177 (GRCm39) missense possibly damaging 0.92
R2165:Tom1l1 UTSW 11 90,540,721 (GRCm39) splice site probably benign
R2517:Tom1l1 UTSW 11 90,561,951 (GRCm39) missense possibly damaging 0.66
R3745:Tom1l1 UTSW 11 90,548,567 (GRCm39) missense probably benign 0.01
R4614:Tom1l1 UTSW 11 90,561,952 (GRCm39) missense probably damaging 1.00
R4694:Tom1l1 UTSW 11 90,537,675 (GRCm39) missense possibly damaging 0.86
R4755:Tom1l1 UTSW 11 90,575,942 (GRCm39) missense probably damaging 1.00
R5397:Tom1l1 UTSW 11 90,552,600 (GRCm39) missense probably benign 0.02
R6733:Tom1l1 UTSW 11 90,575,886 (GRCm39) critical splice donor site probably null
R6911:Tom1l1 UTSW 11 90,534,987 (GRCm39) splice site probably null
R7103:Tom1l1 UTSW 11 90,561,907 (GRCm39) splice site probably null
R7489:Tom1l1 UTSW 11 90,547,185 (GRCm39) missense probably benign 0.00
R7696:Tom1l1 UTSW 11 90,563,741 (GRCm39) missense probably benign 0.02
R8244:Tom1l1 UTSW 11 90,548,647 (GRCm39) missense probably benign 0.13
R8787:Tom1l1 UTSW 11 90,561,931 (GRCm39) missense probably benign 0.00
R9205:Tom1l1 UTSW 11 90,548,644 (GRCm39) missense probably damaging 1.00
R9307:Tom1l1 UTSW 11 90,540,648 (GRCm39) small deletion probably benign
R9308:Tom1l1 UTSW 11 90,540,648 (GRCm39) small deletion probably benign
R9309:Tom1l1 UTSW 11 90,540,648 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- AGGAGCATCTCTCGTACTTTGG -3'
(R):5'- CACTGGCGAATGTAGACTGG -3'

Sequencing Primer
(F):5'- CTCGTACTTTGGAGAGCAGGAGC -3'
(R):5'- TTTTAAAGAGCATCCATCCCTAGC -3'
Posted On 2018-03-15