Incidental Mutation 'R6911:Tom1l1'
ID 548885
Institutional Source Beutler Lab
Gene Symbol Tom1l1
Ensembl Gene ENSMUSG00000020541
Gene Name target of myb1-like 1 (chicken)
Synonyms 2310045L10Rik, Srcasm
MMRRC Submission 045003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6911 (G1)
Quality Score 53.0072
Status Validated
Chromosome 11
Chromosomal Location 90536516-90579105 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 90534987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000020851] [ENSMUST00000099960] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]
AlphaFold Q923U0
Predicted Effect probably benign
Transcript: ENSMUST00000020849
SMART Domains Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541

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: ENSMUST00000020851
SMART Domains Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Pfam:CtaG_Cox11 112 262 5.5e-62 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099960
SMART Domains Protein: ENSMUSP00000097543
Gene: ENSMUSG00000020544

DomainStartEndE-ValueType
Pfam:CtaG_Cox11 1 123 1.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107867
SMART Domains Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541

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 benign
Transcript: ENSMUST00000107868
SMART Domains Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541

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 benign
Transcript: ENSMUST00000107869
SMART Domains Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,948,068 (GRCm39) M655K probably benign Het
Adam34l A T 8: 44,078,146 (GRCm39) F693I probably benign Het
Amt G T 9: 108,178,428 (GRCm39) probably null Het
Anapc7 A T 5: 122,578,343 (GRCm39) K443* probably null Het
Apcs A G 1: 172,721,752 (GRCm39) V198A probably benign Het
Atp2a1 A G 7: 126,056,008 (GRCm39) V271A probably damaging Het
Bltp2 T A 11: 78,159,179 (GRCm39) I459N probably damaging Het
Cdh20 T C 1: 104,912,411 (GRCm39) I555T possibly damaging Het
Cgnl1 T C 9: 71,563,497 (GRCm39) E810G possibly damaging Het
Cntnap5c A G 17: 58,199,009 (GRCm39) D101G probably damaging Het
Coq7 T A 7: 118,109,385 (GRCm39) H221L unknown Het
Depdc5 A T 5: 33,081,536 (GRCm39) Q566L probably damaging Het
Dync1i2 G A 2: 71,077,446 (GRCm39) V233I probably benign Het
Erp44 G T 4: 48,204,268 (GRCm39) H298N probably benign Het
Fam162a A G 16: 35,866,747 (GRCm39) probably null Het
Fancd2 A G 6: 113,525,346 (GRCm39) E274G probably damaging Het
Fkbp15 G T 4: 62,258,527 (GRCm39) Q147K probably damaging Het
Ganab T A 19: 8,885,152 (GRCm39) probably null Het
Gfm1 T C 3: 67,358,636 (GRCm39) V409A possibly damaging Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid1 A T 14: 34,542,185 (GRCm39) M1L probably benign Het
Helz C T 11: 107,510,051 (GRCm39) T558I probably benign Het
Htra4 A G 8: 25,515,721 (GRCm39) V439A probably damaging Het
Kctd17 A G 15: 78,318,206 (GRCm39) E95G probably damaging Het
Kif18b T C 11: 102,807,206 (GRCm39) D43G probably damaging Het
Lrpprc G A 17: 85,063,711 (GRCm39) S550L possibly damaging Het
Lrrfip1 T A 1: 91,042,529 (GRCm39) C311* probably null Het
Mcoln2 C T 3: 145,898,011 (GRCm39) T44I probably damaging Het
Med13l A G 5: 118,893,723 (GRCm39) T2010A possibly damaging Het
Med23 C T 10: 24,778,079 (GRCm39) T803M probably damaging Het
Mfsd13a T C 19: 46,357,716 (GRCm39) F290S probably damaging Het
Myh13 C T 11: 67,245,753 (GRCm39) Q1095* probably null Het
Nktr C A 9: 121,583,392 (GRCm39) Y93* probably null Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Ntrk2 A T 13: 59,007,029 (GRCm39) E210D probably damaging Het
Nup210 G T 6: 91,007,112 (GRCm39) A568E probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or2y1g A G 11: 49,171,634 (GRCm39) I220V probably benign Het
Or4g16 A G 2: 111,136,618 (GRCm39) T23A probably benign Het
Or5as1 T A 2: 86,980,111 (GRCm39) K298I probably damaging Het
Pdlim5 T C 3: 142,010,076 (GRCm39) I289V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per1 C T 11: 68,994,083 (GRCm39) T443M probably damaging Het
Plxna1 A G 6: 89,297,956 (GRCm39) V1774A probably damaging Het
Poteg A G 8: 27,940,326 (GRCm39) Y165C probably damaging Het
Prlr A G 15: 10,329,270 (GRCm39) T582A probably benign Het
Psma5 A G 3: 108,172,464 (GRCm39) E60G probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 T C 13: 11,842,445 (GRCm39) N484S possibly damaging Het
Sec31a A G 5: 100,541,123 (GRCm39) I328T possibly damaging Het
Slc12a2 G T 18: 58,052,541 (GRCm39) V787L probably benign Het
St14 C T 9: 31,018,081 (GRCm39) R177Q probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ttf1 A G 2: 28,954,863 (GRCm39) R76G probably benign Het
Ube4a C T 9: 44,854,056 (GRCm39) E581K probably damaging Het
Vmn2r114 A G 17: 23,510,104 (GRCm39) V792A probably damaging Het
Wdr11 T C 7: 129,208,819 (GRCm39) I430T probably benign Het
Xkr4 T C 1: 3,741,544 (GRCm39) K10E possibly damaging Het
Zfp451 T C 1: 33,842,537 (GRCm39) probably benign 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
R6294:Tom1l1 UTSW 11 90,552,587 (GRCm39) nonsense probably null
R6733:Tom1l1 UTSW 11 90,575,886 (GRCm39) critical splice donor 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'- TGTACCGTTTGAAGCTGGACAG -3'
(R):5'- CAGGCCAACTGTATTACTTAAAGC -3'

Sequencing Primer
(F):5'- CTGTAATCCTAGTACTCAGGAGGC -3'
(R):5'- GCAATATTCATTTCCTACCCTTAAGC -3'
Posted On 2019-05-15