Incidental Mutation 'R4614:Tom1l1'
ID 344964
Institutional Source Beutler Lab
Gene Symbol Tom1l1
Ensembl Gene ENSMUSG00000020541
Gene Name target of myb1-like 1 (chicken)
Synonyms 2310045L10Rik, Srcasm
MMRRC Submission 041825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R4614 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 90536516-90579105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90561952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 190 (N190K)
Ref Sequence ENSEMBL: ENSMUSP00000123329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000107868] [ENSMUST00000107869] [ENSMUST00000154599]
AlphaFold Q923U0
Predicted Effect probably damaging
Transcript: ENSMUST00000020849
AA Change: N225K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: N225K

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 damaging
Transcript: ENSMUST00000107868
AA Change: N148K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: N148K

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 damaging
Transcript: ENSMUST00000107869
AA Change: N149K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: N149K

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 probably damaging
Transcript: ENSMUST00000154599
AA Change: N190K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123329
Gene: ENSMUSG00000020541
AA Change: N190K

DomainStartEndE-ValueType
VHS 15 150 7.37e-53 SMART
Meta Mutation Damage Score 0.7509 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (95/97)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,402,375 (GRCm39) probably null Het
4932414N04Rik C A 2: 68,575,804 (GRCm39) T701K probably benign Het
Abcb11 A T 2: 69,115,025 (GRCm39) H640Q possibly damaging Het
Ago2 C T 15: 73,002,816 (GRCm39) V139M probably damaging Het
Apol11a A T 15: 77,400,772 (GRCm39) K86N probably benign Het
Ass1 T C 2: 31,404,795 (GRCm39) Y359H probably damaging Het
Bpifa3 A T 2: 153,978,200 (GRCm39) N34I probably damaging Het
Brwd1 A T 16: 95,848,559 (GRCm39) L540H probably damaging Het
C3ar1 G A 6: 122,827,680 (GRCm39) S179F probably benign Het
Ccnb1ip1 T C 14: 51,029,652 (GRCm39) T137A probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cdk12 T A 11: 98,140,603 (GRCm39) probably benign Het
Cep290 T C 10: 100,344,602 (GRCm39) M480T probably benign Het
Cep290 G A 10: 100,395,549 (GRCm39) R2112K possibly damaging Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cpeb1 A T 7: 81,086,018 (GRCm39) D41E possibly damaging Het
Csf2rb2 C G 15: 78,175,902 (GRCm39) C184S probably damaging Het
Ctsc G A 7: 87,927,583 (GRCm39) probably null Het
Cyp2c40 G A 19: 39,792,300 (GRCm39) S191L probably damaging Het
Dagla T C 19: 10,225,641 (GRCm39) E841G probably damaging Het
Dld A T 12: 31,383,944 (GRCm39) Y386* probably null Het
Dpp8 G A 9: 64,973,678 (GRCm39) S634N probably benign Het
Duox2 A T 2: 122,120,038 (GRCm39) V824E probably damaging Het
Dync2h1 A C 9: 7,011,290 (GRCm39) S3634R probably benign Het
Eef1d T C 15: 75,775,425 (GRCm39) N78S probably benign Het
Fcrl5 T A 3: 87,355,733 (GRCm39) I482N probably damaging Het
Fezf1 A T 6: 23,247,857 (GRCm39) C73S possibly damaging Het
Fgfr1 A G 8: 26,047,813 (GRCm39) D53G probably benign Het
Fmn1 T C 2: 113,195,494 (GRCm39) L398S unknown Het
Gm17175 T C 14: 51,809,042 (GRCm39) Q108R probably benign Het
Gm28042 G A 2: 119,871,639 (GRCm39) G669D probably damaging Het
Gm6185 A G 1: 161,050,669 (GRCm39) noncoding transcript Het
Gucy2g A T 19: 55,190,579 (GRCm39) C1018* probably null Het
H2-Q10 A T 17: 35,784,917 (GRCm39) probably benign Het
H2-T22 T G 17: 36,351,429 (GRCm39) Q267P probably benign Het
Hibadh A G 6: 52,523,915 (GRCm39) Y328H possibly damaging Het
Hsd3b3 T A 3: 98,649,396 (GRCm39) Y309F probably benign Het
Ighv1-37 C T 12: 114,859,863 (GRCm39) A116T probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Iqch A G 9: 63,389,863 (GRCm39) M733T probably benign Het
Jakmip2 T A 18: 43,695,657 (GRCm39) D539V probably damaging Het
Lgi2 A G 5: 52,695,775 (GRCm39) S395P probably damaging Het
Lrrc40 A T 3: 157,760,271 (GRCm39) N344I probably damaging Het
Ltbp1 G A 17: 75,596,989 (GRCm39) probably benign Het
Metap1d C T 2: 71,355,292 (GRCm39) P332L probably benign Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mis18bp1 T A 12: 65,200,303 (GRCm39) probably benign Het
Mta2 T C 19: 8,925,492 (GRCm39) probably null Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Muc4 A G 16: 32,577,432 (GRCm39) K241E probably benign Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Nfs1 A G 2: 155,985,970 (GRCm39) S31P probably benign Het
Or10g6 T A 9: 39,934,255 (GRCm39) C189S probably damaging Het
Or10z1 A G 1: 174,078,188 (GRCm39) F102L possibly damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Otogl A T 10: 107,727,985 (GRCm39) C245* probably null Het
Pcdhb16 G A 18: 37,613,398 (GRCm39) G786D probably benign Het
Pdcd5 C T 7: 35,346,472 (GRCm39) probably benign Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Piezo1 A T 8: 123,213,150 (GRCm39) I1871N probably benign Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Plxnd1 T C 6: 115,949,486 (GRCm39) T767A possibly damaging Het
Polr3c T G 3: 96,623,787 (GRCm39) I322L probably benign Het
Ppp1r26 C A 2: 28,340,860 (GRCm39) H163Q probably benign Het
Prox1 T G 1: 189,894,205 (GRCm39) Y80S probably damaging Het
Pygl T C 12: 70,257,753 (GRCm39) probably null Het
Rab23 T C 1: 33,778,466 (GRCm39) V236A probably benign Het
Setd2 T C 9: 110,398,881 (GRCm39) probably null Het
Slc5a7 A G 17: 54,583,587 (GRCm39) S568P probably benign Het
Smpd3 A G 8: 106,986,371 (GRCm39) L477P probably damaging Het
Spg21 A G 9: 65,387,671 (GRCm39) probably null Het
Spta1 A T 1: 174,020,543 (GRCm39) I551F probably damaging Het
Supt5 A T 7: 28,025,397 (GRCm39) I135N possibly damaging Het
Tacstd2 A G 6: 67,512,170 (GRCm39) F174S probably damaging Het
Tas1r2 A T 4: 139,387,098 (GRCm39) T186S probably damaging Het
Tie1 A G 4: 118,336,248 (GRCm39) Y673H probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tox4 C T 14: 52,524,924 (GRCm39) T249I probably damaging Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Vmn2r13 A T 5: 109,323,065 (GRCm39) F75I probably benign Het
Washc2 T A 6: 116,215,135 (GRCm39) S502T possibly damaging Het
Wnk4 A T 11: 101,164,937 (GRCm39) E755D probably benign Het
Zfp207 T A 11: 80,286,016 (GRCm39) probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R 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
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
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'- TCAAAGGAAGCTGGGATGTG -3'
(R):5'- GCATTTGATATTCCAGCAGGTG -3'

Sequencing Primer
(F):5'- CAGTAAAGTATTGCAAATGCCCAG -3'
(R):5'- GGAAGCTGCATAGTGAAC -3'
Posted On 2015-09-25