Incidental Mutation 'R4373:Tsku'
ID 326064
Institutional Source Beutler Lab
Gene Symbol Tsku
Ensembl Gene ENSMUSG00000049580
Gene Name tsukushi, small leucine rich proteoglycan
Synonyms 9530051K01Rik, Lrrc54
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97999875-98010535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98002038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 98 (T98A)
Ref Sequence ENSEMBL: ENSMUSP00000146025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094161] [ENSMUST00000164726] [ENSMUST00000165257] [ENSMUST00000165901] [ENSMUST00000167405] [ENSMUST00000179780] [ENSMUST00000206414]
AlphaFold Q8CBR6
Predicted Effect probably benign
Transcript: ENSMUST00000094161
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164726
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165257
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165901
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167405
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179780
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: T98A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 20 63 3.24e0 SMART
LRR 63 81 2.54e2 SMART
LRR 84 107 7.38e1 SMART
LRR_TYP 108 131 8.34e-3 SMART
LRR 134 154 3.18e2 SMART
LRR 203 228 2.76e1 SMART
LRR 254 278 4.09e1 SMART
LRR 279 302 1.71e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206414
AA Change: T98A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206770
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a failure of anterior commissure axons to cross the midline. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in Tsku
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0034:Tsku UTSW 7 98,001,870 (GRCm39) missense possibly damaging 0.70
R0034:Tsku UTSW 7 98,001,870 (GRCm39) missense possibly damaging 0.70
R1560:Tsku UTSW 7 98,002,151 (GRCm39) missense probably damaging 1.00
R1745:Tsku UTSW 7 98,001,386 (GRCm39) missense possibly damaging 0.80
R1994:Tsku UTSW 7 98,001,353 (GRCm39) missense probably damaging 1.00
R2899:Tsku UTSW 7 98,002,124 (GRCm39) missense probably damaging 1.00
R3429:Tsku UTSW 7 98,001,746 (GRCm39) missense probably damaging 1.00
R3430:Tsku UTSW 7 98,001,746 (GRCm39) missense probably damaging 1.00
R4202:Tsku UTSW 7 98,002,205 (GRCm39) missense probably damaging 0.99
R4205:Tsku UTSW 7 98,002,205 (GRCm39) missense probably damaging 0.99
R4206:Tsku UTSW 7 98,002,205 (GRCm39) missense probably damaging 0.99
R5782:Tsku UTSW 7 98,002,057 (GRCm39) missense probably damaging 0.99
R5818:Tsku UTSW 7 98,001,305 (GRCm39) missense possibly damaging 0.93
R8972:Tsku UTSW 7 98,001,704 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTGAATGGTAGGTGCAGGC -3'
(R):5'- AGTTTCAGCCTGATCCGTG -3'

Sequencing Primer
(F):5'- GGATAGGTCCACGTGCAG -3'
(R):5'- TCCGTGTGGACTGCAGCAG -3'
Posted On 2015-07-06