Incidental Mutation 'R3786:Spatc1l'
ID 272263
Institutional Source Beutler Lab
Gene Symbol Spatc1l
Ensembl Gene ENSMUSG00000009115
Gene Name spermatogenesis and centriole associated 1 like
Synonyms 1700022B01Rik, 1700027D21Rik
MMRRC Submission 040753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3786 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 76398106-76406035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76399736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 86 (T86I)
Ref Sequence ENSEMBL: ENSMUSP00000101054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009259] [ENSMUST00000105414]
AlphaFold Q9D9W0
Predicted Effect probably benign
Transcript: ENSMUST00000009259
AA Change: T86I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: T86I

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 1.9e-49 PFAM
Pfam:Speriolin_C 197 342 3e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105414
AA Change: T86I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115
AA Change: T86I

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 3.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136382
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T A 3: 97,066,605 (GRCm39) L41Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Btbd7 C T 12: 102,804,411 (GRCm39) E210K probably benign Het
C1qtnf12 G A 4: 156,050,356 (GRCm39) R231H probably damaging Het
Cenpf T A 1: 189,390,534 (GRCm39) E1099D probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dzip3 C A 16: 48,795,906 (GRCm39) C155F probably benign Het
Fam161b A T 12: 84,408,464 (GRCm39) probably null Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Hnrnpl A G 7: 28,510,436 (GRCm39) probably benign Het
Itgb1 T A 8: 129,439,839 (GRCm39) I176N probably damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Mgat4c A G 10: 102,220,931 (GRCm39) H71R probably damaging Het
Misp G A 10: 79,661,795 (GRCm39) V71I probably benign Het
Muc2 A G 7: 141,283,590 (GRCm39) Q734R probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Myh13 A G 11: 67,218,014 (GRCm39) N29S probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neb C A 2: 52,091,927 (GRCm39) V5046F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nrg1 A T 8: 32,311,411 (GRCm39) V376E probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Odr4 A G 1: 150,260,282 (GRCm39) I112T probably benign Het
Ppp1r21 T A 17: 88,884,555 (GRCm39) probably null Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Rhoc T C 3: 104,700,003 (GRCm39) probably null Het
Robo3 A G 9: 37,333,521 (GRCm39) V708A probably damaging Het
Rtcb G T 10: 85,778,458 (GRCm39) T395K possibly damaging Het
Rttn A G 18: 89,056,018 (GRCm39) T967A probably benign Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Smarca4 A G 9: 21,583,355 (GRCm39) H1062R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tsc1 A G 2: 28,577,154 (GRCm39) D1151G probably damaging Het
Ttll1 T C 15: 83,368,419 (GRCm39) D413G probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Wnt16 A G 6: 22,298,021 (GRCm39) N296D probably benign Het
Other mutations in Spatc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Spatc1l APN 10 76,405,490 (GRCm39) splice site probably benign
R0587:Spatc1l UTSW 10 76,400,011 (GRCm39) missense possibly damaging 0.76
R1079:Spatc1l UTSW 10 76,399,741 (GRCm39) missense probably damaging 1.00
R1909:Spatc1l UTSW 10 76,399,751 (GRCm39) missense probably damaging 0.99
R2050:Spatc1l UTSW 10 76,399,892 (GRCm39) missense probably damaging 1.00
R4016:Spatc1l UTSW 10 76,398,323 (GRCm39) missense probably benign 0.00
R4803:Spatc1l UTSW 10 76,405,206 (GRCm39) missense probably damaging 1.00
R6620:Spatc1l UTSW 10 76,405,756 (GRCm39) missense probably damaging 1.00
R6896:Spatc1l UTSW 10 76,405,242 (GRCm39) missense probably damaging 1.00
R7143:Spatc1l UTSW 10 76,405,765 (GRCm39) missense probably damaging 1.00
R7832:Spatc1l UTSW 10 76,398,224 (GRCm39) missense probably benign 0.02
R9285:Spatc1l UTSW 10 76,398,264 (GRCm39) missense probably damaging 1.00
R9293:Spatc1l UTSW 10 76,405,200 (GRCm39) missense probably damaging 1.00
R9774:Spatc1l UTSW 10 76,405,168 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCCCTCTATCTCCAGATGAAATGC -3'
(R):5'- AGCAGTGTTTTGTCAGCCAG -3'

Sequencing Primer
(F):5'- TCTATCTCCAGATGAAATGCCAGGG -3'
(R):5'- TTTGTCAGCCAGGGAGTCC -3'
Posted On 2015-03-25