Incidental Mutation 'R7959:Serhl'
ID 650014
Institutional Source Beutler Lab
Gene Symbol Serhl
Ensembl Gene ENSMUSG00000058586
Gene Name serine hydrolase-like
Synonyms 1110019M09Rik
MMRRC Submission 046003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7959 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82984394-83000876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82986073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 62 (D62V)
Ref Sequence ENSEMBL: ENSMUSP00000132686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078218] [ENSMUST00000166427] [ENSMUST00000167389] [ENSMUST00000167862] [ENSMUST00000168029]
AlphaFold Q9EPB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000078218
AA Change: D52V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077345
Gene: ENSMUSG00000058586
AA Change: D52V

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 28 282 1.4e-10 PFAM
Pfam:Abhydrolase_6 29 295 2.9e-28 PFAM
Pfam:Abhydrolase_1 53 260 1.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166427
AA Change: D62V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132686
Gene: ENSMUSG00000058586
AA Change: D62V

DomainStartEndE-ValueType
Pfam:Hydrolase_4 33 194 7.4e-11 PFAM
Pfam:Abhydrolase_1 37 299 4e-20 PFAM
Pfam:Abhydrolase_5 38 292 4.4e-10 PFAM
Pfam:Abhydrolase_6 39 305 6.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167389
AA Change: D2V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128251
Gene: ENSMUSG00000058586
AA Change: D2V

DomainStartEndE-ValueType
Pfam:Abhydrolase_6 2 54 4.3e-8 PFAM
Pfam:Abhydrolase_1 3 54 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167862
Predicted Effect probably benign
Transcript: ENSMUST00000168029
SMART Domains Protein: ENSMUSP00000128802
Gene: ENSMUSG00000058586

DomainStartEndE-ValueType
Pfam:Abhydrolase_1 1 96 3.3e-15 PFAM
Pfam:Abhydrolase_6 1 97 2.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169814
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,988,013 (GRCm39) V3099A possibly damaging Het
Apba2 A G 7: 64,345,571 (GRCm39) M254V probably benign Het
Bbs7 C T 3: 36,657,085 (GRCm39) D248N probably damaging Het
Ccdc168 T C 1: 44,096,728 (GRCm39) I1457V probably benign Het
Cldn8 A G 16: 88,359,829 (GRCm39) V32A probably damaging Het
Col4a4 G T 1: 82,484,780 (GRCm39) P496T unknown Het
Cyp27a1 T A 1: 74,776,236 (GRCm39) N417K probably benign Het
Dnah7a T C 1: 53,682,621 (GRCm39) D283G probably benign Het
Efcab3 A G 11: 104,933,627 (GRCm39) K4878E probably damaging Het
Elp1 A T 4: 56,774,737 (GRCm39) M746K probably damaging Het
Fmn1 T A 2: 113,195,967 (GRCm39) Y556N unknown Het
Fsip2 T C 2: 82,816,120 (GRCm39) I3951T possibly damaging Het
Gigyf1 C T 5: 137,522,581 (GRCm39) T773I probably damaging Het
Heatr6 A T 11: 83,672,189 (GRCm39) K1066* probably null Het
Mdfic T C 6: 15,741,070 (GRCm39) S142P possibly damaging Het
Mettl16 A G 11: 74,707,852 (GRCm39) I389V probably benign Het
Mia3 T C 1: 183,125,760 (GRCm39) Y57C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup160 T C 2: 90,544,239 (GRCm39) probably null Het
Or1e1 T C 11: 73,244,744 (GRCm39) L55P probably damaging Het
Or2n1e A G 17: 38,586,602 (GRCm39) *313W probably null Het
Or52a24 T A 7: 103,382,015 (GRCm39) V294D probably damaging Het
Or8b1b T A 9: 38,376,211 (GRCm39) S291R probably damaging Het
Or9s13 T A 1: 92,548,029 (GRCm39) C134S probably damaging Het
Pierce1 A T 2: 28,352,369 (GRCm39) N131K probably damaging Het
Plcxd1 A T 5: 110,251,422 (GRCm39) I333F probably damaging Het
Plxna2 C A 1: 194,493,270 (GRCm39) S1848R probably damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pnpla2 T A 7: 141,037,406 (GRCm39) D136E probably benign Het
Polr1b T A 2: 128,950,014 (GRCm39) F245I probably damaging Het
Prmt9 T A 8: 78,287,594 (GRCm39) I245N probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Spata13 C T 14: 60,993,679 (GRCm39) R1044* probably null Het
Strbp G A 2: 37,530,906 (GRCm39) T116I probably benign Het
Supt5 T C 7: 28,015,224 (GRCm39) D977G probably benign Het
Tmem184c A G 8: 78,329,532 (GRCm39) V176A possibly damaging Het
Uhrf2 A G 19: 30,063,660 (GRCm39) N541S probably damaging Het
Vmn2r24 T A 6: 123,755,949 (GRCm39) F7Y possibly damaging Het
Vmn2r27 T C 6: 124,169,040 (GRCm39) R697G probably benign Het
Zfp994 A G 17: 22,421,761 (GRCm39) V18A probably damaging Het
Other mutations in Serhl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Serhl APN 15 82,988,574 (GRCm39) missense probably benign 0.15
IGL00425:Serhl APN 15 82,989,838 (GRCm39) missense possibly damaging 0.79
slowcow UTSW 15 82,985,843 (GRCm39) critical splice acceptor site probably null
R1544:Serhl UTSW 15 82,989,877 (GRCm39) missense probably damaging 1.00
R2119:Serhl UTSW 15 82,999,776 (GRCm39) missense probably benign 0.19
R2320:Serhl UTSW 15 82,986,073 (GRCm39) missense probably damaging 0.99
R3236:Serhl UTSW 15 82,988,604 (GRCm39) missense probably damaging 0.96
R5156:Serhl UTSW 15 82,986,895 (GRCm39) unclassified probably benign
R5256:Serhl UTSW 15 82,986,835 (GRCm39) missense probably damaging 1.00
R5822:Serhl UTSW 15 83,000,528 (GRCm39) missense probably benign 0.02
R5951:Serhl UTSW 15 82,987,237 (GRCm39) unclassified probably benign
R6385:Serhl UTSW 15 82,985,823 (GRCm39) missense probably benign
R6521:Serhl UTSW 15 82,985,843 (GRCm39) critical splice acceptor site probably null
R8754:Serhl UTSW 15 82,986,126 (GRCm39) missense probably benign 0.01
R8956:Serhl UTSW 15 82,985,899 (GRCm39) missense possibly damaging 0.93
R9451:Serhl UTSW 15 82,987,167 (GRCm39) missense possibly damaging 0.94
R9748:Serhl UTSW 15 82,998,597 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCACATTGCTCTCAAAGTC -3'
(R):5'- AGAAACCCCAGGTATCCGTTC -3'

Sequencing Primer
(F):5'- CACATTGCTCTCAAAGTCTGGGG -3'
(R):5'- TATCCGTTCCCAGGCCAG -3'
Posted On 2020-09-15