Incidental Mutation 'R1275:Shld1'
ID 150857
Institutional Source Beutler Lab
Gene Symbol Shld1
Ensembl Gene ENSMUSG00000044991
Gene Name shieldin complex subunit 1
Synonyms 1110034G24Rik
MMRRC Submission 039341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1275 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 132528871-132592975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132534015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000118968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061891] [ENSMUST00000110132] [ENSMUST00000148271]
AlphaFold Q9D112
Predicted Effect probably benign
Transcript: ENSMUST00000061891
AA Change: S48P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057009
Gene: ENSMUSG00000044991
AA Change: S48P

DomainStartEndE-ValueType
Pfam:DUF4521 1 206 2.3e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110132
AA Change: S48P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105759
Gene: ENSMUSG00000044991
AA Change: S48P

DomainStartEndE-ValueType
Pfam:DUF4521 1 204 3.4e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147868
Predicted Effect probably benign
Transcript: ENSMUST00000148271
AA Change: S48P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118968
Gene: ENSMUSG00000044991
AA Change: S48P

DomainStartEndE-ValueType
Pfam:DUF4521 1 156 6e-80 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdhr18 T C 14: 13,896,949 (GRCm38) Y142C probably damaging Het
Clstn2 C T 9: 97,339,483 (GRCm39) V793I probably benign Het
Coro1a C T 7: 126,299,755 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Efcab14 T G 4: 115,613,670 (GRCm39) L206R probably damaging Het
Ehmt1 A G 2: 24,777,007 (GRCm39) probably null Het
Fosl2 C T 5: 32,307,798 (GRCm39) R130W probably damaging Het
Gfral A G 9: 76,104,314 (GRCm39) C233R probably damaging Het
Ino80 T C 2: 119,257,536 (GRCm39) T765A probably benign Het
Mindy3 A T 2: 12,400,984 (GRCm39) probably null Het
Myo15b CGGAGGAGGAGGAGGAGGAG CGGAGGAGGAGGAGGAG 11: 115,774,318 (GRCm39) probably benign Het
Nup50l T C 6: 96,142,099 (GRCm39) E315G probably benign Het
Osbpl11 T A 16: 33,006,220 (GRCm39) M16K probably benign Het
Rassf7 T A 7: 140,797,060 (GRCm39) L91Q probably damaging Het
Unc13b A G 4: 43,235,366 (GRCm39) K3318R probably damaging Het
Vmn1r234 CTT CTTT 17: 21,449,513 (GRCm39) probably null Het
Zfp930 A G 8: 69,680,631 (GRCm39) K108E possibly damaging Het
Other mutations in Shld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Shld1 APN 2 132,533,866 (GRCm39) splice site probably benign
R0243:Shld1 UTSW 2 132,592,559 (GRCm39) missense probably benign 0.01
R2518:Shld1 UTSW 2 132,592,447 (GRCm39) missense probably damaging 0.99
R6903:Shld1 UTSW 2 132,592,564 (GRCm39) nonsense probably null
R7840:Shld1 UTSW 2 132,592,510 (GRCm39) missense probably damaging 0.98
R8368:Shld1 UTSW 2 132,592,433 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCTCACAACGAAGGGAACTTGG -3'
(R):5'- AATGACCACATGTCTGTGCCTCTG -3'

Sequencing Primer
(F):5'- TGGTAGCTCCTACTCCACAGAC -3'
(R):5'- gggagggagggagggag -3'
Posted On 2014-01-29