Incidental Mutation 'BB018:Srgn'
ID 643019
Institutional Source Beutler Lab
Gene Symbol Srgn
Ensembl Gene ENSMUSG00000020077
Gene Name serglycin
Synonyms Prg1, Sgc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # BB018
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62329612-62363224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62330763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 114 (M114K)
Ref Sequence ENSEMBL: ENSMUSP00000020271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020271] [ENSMUST00000160643] [ENSMUST00000160987] [ENSMUST00000162161]
AlphaFold P13609
Predicted Effect possibly damaging
Transcript: ENSMUST00000020271
AA Change: M114K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077
AA Change: M114K

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160643
Predicted Effect possibly damaging
Transcript: ENSMUST00000160987
AA Change: M114K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077
AA Change: M114K

DomainStartEndE-ValueType
Pfam:Serglycin 1 149 8.3e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162161
AA Change: M114K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077
AA Change: M114K

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Meta Mutation Damage Score 0.4995 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene lack peritoneal mast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 A T 2: 91,037,060 (GRCm39) probably null Het
Aire G A 10: 77,866,130 (GRCm39) A536V probably damaging Het
Aox4 A G 1: 58,294,645 (GRCm39) I951M probably benign Het
Ash1l G T 3: 88,950,848 (GRCm39) C2190F probably damaging Het
C1s1 C T 6: 124,510,359 (GRCm39) V363M probably damaging Het
Diaph3 A T 14: 87,352,456 (GRCm39) D48E possibly damaging Het
Dnajc13 A G 9: 104,095,763 (GRCm39) V559A probably benign Het
Dzank1 T C 2: 144,323,614 (GRCm39) I610V probably benign Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Igkv4-70 C A 6: 69,244,975 (GRCm39) R82L probably damaging Het
Lnp1 T A 16: 56,748,281 (GRCm39) R4* probably null Het
Lrrc3b T C 14: 15,358,018 (GRCm38) N196S probably benign Het
Mlxip A G 5: 123,588,558 (GRCm39) D816G probably damaging Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Myom3 A T 4: 135,516,947 (GRCm39) H839L probably benign Het
Nebl C T 2: 17,381,433 (GRCm39) probably null Het
Ninj1 T C 13: 49,347,432 (GRCm39) I99T probably damaging Het
Or11g1 A C 14: 50,651,786 (GRCm39) M262L probably damaging Het
Or2l5 A G 16: 19,334,258 (GRCm39) S43P possibly damaging Het
Or4a76 T A 2: 89,460,448 (GRCm39) I265F possibly damaging Het
Or8g55 A T 9: 39,785,146 (GRCm39) T192S possibly damaging Het
Otop1 A G 5: 38,445,364 (GRCm39) H174R probably damaging Het
Pcdhb16 A G 18: 37,611,510 (GRCm39) N157D possibly damaging Het
Prss44 A C 9: 110,643,746 (GRCm39) Q130P probably damaging Het
Ptpn4 T A 1: 119,607,925 (GRCm39) M712L probably damaging Het
Ptprh C A 7: 4,574,987 (GRCm39) S344I probably benign Het
Rps6kl1 T C 12: 85,196,566 (GRCm39) I33V possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn1a T C 2: 66,148,156 (GRCm39) S110G probably damaging Het
Sdk2 C A 11: 113,784,267 (GRCm39) K157N possibly damaging Het
Serpina1d A T 12: 103,733,815 (GRCm39) V163D probably damaging Het
Serpina3g T C 12: 104,205,428 (GRCm39) S56P probably benign Het
Slc4a4 T C 5: 89,318,640 (GRCm39) L636P probably benign Het
Slc6a1 T C 6: 114,288,863 (GRCm39) F474S probably benign Het
Slco6d1 A G 1: 98,356,141 (GRCm39) D235G probably damaging Het
Syne3 A T 12: 104,929,491 (GRCm39) V243E probably damaging Het
Tcf19 A G 17: 35,825,804 (GRCm39) F118L probably damaging Het
Tln2 A T 9: 67,165,742 (GRCm39) probably null Het
Tnxb A G 17: 34,907,672 (GRCm39) T1239A probably damaging Het
Traip A G 9: 107,848,241 (GRCm39) I453M probably benign Het
Vmn1r157 C T 7: 22,461,210 (GRCm39) A30V probably damaging Het
Vmn1r233 G A 17: 21,214,125 (GRCm39) A275V probably benign Het
Vps13d G A 4: 144,822,854 (GRCm39) R2976* probably null Het
Wdr75 T C 1: 45,858,795 (GRCm39) F655L probably benign Het
Wwp1 A G 4: 19,650,114 (GRCm39) probably null Het
Zc3h4 T C 7: 16,166,909 (GRCm39) L747P unknown Het
Zfp268 G A 4: 145,349,126 (GRCm39) D188N possibly damaging Het
Other mutations in Srgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB008:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
R2120:Srgn UTSW 10 62,343,413 (GRCm39) splice site probably benign
R3704:Srgn UTSW 10 62,333,609 (GRCm39) missense probably damaging 0.99
R4155:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4156:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4157:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4782:Srgn UTSW 10 62,333,631 (GRCm39) missense possibly damaging 0.95
R5169:Srgn UTSW 10 62,330,866 (GRCm39) missense probably damaging 1.00
R7595:Srgn UTSW 10 62,343,785 (GRCm39) unclassified probably benign
R7645:Srgn UTSW 10 62,330,757 (GRCm39) nonsense probably null
R7931:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
R8292:Srgn UTSW 10 62,343,447 (GRCm39) missense possibly damaging 0.94
R8324:Srgn UTSW 10 62,343,444 (GRCm39) missense probably damaging 0.99
R9574:Srgn UTSW 10 62,343,444 (GRCm39) missense probably damaging 0.99
R9641:Srgn UTSW 10 62,330,884 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGAGACTGGTCATTTAAACGTGG -3'
(R):5'- TGCAATACTTTGTGTGTACTCCAC -3'

Sequencing Primer
(F):5'- CAGAGACCGTCACATTCA -3'
(R):5'- TGTACTCCACACCTAGTGTATTTC -3'
Posted On 2020-08-01