Incidental Mutation 'R4155:Srgn'
ID 315098
Institutional Source Beutler Lab
Gene Symbol Srgn
Ensembl Gene ENSMUSG00000020077
Gene Name serglycin
Synonyms Prg1, Sgc
MMRRC Submission 040999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4155 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62329612-62363224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62333613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 55 (F55L)
Ref Sequence ENSEMBL: ENSMUSP00000125533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020271] [ENSMUST00000160643] [ENSMUST00000160987] [ENSMUST00000162161]
AlphaFold P13609
Predicted Effect possibly damaging
Transcript: ENSMUST00000020271
AA Change: F55L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077
AA Change: F55L

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160643
Predicted Effect possibly damaging
Transcript: ENSMUST00000160987
AA Change: F55L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077
AA Change: F55L

DomainStartEndE-ValueType
Pfam:Serglycin 1 149 8.3e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162161
AA Change: F55L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077
AA Change: F55L

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Meta Mutation Damage Score 0.6246 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Akt3 A G 1: 176,924,543 (GRCm39) I184T possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Armc2 A G 10: 41,887,863 (GRCm39) V40A probably damaging Het
Ash2l A G 8: 26,307,482 (GRCm39) Y485H probably damaging Het
Atr T A 9: 95,770,177 (GRCm39) C1202* probably null Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Birc6 C A 17: 74,903,934 (GRCm39) S1242R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bsx A G 9: 40,787,632 (GRCm39) E102G probably benign Het
Casq2 A T 3: 102,040,418 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Copa T G 1: 171,928,992 (GRCm39) N251K probably damaging Het
Cst8 C A 2: 148,641,996 (GRCm39) A31E possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Fbn2 C A 18: 58,156,359 (GRCm39) E2487* probably null Het
Hoxd9 A G 2: 74,529,667 (GRCm39) I308V probably benign Het
Ica1l G A 1: 60,053,052 (GRCm39) A162V possibly damaging Het
Kcnj15 A T 16: 95,097,166 (GRCm39) K263* probably null Het
Mettl4 T C 17: 95,048,003 (GRCm39) M213V probably benign Het
Nalf1 T A 8: 9,283,023 (GRCm39) Y342F possibly damaging Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Or14a259 T A 7: 86,013,270 (GRCm39) I92L probably benign Het
Or4c127 A G 2: 89,833,004 (GRCm39) S85G probably benign Het
Or52s19 T C 7: 103,008,363 (GRCm39) T13A probably benign Het
Or8d1b A T 9: 38,887,451 (GRCm39) T160S probably damaging Het
P2rx5 A G 11: 73,062,655 (GRCm39) T455A probably damaging Het
Pcdh1 T A 18: 38,336,159 (GRCm39) T159S probably damaging Het
Poln A G 5: 34,166,993 (GRCm39) V755A possibly damaging Het
Pou4f1 C T 14: 104,705,153 (GRCm39) S6N possibly damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Samd4 T A 14: 47,290,403 (GRCm39) M170K possibly damaging Het
Tmcc1 C T 6: 116,110,765 (GRCm39) G176D probably benign Het
Tmem232 A T 17: 65,743,328 (GRCm39) M321K probably damaging Het
Tnfsf11 A G 14: 78,537,309 (GRCm39) M118T probably benign Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Ttc27 T G 17: 75,147,455 (GRCm39) I669S probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Wdr64 T A 1: 175,597,172 (GRCm39) L73H probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Other mutations in Srgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB008:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
BB018: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
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'- TGAGTCCATGTTCATTGGCACATC -3'
(R):5'- TGCGACCTGCCAAATGTAC -3'

Sequencing Primer
(F):5'- ATTGGCACATCTCTTGCTTCAG -3'
(R):5'- CCATGTAATTACCTTGTTAGAGACAG -3'
Posted On 2015-05-14