Incidental Mutation 'R3704:Srgn'
ID 258660
Institutional Source Beutler Lab
Gene Symbol Srgn
Ensembl Gene ENSMUSG00000020077
Gene Name serglycin
Synonyms Prg1, Sgc
MMRRC Submission 040697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R3704 (G1)
Quality Score 217
Status Validated
Chromosome 10
Chromosomal Location 62329612-62363224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62333609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000125533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020271] [ENSMUST00000160643] [ENSMUST00000160987] [ENSMUST00000162161]
AlphaFold P13609
Predicted Effect probably damaging
Transcript: ENSMUST00000020271
AA Change: D56G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160643
Predicted Effect probably damaging
Transcript: ENSMUST00000160987
AA Change: D56G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Serglycin 1 149 8.3e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162161
AA Change: D56G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 91.8%
Validation Efficiency 100% (49/49)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Akap13 T C 7: 75,316,298 (GRCm39) C585R probably damaging Het
Akr1b10 G T 6: 34,371,689 (GRCm39) D285Y probably damaging Het
Akr1b10 A G 6: 34,371,690 (GRCm39) D257G probably benign Het
Ankrd17 A T 5: 90,391,828 (GRCm39) N1838K possibly damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Brwd3 A G X: 107,804,021 (GRCm39) probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cd27 C T 6: 125,210,361 (GRCm39) C222Y probably damaging Het
Cdh12 C A 15: 21,583,912 (GRCm39) T584K probably damaging Het
Col13a1 A G 10: 61,703,608 (GRCm39) probably null Het
Col22a1 T C 15: 71,842,156 (GRCm39) T443A probably damaging Het
Crisp3 A G 17: 40,546,848 (GRCm39) probably benign Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Eci2 A G 13: 35,177,216 (GRCm39) probably benign Het
Fat2 A C 11: 55,200,476 (GRCm39) F866C probably damaging Het
Fbxl7 C A 15: 26,543,841 (GRCm39) G269C probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifi35 G A 11: 101,339,430 (GRCm39) M1I probably null Het
Jarid2 A G 13: 45,055,831 (GRCm39) T308A probably benign Het
Kcnq3 A G 15: 65,893,588 (GRCm39) probably null Het
Kcnt2 C T 1: 140,461,706 (GRCm39) T819M probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Mill1 A G 7: 17,996,978 (GRCm39) T190A possibly damaging Het
Mosmo A G 7: 120,329,828 (GRCm39) I150V probably damaging Het
Nemf C A 12: 69,377,904 (GRCm39) D566Y probably damaging Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Or8b101 T A 9: 38,020,299 (GRCm39) F106I possibly damaging Het
Paip2 A G 18: 35,743,974 (GRCm39) T9A probably benign Het
Pde5a T C 3: 122,572,668 (GRCm39) S318P probably benign Het
Plcd1 T C 9: 118,905,277 (GRCm39) I145V possibly damaging Het
Prl2c2 C T 13: 13,176,810 (GRCm39) R37H probably damaging Het
Raet1e A G 10: 22,056,744 (GRCm39) T107A probably benign Het
Reps1 T G 10: 17,983,428 (GRCm39) F424V probably damaging Het
Skint6 A T 4: 112,993,669 (GRCm39) V401D possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Ttn A T 2: 76,662,124 (GRCm39) probably benign Het
Ugt2b37 A T 5: 87,390,846 (GRCm39) F340L possibly damaging Het
Xirp1 T A 9: 120,016,907 (GRCm38) Q970L probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zmat4 A G 8: 24,287,430 (GRCm39) R59G probably benign 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
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'- GGATGAGTCCATGTTCATTGGC -3'
(R):5'- GACCTGCCAAATGTACAATCCATG -3'

Sequencing Primer
(F):5'- GATGAGTCCATGTTCATTGGCACATC -3'
(R):5'- CCATGTAATTACCTTGTTAGAGACAG -3'
Posted On 2015-01-23