Incidental Mutation 'R4157:Srgn'
ID 315586
Institutional Source Beutler Lab
Gene Symbol Srgn
Ensembl Gene ENSMUSG00000020077
Gene Name serglycin
Synonyms Prg1, Sgc
MMRRC Submission 041000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4157 (G1)
Quality Score 225
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 95% (52/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,070,414 (GRCm39) R585L probably damaging Het
Adamtsl5 C T 10: 80,181,156 (GRCm39) R75Q probably null Het
Ankrd26 T A 6: 118,484,782 (GRCm39) Q1485L probably damaging Het
Apbb2 G A 5: 66,459,947 (GRCm39) R717* probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,365,591 (GRCm39) E735G probably damaging Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
C4b A G 17: 34,961,829 (GRCm39) I139T probably damaging Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdk8 A T 5: 146,236,259 (GRCm39) probably benign Het
Ctif T C 18: 75,568,341 (GRCm39) H599R probably benign Het
Degs1 A G 1: 182,110,192 (GRCm39) I26T possibly damaging Het
Dnajc4 T C 19: 6,967,208 (GRCm39) N72S probably damaging Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Gm3486 G A 14: 41,208,343 (GRCm39) L123F probably benign Het
Inpp5f C T 7: 128,281,423 (GRCm39) probably benign Het
Irx4 A T 13: 73,413,662 (GRCm39) Q44L probably benign Het
Krt9 T A 11: 100,079,475 (GRCm39) Y639F unknown Het
Lgals9 C A 11: 78,863,933 (GRCm39) V71L possibly damaging Het
Mdga1 T C 17: 30,052,317 (GRCm39) N143S probably benign Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Nup50l C G 6: 96,142,264 (GRCm39) W260S possibly damaging Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Orm2 T A 4: 63,282,222 (GRCm39) F133L probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Pidd1 A G 7: 141,021,279 (GRCm39) V333A possibly damaging Het
Ppp4r3a A G 12: 101,021,878 (GRCm39) F341L probably damaging Het
Rab11fip1 A T 8: 27,642,175 (GRCm39) S875T probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snx22 T C 9: 65,975,493 (GRCm39) Y92C probably damaging Het
Swt1 A T 1: 151,278,795 (GRCm39) V454E probably damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b A G 14: 16,384,491 (GRCm38) N80S probably benign Het
Trim7 T C 11: 48,738,920 (GRCm39) V313A probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Ubr3 T C 2: 69,790,013 (GRCm39) probably null Het
Utp20 A G 10: 88,597,729 (GRCm39) V121A probably benign Het
Wdr20 G A 12: 110,704,608 (GRCm39) R49H possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp398 A T 6: 47,812,843 (GRCm39) T5S probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Zfp523 C T 17: 28,421,257 (GRCm39) A367V probably benign Het
Zfp748 G A 13: 67,690,225 (GRCm39) S345L possibly 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
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
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'- TTCCAAGGCTTATCGCTGC -3'
(R):5'- ACCTTGTTAGAGACAGTGTAACC -3'

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