Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Srgn'

397458

Institutional Source

Beutler Lab

Gene Symbol

Srgn

Ensembl Gene

ENSMUSG00000020077

Gene Name

serglycin

Synonyms

Prg1, Sgc

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62329612-62363224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62330866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 80 (D80Y)

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: D80Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077
AA Change: D80Y

Domain	Start	End	E-Value	Type
Pfam:Serglycin	1	151	9e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160643

Predicted Effect

probably damaging
Transcript: ENSMUST00000160987
AA Change: D80Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077
AA Change: D80Y

Domain	Start	End	E-Value	Type
Pfam:Serglycin	1	149	8.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162161
AA Change: D80Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077
AA Change: D80Y

Domain	Start	End	E-Value	Type
Pfam:Serglycin	1	151	9e-75	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	probably damaging	Het

Other mutations in Srgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTCAGTGAGAATCCTGTCAAAAGG -3'
(R):5'- TTTGAGAAAGGGCTCAGTAGC -3'

Sequencing Primer
(F):5'- GAGAATCCTGTCAAAAGGCTTATAG -3'
(R):5'- GCTGCAGTTCACTATGGATCCAAG -3'

Posted On

2016-07-06