Mutagenetix > Incidental Mutation

Incidental Mutation 'R7595:Srgn'

587682

Institutional Source

Beutler Lab

Gene Symbol

Srgn

Ensembl Gene

ENSMUSG00000020077

Gene Name

serglycin

Synonyms

Prg1, Sgc

MMRRC Submission

045640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7595 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62329612-62363224 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 62343785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020271] [ENSMUST00000159020] [ENSMUST00000160643] [ENSMUST00000160987] [ENSMUST00000162161]

AlphaFold

P13609

Predicted Effect

probably benign
Transcript: ENSMUST00000020271

SMART Domains

Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159020

Predicted Effect

probably benign
Transcript: ENSMUST00000160643

Predicted Effect

probably benign
Transcript: ENSMUST00000160987

SMART Domains

Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162161

SMART Domains

Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts16	A	G	13: 70,878,234 (GRCm39)	F1177S	probably damaging	Het
Alox12	T	A	11: 70,133,230 (GRCm39)	E658V	probably damaging	Het
Anxa6	C	A	11: 54,875,911 (GRCm39)	V591L	probably benign	Het
Atp6ap1l	A	T	13: 91,039,135 (GRCm39)	S141T	probably damaging	Het
Bcar1	A	C	8: 112,447,625 (GRCm39)	N117K	probably benign	Het
Cdh22	A	G	2: 164,954,383 (GRCm39)	S713P	probably benign	Het
Cideb	T	C	14: 55,992,261 (GRCm39)	D144G	probably damaging	Het
Coch	T	A	12: 51,645,016 (GRCm39)	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,189,089 (GRCm39)	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,378,633 (GRCm39)	L331R	probably damaging	Het
Dthd1	A	G	5: 62,976,058 (GRCm39)	D244G	probably benign	Het
Dytn	T	C	1: 63,698,161 (GRCm39)	E282G	probably damaging	Het
Eml4	A	G	17: 83,763,513 (GRCm39)	Q576R	probably benign	Het
Fa2h	T	A	8: 112,082,122 (GRCm39)	I175F	probably benign	Het
Fv1	A	G	4: 147,954,627 (GRCm39)	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm5592	A	G	7: 40,935,867 (GRCm39)	D123G	probably damaging	Het
Golph3l	A	G	3: 95,517,094 (GRCm39)	T201A	probably benign	Het
Ikbip	A	G	10: 90,932,447 (GRCm39)	S364G	probably benign	Het
Kcnc3	G	A	7: 44,240,893 (GRCm39)	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,536,704 (GRCm39)	D641E	probably benign	Het
Kif26a	C	T	12: 112,145,759 (GRCm39)	P1757S	probably benign	Het
Klf14	T	C	6: 30,935,475 (GRCm39)	K53R	probably benign	Het
Klk1b4	A	G	7: 43,860,132 (GRCm39)	D82G	probably benign	Het
Ly75	A	G	2: 60,124,171 (GRCm39)	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 39,879,221 (GRCm39)	Y225*	probably null	Het
Or8g20	A	C	9: 39,395,611 (GRCm39)	F313V	probably benign	Het
Pcsk4	T	A	10: 80,157,935 (GRCm39)	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,358,917 (GRCm39)	D375E	probably damaging	Het
Primpol	A	G	8: 47,063,650 (GRCm39)	L2S	probably benign	Het
Ralgapb	G	A	2: 158,268,085 (GRCm39)	V63I	possibly damaging	Het
Rptor	T	A	11: 119,634,779 (GRCm39)	N198K	possibly damaging	Het
Samd5	T	C	10: 9,504,738 (GRCm39)	N172S	probably benign	Het
Sorbs1	A	T	19: 40,303,097 (GRCm39)	H542Q	probably damaging	Het
Spopfm1	A	G	3: 94,173,985 (GRCm39)	E327G	probably benign	Het
Spopfm3	A	G	3: 94,105,724 (GRCm39)	D14G	probably benign	Het
Taar6	C	T	10: 23,860,968 (GRCm39)	V193I	probably benign	Het
Tmem132a	G	A	19: 10,835,569 (GRCm39)	A987V	probably damaging	Het
Trank1	T	C	9: 111,195,059 (GRCm39)	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,787,135 (GRCm39)	L714P	probably benign	Het
Wdfy4	C	T	14: 32,696,111 (GRCm39)		probably null	Het
Zswim9	T	C	7: 12,994,998 (GRCm39)	D386G	probably benign	Het
Zwilch	A	G	9: 64,056,546 (GRCm39)		probably benign	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
R5169:Srgn	UTSW	10	62,330,866 (GRCm39)	missense	probably damaging	1.00
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'- TCTGTCCCTTTTAGAAAGAGGTTC -3'
(R):5'- GAATGTTCCCTGCTTGTGCC -3'

Sequencing Primer
(F):5'- CGTCACAGTTTCCTGAACAAATAG -3'
(R):5'- TGCCTGACTCTGTGCGC -3'

Posted On

2019-10-24