Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Gsn'

545430

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35256380-35307892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35293506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 242 (E242G)

Ref Sequence

ENSEMBL: ENSMUSP00000144296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028239] [ENSMUST00000139867] [ENSMUST00000142324] [ENSMUST00000201185] [ENSMUST00000202899] [ENSMUST00000202990]

AlphaFold

P13020

Predicted Effect

probably benign
Transcript: ENSMUST00000028239
AA Change: E280G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: E280G

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
GEL	64	162	7.31e-30	SMART
GEL	183	275	1.53e-32	SMART
GEL	299	394	2.59e-30	SMART
GEL	443	540	9.28e-32	SMART
GEL	561	646	1.67e-24	SMART
GEL	666	761	4.04e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139867

SMART Domains

Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879

Domain	Start	End	E-Value	Type
GEL	26	124	4.9e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142324
AA Change: E231G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: E231G

Domain	Start	End	E-Value	Type
GEL	15	113	7.31e-30	SMART
GEL	134	226	1.53e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201185
AA Change: E231G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: E231G

Domain	Start	End	E-Value	Type
GEL	15	113	4.9e-32	SMART
GEL	134	226	9.6e-35	SMART
GEL	250	345	1.6e-32	SMART
GEL	394	491	5.8e-34	SMART
GEL	512	597	1.1e-26	SMART
GEL	617	712	2.7e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202899
AA Change: E231G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: E231G

Domain	Start	End	E-Value	Type
GEL	15	113	4.9e-32	SMART
GEL	134	226	9.6e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202990
AA Change: E242G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: E242G

Domain	Start	End	E-Value	Type
GEL	26	124	4.9e-32	SMART
GEL	145	237	9.6e-35	SMART
GEL	261	356	1.6e-32	SMART
GEL	405	502	5.8e-34	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system. In addition, there are background related effects on viability and mammary gland development. [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
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Gsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Gsn	APN	2	35284037	missense	probably damaging	1.00
IGL02119:Gsn	APN	2	35302495	missense	probably damaging	1.00
IGL02512:Gsn	APN	2	35283950	nonsense	probably null
IGL02550:Gsn	APN	2	35282607	intron	probably benign
IGL02975:Gsn	APN	2	35304654	missense	probably benign	0.25
IGL03061:Gsn	APN	2	35282459	intron	probably benign
R0321:Gsn	UTSW	2	35290396	missense	probably benign	0.03
R0454:Gsn	UTSW	2	35304639	missense	probably damaging	1.00
R1446:Gsn	UTSW	2	35306586	missense	probably benign	0.04
R1760:Gsn	UTSW	2	35284823	missense	probably damaging	1.00
R1974:Gsn	UTSW	2	35301471	missense	probably damaging	1.00
R2258:Gsn	UTSW	2	35290337	missense	probably damaging	1.00
R2260:Gsn	UTSW	2	35290337	missense	probably damaging	1.00
R2281:Gsn	UTSW	2	35283918	missense	probably benign	0.01
R2495:Gsn	UTSW	2	35303193	missense	probably damaging	1.00
R2516:Gsn	UTSW	2	35283953	missense	probably benign
R3896:Gsn	UTSW	2	35302638	missense	possibly damaging	0.92
R4003:Gsn	UTSW	2	35283983	missense	probably benign	0.38
R4006:Gsn	UTSW	2	35307621	nonsense	probably null
R4281:Gsn	UTSW	2	35298871	missense	probably damaging	1.00
R4291:Gsn	UTSW	2	35290420	missense	probably benign	0.14
R4692:Gsn	UTSW	2	35298871	missense	probably damaging	1.00
R4850:Gsn	UTSW	2	35283900	splice site	probably null
R4895:Gsn	UTSW	2	35302578	missense	probably damaging	1.00
R5011:Gsn	UTSW	2	35298921	missense	probably damaging	1.00
R5013:Gsn	UTSW	2	35298921	missense	probably damaging	1.00
R5290:Gsn	UTSW	2	35296472	missense	probably benign	0.01
R6472:Gsn	UTSW	2	35290451	splice site	probably null
R6764:Gsn	UTSW	2	35284044	missense	probably damaging	1.00
R7036:Gsn	UTSW	2	35292599	missense	probably damaging	1.00
R7097:Gsn	UTSW	2	35295049	nonsense	probably null
R7122:Gsn	UTSW	2	35295049	nonsense	probably null
R7183:Gsn	UTSW	2	35294948	missense	probably benign	0.00
R7203:Gsn	UTSW	2	35298795	missense	probably benign	0.00
R7456:Gsn	UTSW	2	35282706	missense	possibly damaging	0.84
R7488:Gsn	UTSW	2	35296421	missense	possibly damaging	0.65
R7880:Gsn	UTSW	2	35283927	missense	probably damaging	1.00
R8088:Gsn	UTSW	2	35292647	missense	possibly damaging	0.77
R9472:Gsn	UTSW	2	35292729	missense	probably damaging	1.00
R9479:Gsn	UTSW	2	35296215	critical splice donor site	probably null
R9568:Gsn	UTSW	2	35283991	missense	probably benign	0.02
R9777:Gsn	UTSW	2	35304588	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGGAAAGTCCAGCCTGG -3'
(R):5'- TACGGATGGACTCAGCATCC -3'

Sequencing Primer
(F):5'- ACTTGATGAGAGCTCGTTCTC -3'
(R):5'- GGACTCAGCATCCCCGCTTAC -3'

Posted On

2019-05-13