Mutagenetix > Incidental Mutations

Incidental Mutation 'R7036:Gsn'

546656

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35256380-35307892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35292599 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 187 (W187R)

Ref Sequence

ENSEMBL: ENSMUSP00000144296 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028239
AA Change: W225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: W225R

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 damaging
Transcript: ENSMUST00000142324
AA Change: W176R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: W176R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201185
AA Change: W176R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: W176R

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 damaging
Transcript: ENSMUST00000202899
AA Change: W176R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: W176R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202990
AA Change: W187R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: W187R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256		probably null	Het
9030624J02Rik	T	C	7: 118,773,092	S290P	probably damaging	Het
9130011E15Rik	A	G	19: 45,965,249	I195T	probably damaging	Het
Ahnak2	A	G	12: 112,778,781		probably benign	Het
Akt2	T	C	7: 27,637,012		probably null	Het
Aldh1a7	A	T	19: 20,708,178	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,946,392		probably benign	Het
Ank3	C	T	10: 69,999,379	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,154,468	E145Q	probably benign	Het
Armc8	C	T	9: 99,483,965		probably null	Het
Arsj	T	C	3: 126,365,000	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,987,310	T244I	probably damaging	Het
Bcl6	A	T	16: 23,974,861	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,826,923	T579S	possibly damaging	Het
Btaf1	C	A	19: 37,004,469	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303	S324G	probably benign	Het
Cd2ap	A	T	17: 42,798,599	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,341,378	I379V	probably benign	Het
Cndp2	T	A	18: 84,669,945	H307L	possibly damaging	Het
Derl1	A	G	15: 57,879,047		probably null	Het
Dixdc1	T	A	9: 50,682,564	R254S	probably benign	Het
Dopey2	T	A	16: 93,777,490	D30E	probably benign	Het
Duox2	T	G	2: 122,280,453	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,686,568	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991	K508Q	probably damaging	Het
Emc8	A	T	8: 120,659,051	V108E	probably benign	Het
Epb41l1	A	G	2: 156,529,402	T720A	probably benign	Het
Fam126b	T	A	1: 58,535,537	M282L	probably benign	Het
Fam71b	G	A	11: 46,407,408	S513N		Het
Fcgr4	T	A	1: 171,020,088	M85K	probably benign	Het
Fem1b	T	A	9: 62,797,028	I317F	probably damaging	Het
Focad	A	G	4: 88,124,637	E36G	probably benign	Het
Fryl	C	T	5: 73,055,608	E2275K	probably benign	Het
Galnt11	T	C	5: 25,258,813	I361T	probably damaging	Het
Gatad2a	A	T	8: 69,917,994	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 40,887,556		probably null	Het
Gm884	T	A	11: 103,615,812		probably benign	Het
Gramd1a	A	G	7: 31,132,756		probably null	Het
Hoxc12	G	A	15: 102,938,360	G229D	probably damaging	Het
Ints14	T	C	9: 64,964,545	V55A	probably benign	Het
Itga9	T	C	9: 118,698,365	L528P	probably benign	Het
Klf1	C	T	8: 84,902,750	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,478,743	E333G	probably null	Het
Krt39	A	C	11: 99,521,236	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337	I312T	probably benign	Het
Lrp1b	T	C	2: 41,112,342	D2001G	possibly damaging	Het
Lrrc71	T	C	3: 87,748,386	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,563,009	V958A	possibly damaging	Het
Med15	A	T	16: 17,698,155	M1K	probably null	Het
Mrgpra3	G	T	7: 47,590,090	N29K	possibly damaging	Het
Myl1	T	C	1: 66,930,236	N79S	probably damaging	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Nat10	T	C	2: 103,754,108	N108S	probably benign	Het
Ncald	A	T	15: 37,368,878	S178T	probably benign	Het
Ndufs2	T	C	1: 171,238,308	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723	N280S	probably benign	Het
Olfr1167	T	A	2: 88,149,125	D298V	probably damaging	Het
Olfr995	A	G	2: 85,438,430	S243P	probably damaging	Het
Parp1	G	T	1: 180,598,252	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,308,782	C382S	possibly damaging	Het
Plce1	A	G	19: 38,739,357	N1520S	probably damaging	Het
Plcg2	G	A	8: 117,596,306	R700H	probably benign	Het
Popdc2	A	T	16: 38,362,811	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,248,338	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628		probably null	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,614,435	*44W	probably null	Het
Qars	T	A	9: 108,514,777	V83E	probably damaging	Het
Rrh	T	C	3: 129,815,693	E55G	possibly damaging	Het
Sash1	C	A	10: 8,730,083	E848*	probably null	Het
Sds	A	T	5: 120,480,847	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,438,418		probably benign	Het
Sh2b2	G	A	5: 136,218,885	T604I	probably benign	Het
Smug1	A	G	15: 103,155,942	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258	E100G	probably damaging	Het
Tbx1	G	T	16: 18,586,801	P38T	unknown	Het
Tcl1	T	C	12: 105,217,601		probably benign	Het
Teddm2	T	C	1: 153,850,574	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536		probably benign	Het
Trpm2	T	C	10: 77,912,592	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdr70	T	C	15: 7,884,374	D598G	possibly damaging	Het
Ybey	T	C	10: 76,468,363	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387	Q308L	probably benign	Het
Zfp872	C	T	9: 22,200,560	P445L	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
R7018:Gsn	UTSW	2	35293506	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- CAAATCACTCCATTGCCCTTGG -3'
(R):5'- GCTGGGAGGACCTCTTTCTTAG -3'

Sequencing Primer
(F):5'- TCCATTGCCCTTGGGTGACG -3'
(R):5'- GGAGGACCTCTTTCTTAGCCTGC -3'

Posted On

2019-05-13