Mutagenetix > Incidental Mutations

Incidental Mutation 'R0454:Gsn'

39835

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

038654-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35256380-35307892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35304639 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 649 (L649P)

Ref Sequence

ENSEMBL: ENSMUSP00000144561 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028239
AA Change: L698P

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

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: L698P

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 damaging
Transcript: ENSMUST00000201185
AA Change: L649P

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

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: L649P

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: ENSMUST00000202990

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	A	G	5: 118,255,821	E88G	possibly damaging	Het
4930447F04Rik	T	C	X: 66,303,668	E91G	unknown	Het
Acot1	A	G	12: 84,017,339	Q407R	probably benign	Het
Adcy10	T	A	1: 165,570,728	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,490,702	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,250,965	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,741,871	E216A	probably damaging	Het
Axin1	T	C	17: 26,173,663	V306A	probably benign	Het
BC005561	T	G	5: 104,518,211	S200A	probably benign	Het
Cct3	T	C	3: 88,302,866		probably null	Het
Cfap58	G	A	19: 47,974,680		probably null	Het
Chd9	T	C	8: 90,973,231	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,710,428		probably null	Het
Col26a1	T	C	5: 136,754,193	N286D	probably benign	Het
Cpt1b	T	A	15: 89,424,393	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,537,087	I30N	probably damaging	Het
Ddc	T	G	11: 11,880,587	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,516,900		probably null	Het
Evc2	T	A	5: 37,417,484	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,731,457	E134G	probably damaging	Het
Fasl	T	C	1: 161,787,954	E111G	probably benign	Het
Fbxw10	A	G	11: 62,876,738	N800S	possibly damaging	Het
Fras1	T	C	5: 96,762,665	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gad1	T	A	2: 70,579,201	M212K	probably damaging	Het
Gm17455	T	G	10: 60,402,973	S6A	probably benign	Het
Grm5	T	C	7: 88,130,789	S1146P	probably damaging	Het
H2-DMb1	A	G	17: 34,155,711	T112A	probably benign	Het
Hcn3	T	A	3: 89,152,894	I148F	probably damaging	Het
Hdac10	T	C	15: 89,125,758		probably null	Het
Hk3	C	A	13: 55,008,705	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,745,497	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,698,875	D275A	probably damaging	Het
Itgam	A	T	7: 128,107,980	N660I	probably benign	Het
Itpr3	T	C	17: 27,113,819	M1853T	probably benign	Het
Lrmp	A	G	6: 145,167,984	R293G	possibly damaging	Het
Lrrc8c	A	C	5: 105,607,099	K247Q	probably damaging	Het
Map3k21	T	C	8: 125,942,119	S815P	probably benign	Het
Mast4	A	G	13: 102,751,560	S1114P	probably damaging	Het
Myh8	C	T	11: 67,303,765	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,570,527	D148G	probably damaging	Het
Nos1	T	A	5: 117,943,320	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874		probably null	Het
Obscn	T	C	11: 58,999,623	D7361G	unknown	Het
Olfr1350	C	T	7: 6,570,360	A123V	probably damaging	Het
Olfr600	C	A	7: 103,346,878	A17S	probably benign	Het
Olfr721-ps1	T	C	14: 14,407,777	V183A	probably damaging	Het
Pank3	T	G	11: 35,777,709	M175R	probably benign	Het
Papolg	A	G	11: 23,879,868		probably null	Het
Pcdhb21	G	A	18: 37,514,513	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,518,872	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,528,782	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,542,522	T87A	possibly damaging	Het
Pld1	T	C	3: 28,124,575	S873P	probably damaging	Het
Pld5	T	A	1: 176,274,729	Y49F	probably benign	Het
Polq	T	C	16: 37,034,890	V449A	probably damaging	Het
Prkca	A	G	11: 107,978,280	V69A	probably benign	Het
Ptk6	A	G	2: 181,202,282	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,582,530	Q1662*	probably null	Het
Ptprt	C	A	2: 161,553,822	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,466,926	W684R	probably damaging	Het
Ryr1	T	A	7: 29,036,075	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,322,226	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,617,597	Y188*	probably null	Het
Slc31a1	C	T	4: 62,385,629		probably benign	Het
Slc5a11	C	G	7: 123,265,235	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,476,867	L387P	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,838	L331Q	probably damaging	Het
Spata32	A	G	11: 103,209,299	W127R	probably damaging	Het
Spta1	T	G	1: 174,213,942	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,594,318	Y176C	probably damaging	Het
Stk10	A	G	11: 32,596,724	E327G	probably damaging	Het
Stxbp5l	T	A	16: 37,134,284	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,720,182	E459K	probably benign	Het
Terf2	C	T	8: 107,096,210	W100*	probably null	Het
Thrsp	T	C	7: 97,417,427	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504	R297L	probably benign	Het
Tmeff2	C	A	1: 50,928,075	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,453,173	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 85,072,137	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286	K107N	probably damaging	Het
Trpa1	A	T	1: 14,885,748		probably null	Het
Trrap	A	G	5: 144,846,477	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,618,269	V14I	probably benign	Het
Usp19	T	C	9: 108,494,240		probably null	Het
Usp28	C	A	9: 49,039,101	D615E	possibly damaging	Het
Utp20	T	C	10: 88,822,069	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,410,998	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,003,461	M96V	probably benign	Het
Wdr90	T	C	17: 25,860,049	E273G	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het
Zscan21	T	C	5: 138,133,603	I463T	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCTGCTCCAACAGGATCG -3'
(R):5'- GGCTTGTAGCCATTCCAGGAAACAC -3'

Sequencing Primer
(F):5'- CAACAGGATCGGACGCTTTG -3'
(R):5'- ACACCTGGTGTTGTCTCTTTTATG -3'

Posted On

2013-05-23