Mutagenetix > Incidental Mutation

Incidental Mutation 'R5011:Gsn'

390476

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

042602-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R5011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35146392-35197904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35188933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 440 (Y440N)

Ref Sequence

ENSEMBL: ENSMUSP00000144561 (fasta)

Gene Model

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

AlphaFold

P13020

Predicted Effect

probably damaging
Transcript: ENSMUST00000028239
AA Change: Y489N

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

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: Y489N

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: Y440N

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

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: Y440N

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: ENSMUST00000202990
AA Change: Y451N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: Y451N

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

0.9694

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (104/104)

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
1810010H24Rik	T	C	11: 106,919,324 (GRCm39)	V223A	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Atg16l1	C	A	1: 87,701,902 (GRCm39)	S248*	probably null	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Atxn1	T	C	13: 45,710,545 (GRCm39)	N796D	probably damaging	Het
C3	T	A	17: 57,530,236 (GRCm39)	Y455F	probably benign	Het
Card11	A	T	5: 140,862,275 (GRCm39)	D1007E	possibly damaging	Het
Cbr2	T	C	11: 120,621,697 (GRCm39)	D60G	possibly damaging	Het
Cgn	T	A	3: 94,683,455 (GRCm39)	E400V	probably null	Het
Chil3	T	A	3: 106,057,477 (GRCm39)	Y229F	possibly damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Clk1	T	C	1: 58,453,642 (GRCm39)	I315V	probably benign	Het
Cops6	A	G	5: 138,160,459 (GRCm39)	D102G	probably benign	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnaaf5	T	A	5: 139,149,012 (GRCm39)	L437Q	probably damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Draxin	C	A	4: 148,192,436 (GRCm39)	R292L	probably damaging	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fat1	A	T	8: 45,484,300 (GRCm39)		probably null	Het
Fbxl18	A	G	5: 142,872,435 (GRCm39)	S267P	probably damaging	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Fgd2	T	C	17: 29,593,954 (GRCm39)		probably null	Het
Gm7251	T	A	13: 49,958,656 (GRCm39)		noncoding transcript	Het
Golt1a	T	C	1: 133,248,006 (GRCm39)	V78A	probably damaging	Het
Gtf2ird2	G	T	5: 134,245,824 (GRCm39)	S694I	possibly damaging	Het
H2-Ob	T	A	17: 34,460,253 (GRCm39)		probably null	Het
Hsp90b1	T	C	10: 86,532,617 (GRCm39)	D353G	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itga7	G	A	10: 128,785,316 (GRCm39)	V836M	possibly damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Ivns1abp	T	A	1: 151,238,953 (GRCm39)	M589K	possibly damaging	Het
Jakmip3	C	T	7: 138,621,951 (GRCm39)	R284W	probably damaging	Het
Kank3	T	C	17: 34,041,044 (GRCm39)	L512P	probably damaging	Het
Kcnn2	T	A	18: 45,818,352 (GRCm39)	I483N	possibly damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lbr	A	T	1: 181,647,453 (GRCm39)	Y199*	probably null	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Ltbp1	T	A	17: 75,373,152 (GRCm39)	L265H	probably damaging	Het
Maml3	A	T	3: 51,598,196 (GRCm39)	N183K	possibly damaging	Het
Mprip	T	C	11: 59,650,721 (GRCm39)	V1475A	possibly damaging	Het
Myh4	C	A	11: 67,147,189 (GRCm39)	S1611R	probably benign	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nudt12	T	C	17: 59,303,499 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,840,879 (GRCm39)	T910A	possibly damaging	Het
Or1e31	T	A	11: 73,690,473 (GRCm39)	T37S	possibly damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pbx2	T	A	17: 34,813,673 (GRCm39)	C224*	probably null	Het
Pcdha6	A	G	18: 37,100,960 (GRCm39)	D51G	probably damaging	Het
Pnpla1	C	T	17: 29,104,558 (GRCm39)	T538I	possibly damaging	Het
Pnpla2	T	C	7: 141,039,204 (GRCm39)		probably null	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ranbp2	T	A	10: 58,297,717 (GRCm39)	S375T	probably benign	Het
Rimbp2	T	C	5: 128,880,985 (GRCm39)	Y134C	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Sh3tc1	G	T	5: 35,857,633 (GRCm39)	A1185D	probably damaging	Het
Sin3b	G	A	8: 73,471,184 (GRCm39)	S377N	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,139,479 (GRCm39)	N614I	probably damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Thap4	T	C	1: 93,677,598 (GRCm39)	Y396C	probably damaging	Het
Tle2	T	C	10: 81,420,531 (GRCm39)	L348P	probably damaging	Het
Tmem104	T	C	11: 115,134,312 (GRCm39)	S283P	probably damaging	Het
Tnn	T	C	1: 159,953,949 (GRCm39)	E602G	possibly damaging	Het
Tpm4	A	G	8: 72,900,938 (GRCm39)	K190R	probably benign	Het
Ttf2	T	C	3: 100,870,485 (GRCm39)	E196G	probably benign	Het
Ugt3a1	T	C	15: 9,365,373 (GRCm39)	W329R	probably damaging	Het
Unc13a	G	A	8: 72,094,121 (GRCm39)	Q1327*	probably null	Het
Vmn1r194	C	T	13: 22,429,058 (GRCm39)	T225I	probably benign	Het
Vmn1r215	T	C	13: 23,260,721 (GRCm39)	S254P	probably damaging	Het
Vmn2r109	T	C	17: 20,775,451 (GRCm39)	E92G	probably damaging	Het
Ythdc2	A	G	18: 44,987,809 (GRCm39)	M625V	probably benign	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zfp768	T	C	7: 126,942,875 (GRCm39)	R418G	probably damaging	Het
Zmynd11	C	T	13: 9,739,479 (GRCm39)		probably benign	Het

Other mutations in Gsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Gsn	APN	2	35,174,049 (GRCm39)	missense	probably damaging	1.00
IGL02119:Gsn	APN	2	35,192,507 (GRCm39)	missense	probably damaging	1.00
IGL02512:Gsn	APN	2	35,173,962 (GRCm39)	nonsense	probably null
IGL02550:Gsn	APN	2	35,172,619 (GRCm39)	intron	probably benign
IGL02975:Gsn	APN	2	35,194,666 (GRCm39)	missense	probably benign	0.25
IGL03061:Gsn	APN	2	35,172,471 (GRCm39)	intron	probably benign
R0321:Gsn	UTSW	2	35,180,408 (GRCm39)	missense	probably benign	0.03
R0454:Gsn	UTSW	2	35,194,651 (GRCm39)	missense	probably damaging	1.00
R1446:Gsn	UTSW	2	35,196,598 (GRCm39)	missense	probably benign	0.04
R1760:Gsn	UTSW	2	35,174,835 (GRCm39)	missense	probably damaging	1.00
R1974:Gsn	UTSW	2	35,191,483 (GRCm39)	missense	probably damaging	1.00
R2258:Gsn	UTSW	2	35,180,349 (GRCm39)	missense	probably damaging	1.00
R2260:Gsn	UTSW	2	35,180,349 (GRCm39)	missense	probably damaging	1.00
R2281:Gsn	UTSW	2	35,173,930 (GRCm39)	missense	probably benign	0.01
R2495:Gsn	UTSW	2	35,193,205 (GRCm39)	missense	probably damaging	1.00
R2516:Gsn	UTSW	2	35,173,965 (GRCm39)	missense	probably benign
R3896:Gsn	UTSW	2	35,192,650 (GRCm39)	missense	possibly damaging	0.92
R4003:Gsn	UTSW	2	35,173,995 (GRCm39)	missense	probably benign	0.38
R4006:Gsn	UTSW	2	35,197,633 (GRCm39)	nonsense	probably null
R4281:Gsn	UTSW	2	35,188,883 (GRCm39)	missense	probably damaging	1.00
R4291:Gsn	UTSW	2	35,180,432 (GRCm39)	missense	probably benign	0.14
R4692:Gsn	UTSW	2	35,188,883 (GRCm39)	missense	probably damaging	1.00
R4850:Gsn	UTSW	2	35,173,912 (GRCm39)	splice site	probably null
R4895:Gsn	UTSW	2	35,192,590 (GRCm39)	missense	probably damaging	1.00
R5013:Gsn	UTSW	2	35,188,933 (GRCm39)	missense	probably damaging	1.00
R5290:Gsn	UTSW	2	35,186,484 (GRCm39)	missense	probably benign	0.01
R6472:Gsn	UTSW	2	35,180,463 (GRCm39)	splice site	probably null
R6764:Gsn	UTSW	2	35,174,056 (GRCm39)	missense	probably damaging	1.00
R7018:Gsn	UTSW	2	35,183,518 (GRCm39)	missense	probably benign	0.03
R7036:Gsn	UTSW	2	35,182,611 (GRCm39)	missense	probably damaging	1.00
R7097:Gsn	UTSW	2	35,185,061 (GRCm39)	nonsense	probably null
R7122:Gsn	UTSW	2	35,185,061 (GRCm39)	nonsense	probably null
R7183:Gsn	UTSW	2	35,184,960 (GRCm39)	missense	probably benign	0.00
R7203:Gsn	UTSW	2	35,188,807 (GRCm39)	missense	probably benign	0.00
R7456:Gsn	UTSW	2	35,172,718 (GRCm39)	missense	possibly damaging	0.84
R7488:Gsn	UTSW	2	35,186,433 (GRCm39)	missense	possibly damaging	0.65
R7880:Gsn	UTSW	2	35,173,939 (GRCm39)	missense	probably damaging	1.00
R8088:Gsn	UTSW	2	35,182,659 (GRCm39)	missense	possibly damaging	0.77
R9472:Gsn	UTSW	2	35,182,741 (GRCm39)	missense	probably damaging	1.00
R9479:Gsn	UTSW	2	35,186,227 (GRCm39)	critical splice donor site	probably null
R9568:Gsn	UTSW	2	35,174,003 (GRCm39)	missense	probably benign	0.02
R9777:Gsn	UTSW	2	35,194,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACTGTCCACTATACTGGGG -3'
(R):5'- CCCTAAGTTGGGCATGACAAG -3'

Sequencing Primer
(F):5'- TTGCCCAGGGTGACAGAG -3'
(R):5'- CAAGAAGTTCAGGGTTGTGACTC -3'

Posted On

2016-06-06