Mutagenetix > Incidental Mutation

Incidental Mutation 'R2258:Gsn'

243507

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

040258-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R2258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35146392-35197904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35180349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 130 (G130E)

Ref Sequence

ENSEMBL: ENSMUSP00000144296 (fasta)

Gene Model

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

AlphaFold

P13020

Predicted Effect

probably damaging
Transcript: ENSMUST00000028239
AA Change: G168E

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

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: G168E

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: ENSMUST00000139867
AA Change: G130E

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

SMART Domains

Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879
AA Change: G130E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142324
AA Change: G119E

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

SMART Domains

Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: G119E

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: G119E

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

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: G119E

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: G119E

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

SMART Domains

Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: G119E

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: G130E

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

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: G130E

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,267 (GRCm39)	N308S	possibly damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Ang4	A	G	14: 52,001,955 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,556,966 (GRCm39)	S315P	probably benign	Het
Arhgap15	G	A	2: 44,276,359 (GRCm39)	G437R	probably damaging	Het
Cacna2d1	T	C	5: 16,562,287 (GRCm39)	C810R	probably damaging	Het
Capn5	A	G	7: 97,785,082 (GRCm39)	W131R	probably damaging	Het
Ccnj	A	G	19: 40,834,277 (GRCm39)	Q292R	probably benign	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdk5r2	T	C	1: 74,895,059 (GRCm39)	L268P	probably damaging	Het
Cfap251	C	G	5: 123,421,411 (GRCm39)		probably null	Het
Clrn2	A	G	5: 45,611,304 (GRCm39)	D51G	probably benign	Het
Cntd1	T	C	11: 101,175,682 (GRCm39)	S174P	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Col17a1	C	T	19: 47,669,816 (GRCm39)		probably null	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2c37	A	G	19: 39,984,303 (GRCm39)	I264V	possibly damaging	Het
Cyp2j12	A	G	4: 96,021,315 (GRCm39)	I97T	probably damaging	Het
Dipk1b	T	C	2: 26,525,162 (GRCm39)	L157P	probably damaging	Het
Eif3b	T	C	5: 140,413,258 (GRCm39)	F354L	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,559 (GRCm39)	M7L	probably benign	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
F5	T	A	1: 164,019,750 (GRCm39)	S742T	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fndc3b	G	T	3: 27,494,309 (GRCm39)	Q939K	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpbar1	T	C	1: 74,318,164 (GRCm39)	F136L	probably benign	Het
Hecw1	A	T	13: 14,490,723 (GRCm39)	D756E	probably benign	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Inpp4a	T	A	1: 37,416,777 (GRCm39)	S433T	probably damaging	Het
Ism2	C	A	12: 87,326,848 (GRCm39)	V320L	possibly damaging	Het
Krt8	G	T	15: 101,907,257 (GRCm39)	D275E	probably benign	Het
Lgalsl2	A	G	7: 5,362,401 (GRCm39)	M11V	probably benign	Het
Lyg2	A	C	1: 37,948,077 (GRCm39)	N132K	probably benign	Het
Lyst	G	A	13: 13,812,243 (GRCm39)	R885Q	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mcc	C	A	18: 44,608,203 (GRCm39)	G355W	probably damaging	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Mrgpra3	A	T	7: 47,239,842 (GRCm39)	M28K	probably benign	Het
Ms4a15	A	G	19: 10,962,159 (GRCm39)	C47R	probably benign	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo18b	C	T	5: 113,022,529 (GRCm39)		probably benign	Het
Nat8f4	A	T	6: 85,878,207 (GRCm39)	H105Q	possibly damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Nrap	T	C	19: 56,310,394 (GRCm39)	R1534G	possibly damaging	Het
Nwd2	C	A	5: 63,962,499 (GRCm39)	N694K	probably benign	Het
Oas1c	G	A	5: 120,941,082 (GRCm39)	A35V	probably null	Het
Or2d3b	A	G	7: 106,514,113 (GRCm39)	K236R	probably damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or5p58	C	T	7: 107,694,402 (GRCm39)	R125H	possibly damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pate8	C	A	9: 36,493,161 (GRCm39)	V54L	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Polr1f	A	G	12: 33,483,587 (GRCm39)	H113R	probably damaging	Het
Prex1	C	T	2: 166,429,077 (GRCm39)	V839I	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Rbm20	T	C	19: 53,840,172 (GRCm39)	S1054P	probably benign	Het
Rhox13	G	C	X: 37,210,221 (GRCm39)	E19Q	unknown	Het
Ryr2	A	G	13: 11,753,102 (GRCm39)	F1740L	possibly damaging	Het
Sox1	C	A	8: 12,446,927 (GRCm39)	N189K	possibly damaging	Het
Spta1	C	A	1: 174,001,907 (GRCm39)	S12R	possibly damaging	Het
Stard13	A	G	5: 150,963,196 (GRCm39)	L971P	probably damaging	Het
Tigd4	T	A	3: 84,501,600 (GRCm39)	N172K	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Vldlr	A	G	19: 27,215,786 (GRCm39)	D220G	probably damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Wdr25	T	A	12: 108,864,100 (GRCm39)	S82T	possibly damaging	Het
Wnk4	C	A	11: 101,165,861 (GRCm39)	P796Q	probably damaging	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zc3h15	G	A	2: 83,487,360 (GRCm39)	V60I	probably benign	Het
Zfp629	G	A	7: 127,210,963 (GRCm39)	T282M	probably damaging	Het
Zscan22	T	G	7: 12,637,887 (GRCm39)	V93G	probably damaging	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
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
R5011:Gsn	UTSW	2	35,188,933 (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'- TAATGTGGAGGGAATCTTAGCC -3'
(R):5'- GCAGGCAAGACTCACGTTTC -3'

Sequencing Primer
(F):5'- GAGGGAATCTTAGCCATGTGG -3'
(R):5'- CGTTTCCCAGGTCCAGAATGAAG -3'

Posted On

2014-10-16