Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Gsn'

721733

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R9568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35146392-35197904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35174003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 75 (D75E)

Ref Sequence

ENSEMBL: ENSMUSP00000028239 (fasta)

Gene Model

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

AlphaFold

P13020

PDB Structure

Gelsolin Domains 4-6 in Active, Actin Free Conformation Identifies Sites of Regulatory Calcium Ions [X-RAY DIFFRACTION]
Crystal structure of Plasmodium falciparum actin I [X-RAY DIFFRACTION]
Crystal structure of Plasmodium berghei actin I with D-loop from muscle actin [X-RAY DIFFRACTION]
Crystal structure of Plasmodium berghei actin II [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028239
AA Change: D75E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: D75E

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
AA Change: D37E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879
AA Change: D37E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142324
AA Change: D26E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: D26E

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: D26E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: D26E

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: D26E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: D26E

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: D37E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: D37E

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Alox12b	T	A	11: 69,054,836 (GRCm39)	C280S	possibly damaging	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Manea	C	A	4: 26,340,468 (GRCm39)	D165Y	probably damaging	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or4d5	A	T	9: 40,011,864 (GRCm39)	D307E	probably benign	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rbm14	A	G	19: 4,861,464 (GRCm39)	Y25H	probably damaging	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Tsnaxip1	G	A	8: 106,569,135 (GRCm39)	R495H	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	possibly 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
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
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
R9777:Gsn	UTSW	2	35,194,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTCTCCTCTAGCACAGGG -3'
(R):5'- CCTGGTGTAGAGAGTACTCAGTTC -3'

Sequencing Primer
(F):5'- TCTAGCACAGGGAGAGCTC -3'
(R):5'- GAGAGTACTCAGTTCAGGTATATCC -3'

Posted On

2022-08-09