Mutagenetix > Incidental Mutation

Incidental Mutation 'R7097:Gsn'

550537

Institutional Source

Beutler Lab

Gene Symbol

Gsn

Ensembl Gene

ENSMUSG00000026879

Gene Name

gelsolin

Synonyms

MMRRC Submission

045189-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35146392-35197904 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 35185061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 339 (K339*)

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 null
Transcript: ENSMUST00000028239
AA Change: K339*

SMART Domains

Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: K339*

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 benign
Transcript: ENSMUST00000142324

SMART Domains

Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879

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

Predicted Effect

probably null
Transcript: ENSMUST00000201185
AA Change: K290*

SMART Domains

Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: K290*

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

SMART Domains

Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879

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

Predicted Effect

probably null
Transcript: ENSMUST00000202990
AA Change: K301*

SMART Domains

Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: K301*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,052 (GRCm39)	N435S	probably damaging	Het
Aip	A	T	19: 4,165,381 (GRCm39)	V195E	probably benign	Het
Amer3	A	T	1: 34,627,869 (GRCm39)	I703F	probably benign	Het
Amfr	T	C	8: 94,738,637 (GRCm39)	E7G	probably benign	Het
Angel1	A	G	12: 86,773,158 (GRCm39)	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,341,850 (GRCm39)	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Bahcc1	T	C	11: 120,163,472 (GRCm39)	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,791,364 (GRCm39)	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Btaf1	C	T	19: 36,926,502 (GRCm39)	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,175,183 (GRCm39)		probably null	Het
Cdca4	C	A	12: 112,785,189 (GRCm39)	V180L	probably benign	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Clec4g	T	A	8: 3,769,518 (GRCm39)	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,337,489 (GRCm39)	I238S	probably damaging	Het
Cyb5rl	A	T	4: 106,944,513 (GRCm39)	E41V	unknown	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Dnaaf1	G	T	8: 120,323,538 (GRCm39)	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,410 (GRCm39)	I4394V	probably benign	Het
Dot1l	T	G	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Dst	T	G	1: 34,208,341 (GRCm39)	I1089S	probably damaging	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Eps8l3	A	G	3: 107,791,801 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,493,917 (GRCm39)	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,388,313 (GRCm39)	E806G	probably benign	Het
Fryl	T	A	5: 73,231,251 (GRCm39)	I1609F	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Hecw2	T	A	1: 53,904,283 (GRCm39)	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,951,892 (GRCm39)	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,467,650 (GRCm39)	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Med16	C	T	10: 79,739,177 (GRCm39)	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,239,389 (GRCm39)	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo18b	A	G	5: 113,022,271 (GRCm39)	S374P	unknown	Het
Myoz1	A	G	14: 20,699,477 (GRCm39)	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,279,983 (GRCm39)	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,315,230 (GRCm39)	T212A	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	T	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or1x2	C	A	11: 50,918,428 (GRCm39)	L200I	probably benign	Het
Or8c13	A	T	9: 38,091,632 (GRCm39)	C162*	probably null	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pear1	T	G	3: 87,658,752 (GRCm39)	H901P	probably benign	Het
Peds1	C	G	2: 167,503,398 (GRCm39)	A7P	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,335,424 (GRCm39)	E362D	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prdm16	G	T	4: 154,429,925 (GRCm39)	T348K	probably damaging	Het
Prkdc	T	A	16: 15,507,207 (GRCm39)	F896I	probably damaging	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,595,595 (GRCm39)	W739*	probably null	Het
Rfx5	G	T	3: 94,863,850 (GRCm39)	G135C	probably damaging	Het
Scmh1	A	G	4: 120,382,252 (GRCm39)	H573R	probably benign	Het
Serpina5	G	T	12: 104,068,554 (GRCm39)		probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,400,464 (GRCm39)	G222R	probably damaging	Het
Sp110	C	T	1: 85,507,406 (GRCm39)	G367D	possibly damaging	Het
Srcap	C	A	7: 127,138,213 (GRCm39)	L1128M	probably damaging	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,692,049 (GRCm39)	Y52F	probably benign	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Trub2	A	G	2: 29,669,838 (GRCm39)	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,256,314 (GRCm39)	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,027,226 (GRCm39)	Q731L	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
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'- ATGGATGTTGATCTGCGCCC -3'
(R):5'- CTGATCTTGTCACACAATTGGC -3'

Sequencing Primer
(F):5'- TGATCTGCGCCCCTGCC -3'
(R):5'- TTGGCAAACACTCATTTGAGCC -3'

Posted On

2019-05-15