Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Gas7'

384286

Institutional Source

Beutler Lab

Gene Symbol

Gas7

Ensembl Gene

ENSMUSG00000033066

Gene Name

growth arrest specific 7

Synonyms

Gas7-cb, B230343A10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67345917-67575800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67574234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 403 (E403G)

Ref Sequence

ENSEMBL: ENSMUSP00000104322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000041611] [ENSMUST00000108680] [ENSMUST00000108681] [ENSMUST00000108682]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021289

SMART Domains

Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928

Domain	Start	End	E-Value	Type
Pfam:7tm_2	17	225	4.8e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041611
AA Change: E399G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: E399G

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108680
AA Change: E399G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: E399G

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108681
AA Change: E399G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: E399G

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108682
AA Change: E403G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: E403G

Domain	Start	End	E-Value	Type
WW	18	50	1.39e-11	SMART
FCH	150	236	6.62e-25	SMART
coiled coil region	264	308	N/A	INTRINSIC
low complexity region	339	358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140863

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Gas7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Gas7	APN	11	67,543,740 (GRCm39)	critical splice donor site	probably null
IGL01634:Gas7	APN	11	67,565,057 (GRCm39)	splice site	probably benign
IGL02215:Gas7	APN	11	67,534,158 (GRCm39)	missense	probably benign	0.33
IGL02338:Gas7	APN	11	67,573,557 (GRCm39)	missense	probably damaging	0.99
IGL02547:Gas7	APN	11	67,556,261 (GRCm39)	missense	probably damaging	0.99
IGL02679:Gas7	APN	11	67,566,553 (GRCm39)	splice site	probably null
IGL02959:Gas7	APN	11	67,565,061 (GRCm39)	splice site	probably benign
BB007:Gas7	UTSW	11	67,556,217 (GRCm39)	missense	probably damaging	1.00
BB017:Gas7	UTSW	11	67,556,217 (GRCm39)	missense	probably damaging	1.00
R0029:Gas7	UTSW	11	67,534,163 (GRCm39)	missense	probably benign	0.05
R0335:Gas7	UTSW	11	67,552,878 (GRCm39)	missense	possibly damaging	0.84
R0931:Gas7	UTSW	11	67,543,751 (GRCm39)	splice site	probably benign
R1165:Gas7	UTSW	11	67,561,512 (GRCm39)	splice site	probably benign
R1459:Gas7	UTSW	11	67,552,902 (GRCm39)	missense	probably damaging	1.00
R2425:Gas7	UTSW	11	67,534,121 (GRCm39)	missense	probably benign	0.00
R4953:Gas7	UTSW	11	67,550,876 (GRCm39)	missense	possibly damaging	0.69
R5327:Gas7	UTSW	11	67,552,916 (GRCm39)	missense	probably damaging	1.00
R6145:Gas7	UTSW	11	67,520,438 (GRCm39)	missense	probably damaging	1.00
R6631:Gas7	UTSW	11	67,565,107 (GRCm39)	missense	probably damaging	1.00
R6885:Gas7	UTSW	11	67,574,213 (GRCm39)	missense	probably damaging	0.99
R6914:Gas7	UTSW	11	67,550,977 (GRCm39)	splice site	probably null
R6942:Gas7	UTSW	11	67,550,977 (GRCm39)	splice site	probably null
R7930:Gas7	UTSW	11	67,556,217 (GRCm39)	missense	probably damaging	1.00
R8070:Gas7	UTSW	11	67,574,260 (GRCm39)	missense	probably damaging	1.00
R8358:Gas7	UTSW	11	67,543,734 (GRCm39)	missense	probably benign	0.03
R9166:Gas7	UTSW	11	67,561,446 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- CTTCTAGAAAGGGTGATCTGAGG -3'
(R):5'- ATGGCCTGGAAATACTGGGG -3'

Sequencing Primer
(F):5'- GTGGCTCTCCAACTGCAG -3'
(R):5'- CCTGGAAATACTGGGGAGTCC -3'

Posted On

2016-04-27