Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Gas7'

696074

Institutional Source

Beutler Lab

Gene Symbol

Gas7

Ensembl Gene

ENSMUSG00000033066

Gene Name

growth arrest specific 7

Synonyms

Gas7-cb, B230343A10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67345917-67575800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67561446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 218 (V218A)

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: V214A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: V214A

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: V214A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: V214A

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: V214A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: V214A

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 benign
Transcript: ENSMUST00000108682
AA Change: V218A

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: V218A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably 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
R4969:Gas7	UTSW	11	67,574,234 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- CAGTGATGGTCAGGCATCAG -3'
(R):5'- GGGTGTCTACACTTACCACAC -3'

Sequencing Primer
(F):5'- GTCAGGCATCAGTATTTTATGCC -3'
(R):5'- GTGAGCTGCTTGTTAAAACAGCC -3'

Posted On

2022-02-07