Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Gas7'

620249

Institutional Source

Beutler Lab

Gene Symbol

Gas7

Ensembl Gene

ENSMUSG00000033066

Gene Name

growth arrest specific 7

Synonyms

Gas7-cb, B230343A10Rik

MMRRC Submission

067505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67345917-67575800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67574260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 412 (V412M)

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

probably damaging
Transcript: ENSMUST00000041611
AA Change: V408M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: V408M

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: ENSMUST00000108680
AA Change: V408M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: V408M

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: ENSMUST00000108681
AA Change: V408M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: V408M

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: V412M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: V412M

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	probably benign	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
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'- CTTCTAGAAAGGGTGATCTGAGGTG -3'
(R):5'- ATGGCCTGGAAATACTGGGG -3'

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

Posted On

2020-01-23