Mutagenetix > Incidental Mutation

Incidental Mutation 'BB017:Gas7'

642967

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 #

BB017

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

67345917-67575800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67556217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 185 (I185M)

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: I181M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: I181M

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: I181M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: I181M

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: I181M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: I181M

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: I185M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: I185M

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: 99.7%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
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
R9166:Gas7	UTSW	11	67,561,446 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- TTCCTGGAAGACTCTCACGC -3'
(R):5'- TGGATGACTAACAGGCACAGAC -3'

Sequencing Primer
(F):5'- CCCAACCTTGTGCTAGAGGTG -3'
(R):5'- CTCTCCATCCCAAGAAAGCATCTTTG -3'

Posted On

2020-08-01