Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Gas7'

488826

Institutional Source

Beutler Lab

Gene Symbol

Gas7

Ensembl Gene

ENSMUSG00000033066

Gene Name

growth arrest specific 7

Synonyms

B230343A10Rik, Gas7-cb

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67455437-67688990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67629612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 43 (T43P)

Ref Sequence

ENSEMBL: ENSMUSP00000104322 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041611
AA Change: T39P

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

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: T39P

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: T39P

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

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: T39P

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: T39P

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

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: T39P

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: T43P

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

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: T43P

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: ENSMUST00000136796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151784

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942 (GRCm38)		probably null	Het
4930402H24Rik	T	C	2: 130,778,473 (GRCm38)	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808 (GRCm38)	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033 (GRCm38)	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065 (GRCm38)	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661 (GRCm38)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904 (GRCm38)	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663 (GRCm38)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238 (GRCm38)	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999 (GRCm38)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261 (GRCm38)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858 (GRCm38)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm38)	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065 (GRCm38)	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573 (GRCm38)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978 (GRCm38)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816 (GRCm38)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766 (GRCm38)	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970 (GRCm38)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417 (GRCm38)	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904 (GRCm38)	G602*	probably null	Het
Ep400	A	T	5: 110,756,703 (GRCm38)	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429 (GRCm38)	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899 (GRCm38)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623 (GRCm38)	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768 (GRCm38)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842 (GRCm38)	Q272L	possibly damaging	Het
Gm5134	A	T	10: 75,995,839 (GRCm38)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379 (GRCm38)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765 (GRCm38)	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601 (GRCm38)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136 (GRCm38)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959 (GRCm38)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656 (GRCm38)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246 (GRCm38)	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096 (GRCm38)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607 (GRCm38)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026 (GRCm38)	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243 (GRCm38)	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381 (GRCm38)	S525N	unknown	Het
Nasp	G	A	4: 116,611,077 (GRCm38)	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561 (GRCm38)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717 (GRCm38)	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206 (GRCm38)	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569 (GRCm38)	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888 (GRCm38)	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117 (GRCm38)		silent	Het
Pde10a	T	C	17: 8,929,117 (GRCm38)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791 (GRCm38)	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044 (GRCm38)	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992 (GRCm38)	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935 (GRCm38)	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302 (GRCm38)	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433 (GRCm38)		probably benign	Het
Ppm1j	G	A	3: 104,781,379 (GRCm38)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073 (GRCm38)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649 (GRCm38)	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467 (GRCm38)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637 (GRCm38)		probably null	Het
Rapgef1	A	G	2: 29,736,666 (GRCm38)	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853 (GRCm38)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484 (GRCm38)	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246 (GRCm38)		probably null	Het
Slc15a3	C	T	19: 10,857,251 (GRCm38)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781 (GRCm38)	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575 (GRCm38)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294 (GRCm38)		probably benign	Het
Syne1	T	C	10: 5,052,750 (GRCm38)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563 (GRCm38)		probably null	Het
Tbc1d24	C	A	17: 24,208,229 (GRCm38)	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215 (GRCm38)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm38)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632 (GRCm38)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213 (GRCm38)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851 (GRCm38)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943 (GRCm38)	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574 (GRCm38)	K156R	probably damaging	Het

Other mutations in Gas7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Gas7	APN	11	67,652,914 (GRCm38)	critical splice donor site	probably null
IGL01634:Gas7	APN	11	67,674,231 (GRCm38)	splice site	probably benign
IGL02215:Gas7	APN	11	67,643,332 (GRCm38)	missense	probably benign	0.33
IGL02338:Gas7	APN	11	67,682,731 (GRCm38)	missense	probably damaging	0.99
IGL02547:Gas7	APN	11	67,665,435 (GRCm38)	missense	probably damaging	0.99
IGL02679:Gas7	APN	11	67,675,727 (GRCm38)	splice site	probably null
IGL02959:Gas7	APN	11	67,674,235 (GRCm38)	splice site	probably benign
BB007:Gas7	UTSW	11	67,665,391 (GRCm38)	missense	probably damaging	1.00
BB017:Gas7	UTSW	11	67,665,391 (GRCm38)	missense	probably damaging	1.00
R0029:Gas7	UTSW	11	67,643,337 (GRCm38)	missense	probably benign	0.05
R0335:Gas7	UTSW	11	67,662,052 (GRCm38)	missense	possibly damaging	0.84
R0931:Gas7	UTSW	11	67,652,925 (GRCm38)	splice site	probably benign
R1165:Gas7	UTSW	11	67,670,686 (GRCm38)	splice site	probably benign
R1459:Gas7	UTSW	11	67,662,076 (GRCm38)	missense	probably damaging	1.00
R2425:Gas7	UTSW	11	67,643,295 (GRCm38)	missense	probably benign	0.00
R4953:Gas7	UTSW	11	67,660,050 (GRCm38)	missense	possibly damaging	0.69
R4969:Gas7	UTSW	11	67,683,408 (GRCm38)	missense	probably damaging	0.98
R5327:Gas7	UTSW	11	67,662,090 (GRCm38)	missense	probably damaging	1.00
R6631:Gas7	UTSW	11	67,674,281 (GRCm38)	missense	probably damaging	1.00
R6885:Gas7	UTSW	11	67,683,387 (GRCm38)	missense	probably damaging	0.99
R6914:Gas7	UTSW	11	67,660,151 (GRCm38)	splice site	probably null
R6942:Gas7	UTSW	11	67,660,151 (GRCm38)	splice site	probably null
R7930:Gas7	UTSW	11	67,665,391 (GRCm38)	missense	probably damaging	1.00
R8070:Gas7	UTSW	11	67,683,434 (GRCm38)	missense	probably damaging	1.00
R8358:Gas7	UTSW	11	67,652,908 (GRCm38)	missense	probably benign	0.03
R9166:Gas7	UTSW	11	67,670,620 (GRCm38)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AAGGGCCTTGGTTAAGAGATGC -3'
(R):5'- ATACCATAGCAGCTTTCAGGC -3'

Sequencing Primer
(F):5'- CTTGGTTAAGAGATGCTCTGCCAAG -3'
(R):5'- ATAGCAGCTTTCAGGCCCCAG -3'

Posted On

2017-10-10