Mutagenetix > Incidental Mutation

Incidental Mutation 'R8175:Gas1'

634308

Institutional Source

Beutler Lab

Gene Symbol

Gas1

Ensembl Gene

ENSMUSG00000052957

Gene Name

growth arrest specific 1

Synonyms

Gas-1

MMRRC Submission

067600-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R8175 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

60322219-60325179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60323932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 275 (N275S)

Ref Sequence

ENSEMBL: ENSMUSP00000064555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065086]

AlphaFold

Q01721

Predicted Effect

SMART Domains

Protein: ENSMUSP00000064555
Gene: ENSMUSG00000052957
AA Change: N275S

Domain	Start	End	E-Value	Type
low complexity region	35	71	N/A	INTRINSIC
GDNF	88	184	1.27e-12	SMART
low complexity region	189	202	N/A	INTRINSIC
GDNF	203	280	5.34e-6	SMART
low complexity region	290	309	N/A	INTRINSIC
low complexity region	320	359	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene experience background sensitive reduction of viability. Developmental defects are found in the eyes, cerebellum and limbs. [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
Adamts15	C	T	9: 30,815,952 (GRCm39)	V635M	probably damaging	Het
Aim2	A	T	1: 173,282,920 (GRCm39)	M1L	possibly damaging	Het
Ank3	T	C	10: 69,729,339 (GRCm39)	V700A	unknown	Het
Arhgap10	T	C	8: 78,037,471 (GRCm39)	T586A	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	G	A	1: 34,849,455 (GRCm39)	V349I	probably benign	Het
Atp1a1	A	G	3: 101,492,170 (GRCm39)	F569L	possibly damaging	Het
Btbd10	T	A	7: 112,921,999 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,665,381 (GRCm39)	D270N	probably benign	Het
Cobll1	T	C	2: 64,929,575 (GRCm39)	N584D	probably benign	Het
Coro1c	T	A	5: 113,988,876 (GRCm39)	I156F	probably benign	Het
Cpsf3	T	C	12: 21,350,178 (GRCm39)	I299T	probably benign	Het
Cse1l	T	A	2: 166,785,128 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,772,814 (GRCm39)	E527G	probably damaging	Het
Dcbld2	T	C	16: 58,253,710 (GRCm39)	L149S	possibly damaging	Het
Ecpas	C	T	4: 58,872,756 (GRCm39)	V182M	probably damaging	Het
Egflam	C	A	15: 7,241,633 (GRCm39)	W925L	probably damaging	Het
Ehmt2	A	G	17: 35,130,396 (GRCm39)	N1071D	probably damaging	Het
Eif3g	A	T	9: 20,809,026 (GRCm39)	S93T	probably damaging	Het
Eipr1	A	G	12: 28,913,106 (GRCm39)	E269G		Het
Eng	C	A	2: 32,568,934 (GRCm39)	T487K	possibly damaging	Het
Epb41l3	T	C	17: 69,517,361 (GRCm39)	Y130H	probably damaging	Het
F5	A	T	1: 164,019,834 (GRCm39)	R770*	probably null	Het
Fam227a	A	G	15: 79,524,861 (GRCm39)	F201S	probably damaging	Het
Fam50b	G	A	13: 34,930,847 (GRCm39)	E108K	probably benign	Het
Fcgbpl1	T	A	7: 27,863,873 (GRCm39)	C2548*	probably null	Het
Fn1	A	G	1: 71,638,824 (GRCm39)	I1971T	probably damaging	Het
Fsip2	T	A	2: 82,815,088 (GRCm39)	F3607Y	probably benign	Het
Fsip2	A	T	2: 82,818,021 (GRCm39)	I4585L	probably benign	Het
Hus1b	A	G	13: 31,131,215 (GRCm39)	V148A	probably benign	Het
Ighmbp2	A	G	19: 3,316,365 (GRCm39)	L575P	possibly damaging	Het
Igsf21	A	T	4: 139,755,542 (GRCm39)	F371Y	probably damaging	Het
Itprid2	A	G	2: 79,488,496 (GRCm39)	R860G	probably damaging	Het
Jade1	G	T	3: 41,567,723 (GRCm39)	R597L	probably benign	Het
Krt4	A	G	15: 101,828,984 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,666,833 (GRCm39)	S412P	probably benign	Het
Lifr	A	G	15: 7,216,496 (GRCm39)	T824A	probably damaging	Het
Megf6	T	A	4: 154,353,076 (GRCm39)	C1307*	probably null	Het
Ndufb10	A	T	17: 24,943,166 (GRCm39)	V48E	possibly damaging	Het
Nelfa	T	C	5: 34,079,357 (GRCm39)	K72R	possibly damaging	Het
Obscn	C	T	11: 58,886,786 (GRCm39)	V7767I	unknown	Het
Pptc7	T	A	5: 122,457,882 (GRCm39)	C284S	probably benign	Het
Pxdc1	A	G	13: 34,812,798 (GRCm39)	S218P	probably damaging	Het
Rabep1	T	A	11: 70,775,755 (GRCm39)	W110R	probably damaging	Het
Ren1	T	C	1: 133,282,007 (GRCm39)	Y79H	possibly damaging	Het
Ripor3	T	C	2: 167,825,679 (GRCm39)	S760G	probably benign	Het
Setd1a	A	G	7: 127,395,415 (GRCm39)	E1327G	unknown	Het
Setd5	T	C	6: 113,091,874 (GRCm39)	W232R	probably damaging	Het
Slf1	A	T	13: 77,260,790 (GRCm39)	H171Q	probably damaging	Het
Smoc1	A	G	12: 81,214,440 (GRCm39)	D285G	probably damaging	Het
Taf10	T	C	7: 105,393,134 (GRCm39)	Y97C	probably damaging	Het
Tgfbr2	G	A	9: 115,939,023 (GRCm39)	S293L	possibly damaging	Het
Tmem181a	A	G	17: 6,346,075 (GRCm39)	I190V	probably benign	Het
Traf6	C	T	2: 101,521,825 (GRCm39)	T220I	possibly damaging	Het
Ube4b	T	C	4: 149,435,973 (GRCm39)	N716D	probably benign	Het
Unc5d	T	A	8: 29,334,855 (GRCm39)	K157N	probably damaging	Het
Usp19	G	A	9: 108,377,377 (GRCm39)	R1255H	probably damaging	Het
Vmn2r12	T	A	5: 109,238,349 (GRCm39)	I464F	probably damaging	Het
Zbtb20	A	T	16: 43,397,443 (GRCm39)		probably benign	Het
Zfp790	T	G	7: 29,529,205 (GRCm39)	L630R	possibly damaging	Het

Other mutations in Gas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2420:Gas1	UTSW	13	60,324,744 (GRCm39)	utr 5 prime	probably benign
R4011:Gas1	UTSW	13	60,323,791 (GRCm39)	missense	unknown
R6187:Gas1	UTSW	13	60,324,186 (GRCm39)	missense	possibly damaging	0.93
R6302:Gas1	UTSW	13	60,323,970 (GRCm39)	missense	probably damaging	0.99
R7027:Gas1	UTSW	13	60,324,047 (GRCm39)	missense	probably damaging	0.99
R7830:Gas1	UTSW	13	60,323,848 (GRCm39)	missense	probably damaging	0.96
R9402:Gas1	UTSW	13	60,324,016 (GRCm39)	missense	probably damaging	0.98
R9578:Gas1	UTSW	13	60,323,905 (GRCm39)	missense	possibly damaging	0.95
RF011:Gas1	UTSW	13	60,324,345 (GRCm39)	small insertion	probably benign
RF038:Gas1	UTSW	13	60,324,344 (GRCm39)	small insertion	probably benign
RF038:Gas1	UTSW	13	60,324,342 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGGAGCTACAAGTGTGAC -3'
(R):5'- ACTGCATCTCGGCGCTTATC -3'

Sequencing Primer
(F):5'- CTACAAGTGTGACCCGAGCAG -3'
(R):5'- CAGGACGAACACTGCAGGTC -3'

Posted On

2020-07-13