Mutagenetix > Incidental Mutation

Incidental Mutation 'R5212:Gas2l1'

403191

Institutional Source

Beutler Lab

Gene Symbol

Gas2l1

Ensembl Gene

ENSMUSG00000034201

Gene Name

growth arrest-specific 2 like 1

Synonyms

TU-71.1, GAR22, 4930500E24Rik, D0Jmb1

MMRRC Submission

042786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5004132-5015327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5011108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 574 (C574S)

Ref Sequence

ENSEMBL: ENSMUSP00000105521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037146] [ENSMUST00000037218] [ENSMUST00000056649] [ENSMUST00000109895] [ENSMUST00000152257]

AlphaFold

Q8JZP9

Predicted Effect

probably benign
Transcript: ENSMUST00000037146

SMART Domains

Protein: ENSMUSP00000043709
Gene: ENSMUSG00000034201

Domain	Start	End	E-Value	Type
CH	29	143	2.69e-16	SMART
GAS2	206	278	7.69e-52	SMART
low complexity region	292	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037218

SMART Domains

Protein: ENSMUSP00000048453
Gene: ENSMUSG00000034209

Domain	Start	End	E-Value	Type
Pfam:Ras	6	180	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056649
AA Change: C574S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050275
Gene: ENSMUSG00000034201
AA Change: C574S

Domain	Start	End	E-Value	Type
CH	29	143	2.69e-16	SMART
GAS2	206	278	7.69e-52	SMART
low complexity region	292	318	N/A	INTRINSIC
low complexity region	335	365	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	460	473	N/A	INTRINSIC
low complexity region	478	496	N/A	INTRINSIC
low complexity region	509	539	N/A	INTRINSIC
low complexity region	546	568	N/A	INTRINSIC
low complexity region	641	657	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109895
AA Change: C574S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105521
Gene: ENSMUSG00000034201
AA Change: C574S

Domain	Start	End	E-Value	Type
CH	29	143	2.69e-16	SMART
GAS2	206	278	7.69e-52	SMART
low complexity region	292	318	N/A	INTRINSIC
low complexity region	335	365	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	460	473	N/A	INTRINSIC
low complexity region	478	496	N/A	INTRINSIC
low complexity region	509	539	N/A	INTRINSIC
low complexity region	546	568	N/A	INTRINSIC
low complexity region	641	657	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156196

Predicted Effect

probably benign
Transcript: ENSMUST00000152257

SMART Domains

Protein: ENSMUSP00000121993
Gene: ENSMUSG00000034201

Domain	Start	End	E-Value	Type
CH	29	143	2.69e-16	SMART

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: This gene encodes a member of the Gas2 family, actin-associated proteins expressed at high levels in growth-arrested cells. The gene expression is negatively regulated by serum and growth factors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,771,611 (GRCm39)	S267T	possibly damaging	Het
Abca9	T	C	11: 109,998,052 (GRCm39)	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,584,980 (GRCm39)	D896V	probably damaging	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,733,843 (GRCm39)	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,778,388 (GRCm39)	E46G	probably benign	Het
Atg2b	A	G	12: 105,613,055 (GRCm39)	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,417,886 (GRCm39)	K217N	probably damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,328,919 (GRCm39)	A845V	probably damaging	Het
Cd63	A	G	10: 128,747,722 (GRCm39)	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,723,072 (GRCm39)		probably null	Het
Clip1	T	A	5: 123,768,744 (GRCm39)	R618S	probably benign	Het
Crybg1	A	T	10: 43,843,739 (GRCm39)	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,390,923 (GRCm39)	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,374,240 (GRCm39)	E180G	probably damaging	Het
F13b	A	T	1: 139,440,725 (GRCm39)	I394F	probably benign	Het
Fnta	A	G	8: 26,499,735 (GRCm39)	I155T	probably benign	Het
Fshr	T	A	17: 89,293,685 (GRCm39)	E331V	probably benign	Het
Fshr	T	A	17: 89,293,684 (GRCm39)	E331D	probably benign	Het
Ggnbp2	T	A	11: 84,744,847 (GRCm39)		probably benign	Het
Gm3371	A	C	14: 44,641,111 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,016 (GRCm39)		probably benign	Het
Hand1	A	C	11: 57,722,273 (GRCm39)	F114V	probably damaging	Het
Itga4	A	C	2: 79,110,939 (GRCm39)	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,262,245 (GRCm39)	H183L	probably benign	Het
Kifbp	A	T	10: 62,398,908 (GRCm39)		probably benign	Het
Krt8	G	T	15: 101,906,402 (GRCm39)	A369D	possibly damaging	Het
Krt82	T	C	15: 101,453,484 (GRCm39)	S301G	probably damaging	Het
Lig3	A	G	11: 82,678,504 (GRCm39)	T248A	probably benign	Het
Madcam1	C	G	10: 79,504,179 (GRCm39)	T255S	probably benign	Het
Med20	T	C	17: 47,929,775 (GRCm39)	Y71H	probably benign	Het
Mtss2	A	G	8: 111,455,850 (GRCm39)	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547 (GRCm39)	F328S	possibly damaging	Het
Ncbp3	A	G	11: 72,944,373 (GRCm39)		probably benign	Het
Nek8	T	C	11: 78,063,342 (GRCm39)	M1V	probably null	Het
Nufip1	A	T	14: 76,370,538 (GRCm39)	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,178,793 (GRCm39)		probably benign	Het
Plppr3	C	T	10: 79,698,279 (GRCm39)	G419R	probably benign	Het
Rfx1	G	T	8: 84,793,221 (GRCm39)		probably benign	Het
Rnpepl1	C	T	1: 92,839,045 (GRCm39)	A68V	probably benign	Het
Rsbn1l	A	T	5: 21,101,212 (GRCm39)	M776K	probably benign	Het
Setd7	A	T	3: 51,450,238 (GRCm39)	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snap47	T	C	11: 59,319,178 (GRCm39)	E320G	probably damaging	Het
Spaca6	C	A	17: 18,058,656 (GRCm39)	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,743,651 (GRCm39)	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,377,492 (GRCm39)	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,330,460 (GRCm39)	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,876,161 (GRCm39)	Q27L	probably benign	Het
Ttn	C	T	2: 76,731,957 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,619,945 (GRCm39)	I15908V	probably benign	Het
Ttn	T	A	2: 76,628,019 (GRCm39)	D12931V	probably damaging	Het
Ush2a	T	A	1: 188,176,902 (GRCm39)		probably null	Het
Wls	A	G	3: 159,578,645 (GRCm39)	N69S	probably benign	Het

Other mutations in Gas2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0060:Gas2l1	UTSW	11	5,012,319 (GRCm39)	unclassified	probably benign
R1606:Gas2l1	UTSW	11	5,014,434 (GRCm39)	missense	probably damaging	1.00
R1719:Gas2l1	UTSW	11	5,014,266 (GRCm39)	missense	probably damaging	1.00
R1934:Gas2l1	UTSW	11	5,011,408 (GRCm39)	missense	probably benign	0.00
R4426:Gas2l1	UTSW	11	5,013,908 (GRCm39)	missense	probably benign
R4427:Gas2l1	UTSW	11	5,013,908 (GRCm39)	missense	probably benign
R4705:Gas2l1	UTSW	11	5,010,867 (GRCm39)	missense	possibly damaging	0.71
R4811:Gas2l1	UTSW	11	5,014,436 (GRCm39)	missense	probably damaging	1.00
R4817:Gas2l1	UTSW	11	5,011,429 (GRCm39)	missense	possibly damaging	0.73
R4847:Gas2l1	UTSW	11	5,014,173 (GRCm39)	missense	probably damaging	1.00
R6753:Gas2l1	UTSW	11	5,014,254 (GRCm39)	missense	probably damaging	0.98
R7134:Gas2l1	UTSW	11	5,011,106 (GRCm39)	nonsense	probably null
R7293:Gas2l1	UTSW	11	5,014,338 (GRCm39)	missense	probably damaging	1.00
R8005:Gas2l1	UTSW	11	5,011,552 (GRCm39)	missense	probably benign	0.24
R8061:Gas2l1	UTSW	11	5,011,785 (GRCm39)	missense	possibly damaging	0.84
R9062:Gas2l1	UTSW	11	5,011,497 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CATCGAAGAATCTGGCTCGG -3'
(R):5'- AACAGGCGGTACTGATGGTG -3'

Sequencing Primer
(F):5'- ATGCCAAGCCCCGAGTTCTATG -3'
(R):5'- TGCAGCTTGACCCACAG -3'

Posted On

2016-07-22