Mutagenetix > Incidental Mutation

Incidental Mutation 'R4426:Gas2l1'

328186

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

041697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5004132-5015327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5013908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 184 (V184A)

Ref Sequence

ENSEMBL: ENSMUSP00000121993 (fasta)

Gene Model

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

AlphaFold

Q8JZP9

Predicted Effect

probably benign
Transcript: ENSMUST00000037146
AA Change: V184A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043709
Gene: ENSMUSG00000034201
AA Change: V184A

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: V184A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050275
Gene: ENSMUSG00000034201
AA Change: V184A

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: V184A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105521
Gene: ENSMUSG00000034201
AA Change: V184A

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

probably benign
Transcript: ENSMUST00000152257
AA Change: V184A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121993
Gene: ENSMUSG00000034201
AA Change: V184A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156196

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112 (GRCm39)	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,932,171 (GRCm39)	I206S	probably benign	Het
Cacnb2	A	T	2: 14,980,026 (GRCm39)	R290*	probably null	Het
Ccdc137	T	C	11: 120,351,074 (GRCm39)	S159P	probably damaging	Het
Chil5	A	G	3: 105,926,943 (GRCm39)	S231P	probably damaging	Het
Cic	C	T	7: 24,993,433 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,532,581 (GRCm39)	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,718,381 (GRCm39)		probably benign	Het
Eif4e1b	T	C	13: 54,932,296 (GRCm39)	S49P	probably benign	Het
Far1	C	A	7: 113,149,208 (GRCm39)	P194Q	probably benign	Het
Fut4	T	C	9: 14,662,677 (GRCm39)	T206A	possibly damaging	Het
Galnt7	G	T	8: 58,005,606 (GRCm39)	S209*	probably null	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,237,714 (GRCm39)		probably benign	Het
Ighv1-9	T	A	12: 114,547,416 (GRCm39)	K42*	probably null	Het
Kif20a	C	T	18: 34,764,994 (GRCm39)	R743W	probably damaging	Het
Lama2	G	A	10: 27,298,554 (GRCm39)	R181C	probably damaging	Het
Lrp2	G	T	2: 69,336,692 (GRCm39)	T1360K	probably benign	Het
Map4k1	G	A	7: 28,688,020 (GRCm39)	V177I	probably damaging	Het
Nbea	G	A	3: 55,989,800 (GRCm39)	T352I	probably damaging	Het
Nde1	A	G	16: 14,006,200 (GRCm39)	T82A	possibly damaging	Het
Nes	A	G	3: 87,883,349 (GRCm39)	E536G	probably damaging	Het
Nms	C	T	1: 38,978,377 (GRCm39)	P4L	probably benign	Het
Nrip1	T	C	16: 76,088,293 (GRCm39)	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 73,393,423 (GRCm39)	K229E	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Or52ad1	A	G	7: 102,995,290 (GRCm39)	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,277,796 (GRCm39)	S259T	probably benign	Het
Pdcd5	T	C	7: 35,345,605 (GRCm39)	D102G	possibly damaging	Het
Pgm1	T	C	4: 99,819,337 (GRCm39)	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,280,186 (GRCm39)	E121K	probably benign	Het
Plin3	T	C	17: 56,593,555 (GRCm39)	Y53C	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Polr2c	A	T	8: 95,590,090 (GRCm39)	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3gap2	G	A	1: 184,967,539 (GRCm39)	S141N	probably damaging	Het
Radx	T	C	X: 138,381,645 (GRCm39)	V134A	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rnf166	A	G	8: 123,196,979 (GRCm39)	L91P	probably damaging	Het
Robo2	T	A	16: 73,745,154 (GRCm39)	M200L	probably damaging	Het
Rp1	A	T	1: 4,418,147 (GRCm39)	H988Q	probably benign	Het
Sbno2	T	C	10: 79,908,192 (GRCm39)	K69R	probably null	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Shc3	C	G	13: 51,634,130 (GRCm39)		probably null	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Sptbn4	A	C	7: 27,123,223 (GRCm39)	L233R	probably damaging	Het
Stx5a	A	G	19: 8,727,104 (GRCm39)	T252A	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmem87b	C	T	2: 128,688,670 (GRCm39)	A485V	probably benign	Het
Tns1	A	G	1: 74,024,908 (GRCm39)	I403T	probably damaging	Het
Ttll10	G	C	4: 156,133,018 (GRCm39)	T22R	possibly damaging	Het
Uevld	A	T	7: 46,589,890 (GRCm39)	S293T	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,782,345 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,505,641 (GRCm39)	S18P	probably benign	Het
Vmn2r61	A	T	7: 41,950,157 (GRCm39)	H859L	probably benign	Het
Vmn2r61	T	C	7: 41,950,159 (GRCm39)	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,387,036 (GRCm39)	R843*	probably null	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp715	T	C	7: 42,960,516 (GRCm39)	D25G	probably damaging	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
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
R5212:Gas2l1	UTSW	11	5,011,108 (GRCm39)	missense	probably benign	0.24
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'- CATATGTACTCTTAGTGGGGAAGGC -3'
(R):5'- TGGTGCTACGCAAGAACGAG -3'

Sequencing Primer
(F):5'- TGAGAATGGGCCCCTGGAG -3'
(R):5'- AGAAGAGTGTGGTGCTCTGCC -3'

Posted On

2015-07-07