Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Gas6'

40534

Institutional Source

Beutler Lab

Gene Symbol

Gas6

Ensembl Gene

ENSMUSG00000031451

Gene Name

growth arrest specific 6

Synonyms

growth arrest-specific, Gas-6, GAS 6

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13515374-13544490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13520387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 434 (I434V)

Ref Sequence

ENSEMBL: ENSMUSP00000033828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033828]

AlphaFold

Q61592

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033828
AA Change: I434V

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451
AA Change: I434V

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
GLA	26	90	6.66e-30	SMART
EGF	116	151	3.97e0	SMART
EGF_CA	153	193	3.1e-11	SMART
EGF_CA	194	234	1.91e-11	SMART
EGF_CA	235	275	1.25e-6	SMART
LamG	314	450	2.71e-24	SMART
LamG	502	647	1.27e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211356

Meta Mutation Damage Score

0.0764

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice are protected against arterial and venous thrombosis, and though platelet aggregation is impaired, spontaneous or excess trauma-induced bleeding is not observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	C	11: 119,909,606 (GRCm39)	V110G	probably damaging	Het
Adcy6	A	C	15: 98,495,606 (GRCm39)		probably null	Het
Adm	A	G	7: 110,228,328 (GRCm39)	T170A	probably benign	Het
Afap1l2	G	T	19: 56,918,641 (GRCm39)	N171K	probably benign	Het
Aph1b	G	T	9: 66,697,900 (GRCm39)	S112*	probably null	Het
Arhgap23	A	G	11: 97,342,989 (GRCm39)	S424G	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Braf	G	A	6: 39,617,483 (GRCm39)		probably benign	Het
Brd2	C	T	17: 34,333,334 (GRCm39)	R47Q	probably damaging	Het
C2cd5	A	G	6: 142,957,819 (GRCm39)	V972A	probably benign	Het
Car9	T	A	4: 43,511,881 (GRCm39)	L300H	probably damaging	Het
Chmp3	T	C	6: 71,529,395 (GRCm39)	S20P	probably damaging	Het
Chp1	A	G	2: 119,402,263 (GRCm39)	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,334,260 (GRCm39)	I335N	probably damaging	Het
Cntnap4	T	C	8: 113,296,783 (GRCm39)	V6A	probably benign	Het
Ctcf	T	A	8: 106,401,672 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 138,967,724 (GRCm39)		probably benign	Het
Dnmbp	A	G	19: 43,845,079 (GRCm39)		probably benign	Het
Eef2	T	C	10: 81,017,420 (GRCm39)	F782L	probably benign	Het
Eogt	T	A	6: 97,112,194 (GRCm39)	Y153F	probably benign	Het
Fam81a	G	T	9: 70,003,401 (GRCm39)	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,174,228 (GRCm39)	T2162S	probably benign	Het
Fcgbpl1	T	A	7: 27,846,890 (GRCm39)	C1158S	probably damaging	Het
Gm42417	A	T	1: 36,571,248 (GRCm39)	L77Q	probably damaging	Het
Grik3	A	T	4: 125,517,303 (GRCm39)	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,114,985 (GRCm39)	V974E	probably damaging	Het
Helz2	A	G	2: 180,871,449 (GRCm39)	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt73	A	G	15: 101,710,665 (GRCm39)	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,158,772 (GRCm39)		probably benign	Het
Lrrc15	A	T	16: 30,091,710 (GRCm39)	V543E	probably damaging	Het
Med13	G	A	11: 86,167,809 (GRCm39)		probably benign	Het
Med25	T	C	7: 44,541,524 (GRCm39)	D60G	probably damaging	Het
Mgam	T	A	6: 40,641,826 (GRCm39)	Y560N	probably damaging	Het
Mlkl	A	G	8: 112,054,505 (GRCm39)	Y211H	probably damaging	Het
Msl2	A	G	9: 100,978,493 (GRCm39)	N289S	probably benign	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,235,513 (GRCm39)		probably benign	Het
Or4k37	A	G	2: 111,159,175 (GRCm39)	D137G	probably benign	Het
Pald1	A	G	10: 61,177,094 (GRCm39)	L652P	probably damaging	Het
Pard3b	T	A	1: 62,479,167 (GRCm39)		probably null	Het
Prdm15	G	A	16: 97,595,534 (GRCm39)	T1098I	possibly damaging	Het
Rock2	A	G	12: 17,004,954 (GRCm39)	T436A	probably benign	Het
Sema4c	A	T	1: 36,588,689 (GRCm39)	D812E	probably benign	Het
Sla	A	T	15: 66,664,098 (GRCm39)	I91K	probably benign	Het
Slc22a16	T	G	10: 40,460,963 (GRCm39)	M255R	probably damaging	Het
Slc49a4	A	T	16: 35,555,974 (GRCm39)	V162D	probably benign	Het
Smg8	C	T	11: 86,976,910 (GRCm39)	D224N	possibly damaging	Het
Spdef	A	T	17: 27,937,032 (GRCm39)	D190E	probably benign	Het
Taok1	A	G	11: 77,464,630 (GRCm39)	I152T	probably damaging	Het
Tmem220	A	G	11: 66,916,748 (GRCm39)	D36G	probably damaging	Het
Tmem235	A	C	11: 117,755,177 (GRCm39)	I210L	probably benign	Het
Tmem266	C	T	9: 55,288,168 (GRCm39)		probably null	Het
Tmprss12	A	G	15: 100,178,920 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Usp38	T	A	8: 81,711,053 (GRCm39)		probably benign	Het
Usp44	C	T	10: 93,682,668 (GRCm39)	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,990,118 (GRCm39)	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,367,953 (GRCm39)	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,595,394 (GRCm39)	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,239,755 (GRCm39)	Y269*	probably null	Het
Zan	C	T	5: 137,410,938 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,306 (GRCm39)	V192L	probably benign	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,378,299 (GRCm39)		probably benign	Het
Zhx3	A	T	2: 160,621,914 (GRCm39)	L751*	probably null	Het
Znfx1	T	A	2: 166,897,331 (GRCm39)	Q531L	probably benign	Het

Other mutations in Gas6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Gas6	APN	8	13,526,171 (GRCm39)	missense	probably damaging	0.99
IGL01100:Gas6	APN	8	13,525,118 (GRCm39)	missense	probably benign	0.27
IGL02014:Gas6	APN	8	13,518,359 (GRCm39)	missense	possibly damaging	0.59
IGL02931:Gas6	APN	8	13,527,136 (GRCm39)	missense	probably damaging	0.98
R0023:Gas6	UTSW	8	13,520,344 (GRCm39)	missense	probably damaging	1.00
R1126:Gas6	UTSW	8	13,533,700 (GRCm39)	missense	probably benign	0.02
R1597:Gas6	UTSW	8	13,543,901 (GRCm39)	missense	probably damaging	1.00
R1601:Gas6	UTSW	8	13,515,786 (GRCm39)	missense	probably damaging	1.00
R1643:Gas6	UTSW	8	13,515,902 (GRCm39)	critical splice acceptor site	probably null
R1914:Gas6	UTSW	8	13,527,152 (GRCm39)	missense	probably benign
R1967:Gas6	UTSW	8	13,520,317 (GRCm39)	missense	probably damaging	0.98
R2012:Gas6	UTSW	8	13,518,266 (GRCm39)	missense	probably damaging	1.00
R4663:Gas6	UTSW	8	13,520,254 (GRCm39)	missense	probably damaging	1.00
R4723:Gas6	UTSW	8	13,516,848 (GRCm39)	missense	probably damaging	0.99
R4750:Gas6	UTSW	8	13,526,227 (GRCm39)	missense	probably benign	0.29
R4869:Gas6	UTSW	8	13,525,086 (GRCm39)	missense	possibly damaging	0.55
R5558:Gas6	UTSW	8	13,516,764 (GRCm39)	missense	probably null	0.03
R5706:Gas6	UTSW	8	13,527,098 (GRCm39)	missense	probably damaging	0.98
R5791:Gas6	UTSW	8	13,520,217 (GRCm39)	critical splice donor site	probably null
R6767:Gas6	UTSW	8	13,515,784 (GRCm39)	missense	probably damaging	0.98
R6825:Gas6	UTSW	8	13,533,674 (GRCm39)	missense	probably benign	0.00
R7374:Gas6	UTSW	8	13,524,802 (GRCm39)	missense	probably damaging	0.99
R7419:Gas6	UTSW	8	13,521,456 (GRCm39)	missense	probably benign	0.19
R7588:Gas6	UTSW	8	13,516,711 (GRCm39)	missense	probably benign	0.03
R7810:Gas6	UTSW	8	13,516,809 (GRCm39)	missense	probably damaging	1.00
R8222:Gas6	UTSW	8	13,520,276 (GRCm39)	missense	probably benign	0.00
R8527:Gas6	UTSW	8	13,515,790 (GRCm39)	missense	probably damaging	1.00
R8705:Gas6	UTSW	8	13,525,156 (GRCm39)	missense	probably damaging	1.00
R8987:Gas6	UTSW	8	13,520,294 (GRCm39)	missense	probably damaging	1.00
R9553:Gas6	UTSW	8	13,525,048 (GRCm39)	missense	possibly damaging	0.84
R9672:Gas6	UTSW	8	13,528,273 (GRCm39)	missense	probably benign	0.00
X0063:Gas6	UTSW	8	13,521,538 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTAGGTAGCAAATCCATTCCCCG -3'
(R):5'- TGCACACCGTAAGCATGTGGTTAAG -3'

Sequencing Primer
(F):5'- GTGTTTGCCTTGACTGTCTC -3'
(R):5'- CTTACACAGTCAGGTGGCAG -3'

Posted On

2013-05-23