Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Gas6'

173675

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

039679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13515374-13544490 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 13515902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033828] [ENSMUST00000167071] [ENSMUST00000167505] [ENSMUST00000210804]

AlphaFold

Q61592

Predicted Effect

probably null
Transcript: ENSMUST00000033828

SMART Domains

Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451

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

probably benign
Transcript: ENSMUST00000167071

SMART Domains

Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457

Domain	Start	End	E-Value	Type
Pfam:FAM70	1	68	8.2e-28	PFAM
Pfam:FAM70	66	307	1.8e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167505

SMART Domains

Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457

Domain	Start	End	E-Value	Type
Pfam:FAM70	6	328	6e-166	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209950

Predicted Effect

probably benign
Transcript: ENSMUST00000210804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211356

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Actr3b	A	G	5: 26,017,009 (GRCm39)	D19G	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Casr	T	C	16: 36,320,567 (GRCm39)	K527R	probably damaging	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,869,456 (GRCm39)	L486P	probably damaging	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,416,916 (GRCm39)	Y40N	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Slc17a3	T	C	13: 24,041,181 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	probably damaging	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
R0497:Gas6	UTSW	8	13,520,387 (GRCm39)	missense	possibly damaging	0.86
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
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'- CGACACCCGTCCCATTATGTACAG -3'
(R):5'- CAGAATCAAAGGCATGGGGACTCAC -3'

Sequencing Primer
(F):5'- AGTGCTGTGTGTCCAAACC -3'
(R):5'- GGCATGGGGACTCACAATATAAG -3'

Posted On

2014-04-24