Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Axl'

75173

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Axl

Ensembl Gene

ENSMUSG00000002602

Gene Name

AXL receptor tyrosine kinase

Synonyms

Tyro7, Ufo, Ark

Accession Numbers

Genbank: NM_009465; MGI: 1347244

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

25757273-25788705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25763309 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 656 (R656W)

Ref Sequence

ENSEMBL: ENSMUSP00000083110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000085948]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002677
AA Change: R665W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: R665W

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	35	124	5.53e-6	SMART
IG	139	218	9.06e-2	SMART
FN3	219	312	9.25e-6	SMART
FN3	328	409	2.18e-2	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
TyrKc	530	797	1.91e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085948
AA Change: R656W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: R656W

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	35	124	5.53e-6	SMART
IG	139	218	9.06e-2	SMART
FN3	219	312	9.25e-6	SMART
FN3	328	409	2.18e-2	SMART
transmembrane domain	435	457	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
TyrKc	521	788	1.91e-134	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124442

Predicted Effect

probably benign
Transcript: ENSMUST00000132038

SMART Domains

Protein: ENSMUSP00000114907
Gene: ENSMUSG00000002602

Domain	Start	End	E-Value	Type
Blast:FN3	2	42	8e-20	BLAST
SCOP:d1gh7a2	2	61	4e-7	SMART
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
Pfam:Pkinase_Tyr	154	188	4.1e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137211

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity abnormalities, and aberrant apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in Axl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Axl	APN	7	25785899	missense	probably benign	0.16
IGL00428:Axl	APN	7	25760872	missense	probably damaging	1.00
IGL00725:Axl	APN	7	25764483	missense	probably damaging	0.97
IGL01350:Axl	APN	7	25758750	missense	probably damaging	1.00
IGL01357:Axl	APN	7	25774169	missense	probably benign	0.00
IGL02314:Axl	APN	7	25786920	missense	possibly damaging	0.50
IGL02321:Axl	APN	7	25758769	missense	probably damaging	1.00
IGL02839:Axl	APN	7	25766791	critical splice donor site	probably null
IGL02878:Axl	APN	7	25758877	missense	probably damaging	0.99
R0125:Axl	UTSW	7	25786943	missense	probably benign	0.00
R0529:Axl	UTSW	7	25787287	splice site	probably benign
R0539:Axl	UTSW	7	25778717	unclassified	probably benign
R0614:Axl	UTSW	7	25774163	missense	probably benign	0.18
R0747:Axl	UTSW	7	25764059	missense	possibly damaging	0.95
R1599:Axl	UTSW	7	25763969	missense	probably damaging	0.99
R1727:Axl	UTSW	7	25760766	missense	possibly damaging	0.68
R1880:Axl	UTSW	7	25774548	missense	probably damaging	1.00
R2206:Axl	UTSW	7	25770636	missense	probably damaging	1.00
R2513:Axl	UTSW	7	25787516	missense	probably benign
R2877:Axl	UTSW	7	25766524	missense	probably damaging	0.96
R3802:Axl	UTSW	7	25788477	start codon destroyed	probably null	0.98
R3915:Axl	UTSW	7	25760744	splice site	probably benign
R4064:Axl	UTSW	7	25764020	missense	probably benign	0.36
R4072:Axl	UTSW	7	25763911	unclassified	probably benign
R4073:Axl	UTSW	7	25763911	unclassified	probably benign
R4074:Axl	UTSW	7	25763911	unclassified	probably benign
R4378:Axl	UTSW	7	25758837	missense	probably benign	0.06
R5039:Axl	UTSW	7	25785915	missense	probably damaging	1.00
R5224:Axl	UTSW	7	25786944	missense	probably benign	0.00
R5328:Axl	UTSW	7	25773411	missense	probably damaging	1.00
R5519:Axl	UTSW	7	25778662	missense	possibly damaging	0.93
R5885:Axl	UTSW	7	25766852	missense	probably damaging	1.00
R6367:Axl	UTSW	7	25787433	missense	probably damaging	1.00
R6447:Axl	UTSW	7	25770283	missense	probably damaging	0.96
R6931:Axl	UTSW	7	25761433	missense	probably damaging	1.00
R7172:Axl	UTSW	7	25786974	missense	probably benign	0.33
R7355:Axl	UTSW	7	25774106	missense	probably benign	0.22
R7410:Axl	UTSW	7	25758783	missense	probably benign	0.06
R8274:Axl	UTSW	7	25764013	missense	probably damaging	0.99
R8279:Axl	UTSW	7	25763954	missense	probably benign	0.07
R8281:Axl	UTSW	7	25763954	missense	probably benign	0.07
R8282:Axl	UTSW	7	25763954	missense	probably benign	0.07
R8283:Axl	UTSW	7	25763954	missense	probably benign	0.07
R8546:Axl	UTSW	7	25774163	missense	probably benign	0.00
X0027:Axl	UTSW	7	25770268	missense	probably damaging	1.00
Z1177:Axl	UTSW	7	25761526	missense	probably damaging	1.00

Posted On

2013-10-07