Incidental Mutation 'IGL01348:Axl'
| ID |
75173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25462734 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q00993 |
| 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: 23,467,213 (GRCm39) |
E140G |
probably null |
Het |
| Adgrl3 |
A |
G |
5: 81,874,570 (GRCm39) |
T956A |
probably damaging |
Het |
| Aff4 |
G |
A |
11: 53,293,327 (GRCm39) |
S772N |
probably benign |
Het |
| Ark2n |
A |
G |
18: 77,761,613 (GRCm39) |
I233T |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,390 (GRCm39) |
I492M |
probably benign |
Het |
| Atf4 |
T |
C |
15: 80,140,728 (GRCm39) |
|
probably benign |
Het |
| Atrip |
A |
G |
9: 108,898,363 (GRCm39) |
S219P |
probably damaging |
Het |
| B3gnt3 |
T |
A |
8: 72,145,648 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,764,031 (GRCm39) |
V915A |
possibly damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,890 (GRCm39) |
V329A |
possibly damaging |
Het |
| Celf3 |
C |
A |
3: 94,395,535 (GRCm39) |
Q388K |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,328,591 (GRCm39) |
S292P |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
| Clec18a |
G |
A |
8: 111,798,245 (GRCm39) |
A423V |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,870,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,960,596 (GRCm39) |
H3273P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,817 (GRCm39) |
V157E |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,679 (GRCm39) |
I87T |
probably damaging |
Het |
| Ell3 |
A |
G |
2: 121,272,277 (GRCm39) |
S66P |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,950,798 (GRCm39) |
F631L |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,784 (GRCm39) |
V1289D |
probably damaging |
Het |
| Gm16372 |
T |
C |
12: 24,543,606 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
C |
T |
7: 141,718,909 (GRCm39) |
C173Y |
unknown |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,042 (GRCm39) |
H285L |
unknown |
Het |
| Gykl1 |
A |
T |
18: 52,827,808 (GRCm39) |
I339F |
possibly damaging |
Het |
| H60b |
A |
C |
10: 22,162,078 (GRCm39) |
N101T |
possibly damaging |
Het |
| Inpp4a |
C |
T |
1: 37,427,986 (GRCm39) |
T407I |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,861 (GRCm39) |
N331S |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,783 (GRCm39) |
C430S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,995,564 (GRCm39) |
S1G |
probably null |
Het |
| Mybpc2 |
C |
A |
7: 44,165,352 (GRCm39) |
M372I |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,702,629 (GRCm39) |
T1768S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,606 (GRCm39) |
K1063E |
probably damaging |
Het |
| Nat8f5 |
A |
T |
6: 85,794,862 (GRCm39) |
F33I |
probably damaging |
Het |
| Nbeal2 |
T |
G |
9: 110,458,214 (GRCm39) |
N2119T |
probably damaging |
Het |
| Nek11 |
C |
T |
9: 105,270,112 (GRCm39) |
G37S |
probably damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,177,974 (GRCm39) |
N479D |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,772 (GRCm39) |
T477A |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,063,177 (GRCm39) |
H144L |
probably benign |
Het |
| Or5h18 |
T |
A |
16: 58,848,157 (GRCm39) |
T38S |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,581,066 (GRCm39) |
V259A |
probably benign |
Het |
| Pmm1 |
A |
G |
15: 81,836,219 (GRCm39) |
V131A |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,511,831 (GRCm39) |
D908E |
probably damaging |
Het |
| Psg29 |
A |
C |
7: 16,944,598 (GRCm39) |
R369S |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,547,765 (GRCm39) |
D211V |
probably damaging |
Het |
| Rdh9 |
A |
G |
10: 127,612,661 (GRCm39) |
N103S |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,286,020 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
A |
T |
13: 33,275,398 (GRCm39) |
Q174H |
probably benign |
Het |
| Sgip1 |
G |
T |
4: 102,772,353 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
T |
12: 75,781,767 (GRCm39) |
Y191N |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,036,051 (GRCm39) |
N641S |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,906,422 (GRCm39) |
N399S |
probably damaging |
Het |
| Snx16 |
C |
T |
3: 10,484,219 (GRCm39) |
A335T |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,664,866 (GRCm39) |
R355H |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,250,821 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,387,902 (GRCm39) |
D344E |
probably benign |
Het |
| Tek |
C |
A |
4: 94,747,895 (GRCm39) |
Q988K |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,979,299 (GRCm39) |
D143G |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,735,511 (GRCm39) |
K713R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,808,858 (GRCm39) |
E556V |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,855,015 (GRCm39) |
K1891N |
probably damaging |
Het |
| Trpv1 |
G |
A |
11: 73,129,078 (GRCm39) |
|
probably null |
Het |
| Usp37 |
T |
C |
1: 74,500,861 (GRCm39) |
S567G |
probably damaging |
Het |
| Zfp773 |
A |
T |
7: 7,138,314 (GRCm39) |
V107D |
possibly damaging |
Het |
|
| Other mutations in Axl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Axl
|
APN |
7 |
25,485,324 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00428:Axl
|
APN |
7 |
25,460,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00725:Axl
|
APN |
7 |
25,463,908 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01350:Axl
|
APN |
7 |
25,458,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01357:Axl
|
APN |
7 |
25,473,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02314:Axl
|
APN |
7 |
25,486,345 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02321:Axl
|
APN |
7 |
25,458,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Axl
|
APN |
7 |
25,466,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02878:Axl
|
APN |
7 |
25,458,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0125:Axl
|
UTSW |
7 |
25,486,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0529:Axl
|
UTSW |
7 |
25,486,712 (GRCm39) |
splice site |
probably benign |
|
|
R0539:Axl
|
UTSW |
7 |
25,478,142 (GRCm39) |
unclassified |
probably benign |
|
|
R0614:Axl
|
UTSW |
7 |
25,473,588 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0747:Axl
|
UTSW |
7 |
25,463,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1599:Axl
|
UTSW |
7 |
25,463,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Axl
|
UTSW |
7 |
25,460,191 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1880:Axl
|
UTSW |
7 |
25,473,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Axl
|
UTSW |
7 |
25,470,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Axl
|
UTSW |
7 |
25,486,941 (GRCm39) |
missense |
probably benign |
|
|
R2877:Axl
|
UTSW |
7 |
25,465,949 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3802:Axl
|
UTSW |
7 |
25,487,902 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3915:Axl
|
UTSW |
7 |
25,460,169 (GRCm39) |
splice site |
probably benign |
|
|
R4064:Axl
|
UTSW |
7 |
25,463,445 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4072:Axl
|
UTSW |
7 |
25,463,336 (GRCm39) |
unclassified |
probably benign |
|
|
R4073:Axl
|
UTSW |
7 |
25,463,336 (GRCm39) |
unclassified |
probably benign |
|
|
R4074:Axl
|
UTSW |
7 |
25,463,336 (GRCm39) |
unclassified |
probably benign |
|
|
R4378:Axl
|
UTSW |
7 |
25,458,262 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5039:Axl
|
UTSW |
7 |
25,485,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Axl
|
UTSW |
7 |
25,486,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5328:Axl
|
UTSW |
7 |
25,472,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Axl
|
UTSW |
7 |
25,478,087 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5885:Axl
|
UTSW |
7 |
25,466,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Axl
|
UTSW |
7 |
25,486,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6447:Axl
|
UTSW |
7 |
25,469,708 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6931:Axl
|
UTSW |
7 |
25,460,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Axl
|
UTSW |
7 |
25,486,399 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7355:Axl
|
UTSW |
7 |
25,473,531 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7410:Axl
|
UTSW |
7 |
25,458,208 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8274:Axl
|
UTSW |
7 |
25,463,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8279:Axl
|
UTSW |
7 |
25,463,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8281:Axl
|
UTSW |
7 |
25,463,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8282:Axl
|
UTSW |
7 |
25,463,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8283:Axl
|
UTSW |
7 |
25,463,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8546:Axl
|
UTSW |
7 |
25,473,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8742:Axl
|
UTSW |
7 |
25,463,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9002:Axl
|
UTSW |
7 |
25,478,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9139:Axl
|
UTSW |
7 |
25,460,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Axl
|
UTSW |
7 |
25,469,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9324:Axl
|
UTSW |
7 |
25,460,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Axl
|
UTSW |
7 |
25,473,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Axl
|
UTSW |
7 |
25,462,752 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0027:Axl
|
UTSW |
7 |
25,469,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Axl
|
UTSW |
7 |
25,460,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation