Incidental Mutation 'IGL02839:Axl'
| ID |
361796 |
| 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 # |
IGL02839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 25466216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
| AlphaFold |
Q00993 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002677
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
| 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 null
Transcript: ENSMUST00000085948
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
| 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 null
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,653,816 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,857 (GRCm39) |
F387L |
possibly damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,603 (GRCm39) |
S505P |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,943 (GRCm39) |
T642A |
probably benign |
Het |
| Atg16l2 |
T |
C |
7: 100,942,604 (GRCm39) |
I364V |
probably damaging |
Het |
| Atp2c2 |
T |
C |
8: 120,475,859 (GRCm39) |
V584A |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,969 (GRCm39) |
Q621R |
probably damaging |
Het |
| Cdca4 |
A |
T |
12: 112,785,511 (GRCm39) |
D72E |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,538,748 (GRCm39) |
Y1223N |
unknown |
Het |
| Drc1 |
T |
C |
5: 30,507,767 (GRCm39) |
M263T |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,238 (GRCm39) |
Y213N |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,830,466 (GRCm39) |
D4343Y |
probably damaging |
Het |
| Ftdc1 |
A |
G |
16: 58,436,210 (GRCm39) |
Y38H |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,196 (GRCm39) |
V191A |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,095,734 (GRCm39) |
L355P |
probably damaging |
Het |
| Hdgfl3 |
C |
T |
7: 81,550,160 (GRCm39) |
G58D |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,667 (GRCm39) |
|
probably null |
Het |
| Klf12 |
A |
T |
14: 100,137,675 (GRCm39) |
C290* |
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,437,994 (GRCm39) |
I820N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,740,329 (GRCm39) |
L555Q |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,527 (GRCm39) |
C134R |
probably damaging |
Het |
| Or13c7d |
T |
A |
4: 43,770,943 (GRCm39) |
K23* |
probably null |
Het |
| Or1p1 |
T |
A |
11: 74,180,196 (GRCm39) |
C241* |
probably null |
Het |
| Or4c11c |
G |
A |
2: 88,661,992 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or56a3b |
A |
C |
7: 104,771,563 (GRCm39) |
T300P |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,753 (GRCm39) |
C104S |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,712 (GRCm39) |
N205K |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,417,238 (GRCm39) |
E60G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,939 (GRCm39) |
I1758N |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,460 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
G |
T |
6: 71,486,689 (GRCm39) |
R440L |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,926,852 (GRCm39) |
V237A |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,774 (GRCm39) |
T165A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,539,874 (GRCm39) |
N762S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,193,824 (GRCm39) |
N616S |
probably damaging |
Het |
| Trav14d-3-dv8 |
C |
A |
14: 53,316,247 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Ttll6 |
T |
C |
11: 96,049,646 (GRCm39) |
V788A |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,452,856 (GRCm39) |
S357T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,710,834 (GRCm39) |
H2701R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,116,786 (GRCm39) |
S85P |
probably 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 |
|
IGL01348:Axl
|
APN |
7 |
25,462,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation