Incidental Mutation 'IGL01357:Axl'
ID |
75554 |
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 # |
IGL01357
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25473594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 344
(L344P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
AlphaFold |
Q00993 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002677
AA Change: L344P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: L344P
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 benign
Transcript: ENSMUST00000085948
AA Change: L344P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: L344P
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 |
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: ENSMUST00000147680
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
C |
A |
8: 125,366,072 (GRCm39) |
V224F |
probably damaging |
Het |
Abca4 |
T |
A |
3: 121,897,232 (GRCm39) |
M637K |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,922,398 (GRCm39) |
V1395A |
probably benign |
Het |
Adam20 |
A |
C |
8: 41,249,597 (GRCm39) |
D569A |
probably benign |
Het |
B3gat1 |
T |
C |
9: 26,668,283 (GRCm39) |
L291P |
probably damaging |
Het |
Cdc25c |
A |
T |
18: 34,867,910 (GRCm39) |
|
probably null |
Het |
Crat |
A |
T |
2: 30,297,736 (GRCm39) |
Y263N |
probably damaging |
Het |
Crb2 |
A |
G |
2: 37,685,523 (GRCm39) |
|
probably benign |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dnah7a |
A |
T |
1: 53,701,540 (GRCm39) |
V205D |
probably benign |
Het |
Emsy |
A |
T |
7: 98,240,077 (GRCm39) |
Y1011* |
probably null |
Het |
Fbln5 |
C |
T |
12: 101,717,146 (GRCm39) |
S414N |
probably damaging |
Het |
Fev |
T |
C |
1: 74,921,683 (GRCm39) |
E89G |
possibly damaging |
Het |
Fgg |
A |
G |
3: 82,921,535 (GRCm39) |
E406G |
possibly damaging |
Het |
Glra1 |
A |
T |
11: 55,405,715 (GRCm39) |
M425K |
possibly damaging |
Het |
Gm8214 |
C |
T |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
Kdm3b |
A |
G |
18: 34,926,067 (GRCm39) |
E69G |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,895,877 (GRCm39) |
V89E |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,206,083 (GRCm39) |
N361I |
unknown |
Het |
Macrod2 |
A |
G |
2: 142,226,250 (GRCm39) |
N457S |
probably damaging |
Het |
Mal |
C |
A |
2: 127,482,234 (GRCm39) |
M56I |
probably damaging |
Het |
Mfsd5 |
C |
T |
15: 102,189,882 (GRCm39) |
T418M |
probably benign |
Het |
Mmaa |
C |
A |
8: 79,994,600 (GRCm39) |
R402L |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,393,115 (GRCm39) |
|
probably benign |
Het |
Nme1 |
A |
G |
11: 93,850,317 (GRCm39) |
S122P |
possibly damaging |
Het |
Nxt1 |
A |
G |
2: 148,517,316 (GRCm39) |
E19G |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,107,874 (GRCm39) |
T994S |
probably benign |
Het |
Orc2 |
T |
G |
1: 58,536,551 (GRCm39) |
E56D |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,536,552 (GRCm39) |
E56G |
probably benign |
Het |
Pid1 |
G |
A |
1: 84,016,026 (GRCm39) |
T113I |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,340,900 (GRCm39) |
|
probably benign |
Het |
Rad50 |
A |
G |
11: 53,597,848 (GRCm39) |
V12A |
probably damaging |
Het |
Serpinb9c |
C |
T |
13: 33,335,862 (GRCm39) |
V197I |
probably benign |
Het |
Sfxn2 |
A |
T |
19: 46,574,212 (GRCm39) |
N134I |
probably damaging |
Het |
Spen |
T |
C |
4: 141,244,424 (GRCm39) |
R204G |
unknown |
Het |
Strip2 |
A |
G |
6: 29,939,166 (GRCm39) |
|
probably benign |
Het |
Tas2r135 |
A |
T |
6: 42,383,078 (GRCm39) |
I206L |
probably benign |
Het |
Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
Tmprss11c |
A |
G |
5: 86,379,666 (GRCm39) |
V401A |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,392,808 (GRCm39) |
I241N |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,781,864 (GRCm39) |
S1015A |
possibly damaging |
Het |
Wee1 |
T |
C |
7: 109,741,242 (GRCm39) |
S622P |
probably benign |
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 |
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 |