Incidental Mutation 'IGL02878:Axl'
| ID |
362714 |
| 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 # |
IGL02878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25458302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 818
(M818L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000043765]
[ENSMUST00000085948]
[ENSMUST00000108401]
[ENSMUST00000206832]
|
| AlphaFold |
Q00993 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002677
AA Change: M818L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: M818L
| 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: ENSMUST00000043765
|
| SMART Domains |
Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
2.86e-10 |
SMART |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
|
SPRY
|
255 |
388 |
8.49e-41 |
SMART |
|
Pfam:AAA_33
|
424 |
569 |
1.4e-29 |
PFAM |
|
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085948
AA Change: M809L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: M809L
| 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: ENSMUST00000108401
|
| SMART Domains |
Protein: ENSMUSP00000104038
Gene: ENSMUSG00000040725
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
2.86e-10 |
SMART |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
255 |
338 |
2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206832
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
| Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
| Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
| Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
| Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
| Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
| Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
| Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
| Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
| Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
| Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
| Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
| Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
| Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
| Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
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 |
|
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 |
|
|
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