Incidental Mutation 'IGL02321:Axl'
| ID |
288230 |
| 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 # |
IGL02321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25458194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 854
(V854I)
|
| 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: V854I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: V854I
| 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 |
probably damaging
Transcript: ENSMUST00000085948
AA Change: V845I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: V845I
| 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: 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 |
|---|
| Acsf3 |
C |
T |
8: 123,506,853 (GRCm39) |
R49C |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,474,249 (GRCm39) |
Y13C |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,154,218 (GRCm39) |
D273G |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,122,873 (GRCm39) |
S673P |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,190 (GRCm39) |
S40P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,871,107 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,059 (GRCm39) |
E517G |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chml |
G |
A |
1: 175,519,900 (GRCm39) |
P68L |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,246,056 (GRCm39) |
E1476G |
probably benign |
Het |
| Cstdc6 |
A |
G |
16: 36,143,388 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,139 (GRCm39) |
V41A |
probably damaging |
Het |
| Gm4781 |
T |
A |
10: 100,232,752 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
T |
5: 124,137,953 (GRCm39) |
I760F |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,614 (GRCm39) |
L476P |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 71,048,920 (GRCm39) |
N333S |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,091 (GRCm39) |
|
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,160,314 (GRCm39) |
T649A |
probably benign |
Het |
| Mgat1 |
T |
C |
11: 49,152,536 (GRCm39) |
F340L |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mmaa |
T |
G |
8: 80,000,759 (GRCm39) |
Y233S |
probably damaging |
Het |
| Ntsr1 |
G |
T |
2: 180,180,627 (GRCm39) |
|
probably null |
Het |
| Or2o1 |
T |
G |
11: 49,051,602 (GRCm39) |
Y254D |
probably damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,229 (GRCm39) |
Y56H |
probably damaging |
Het |
| Pex26 |
C |
T |
6: 121,170,468 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
C |
T |
9: 105,521,677 (GRCm39) |
A81V |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,548,340 (GRCm39) |
S22P |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,985,151 (GRCm39) |
T1448K |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,254,736 (GRCm39) |
Y799* |
probably null |
Het |
| Ryr1 |
A |
C |
7: 28,778,121 (GRCm39) |
L2132R |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,421,325 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,533,164 (GRCm39) |
T164I |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,376,977 (GRCm39) |
V429A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,441 (GRCm39) |
D198G |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,965,773 (GRCm39) |
N832D |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,068 (GRCm39) |
R229* |
probably null |
Het |
| Vps53 |
C |
T |
11: 75,939,364 (GRCm39) |
D680N |
possibly damaging |
Het |
| Wbp1l |
G |
T |
19: 46,642,749 (GRCm39) |
G234V |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,070,475 (GRCm39) |
S1098T |
probably damaging |
Het |
| Yod1 |
T |
A |
1: 130,646,688 (GRCm39) |
D188E |
probably damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,907 (GRCm39) |
D105G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation