Incidental Mutation 'R3915:Axl'
ID |
309593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
MMRRC Submission |
040913-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 25460169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
AlphaFold |
Q00993 |
Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000132989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137211
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
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 |
1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTTCCTTTAGCAATCTCCC -3'
(R):5'- CGCTGTCGACAAATGTCCAC -3'
Sequencing Primer
(F):5'- CACCCCACTGGCATTCTCAGAG -3'
(R):5'- GCTGTCGACAAATGTCCACGTAAG -3'
|
Posted On |
2015-04-17 |