Incidental Mutation 'R4073:Axl'
| ID |
316397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| MMRRC Submission |
041621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 25463336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
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: ENSMUST00000137211
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (67/70) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,494 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12 |
T |
C |
11: 70,138,136 (GRCm39) |
N400D |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,851,979 (GRCm39) |
C8Y |
possibly damaging |
Het |
| Ccdc103 |
C |
T |
11: 102,774,925 (GRCm39) |
R175W |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,431,578 (GRCm39) |
F171L |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,896,296 (GRCm39) |
S768R |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,257 (GRCm39) |
D208G |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,996,619 (GRCm39) |
E211G |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,180,025 (GRCm39) |
R91G |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Il23r |
A |
G |
6: 67,463,106 (GRCm39) |
I129T |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,352,497 (GRCm39) |
S79G |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Lrrc71 |
G |
A |
3: 87,652,569 (GRCm39) |
T185I |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,292,185 (GRCm39) |
D219G |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,633,832 (GRCm39) |
S2342T |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,798,958 (GRCm39) |
S10G |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nrm |
T |
A |
17: 36,172,424 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,395,541 (GRCm39) |
H1047Q |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,888 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,500 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,337 (GRCm39) |
F111L |
probably benign |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,155 (GRCm39) |
I184F |
probably damaging |
Het |
| Or8b38 |
T |
C |
9: 37,973,165 (GRCm39) |
L183P |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,424 (GRCm39) |
Y112C |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
| Phactr1 |
ACTT |
A |
13: 43,213,245 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,127,788 (GRCm39) |
R116C |
probably damaging |
Het |
| Rab39b |
T |
C |
X: 74,618,658 (GRCm39) |
|
probably benign |
Het |
| Rpp25 |
T |
C |
9: 57,411,592 (GRCm39) |
S25P |
probably benign |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Sbk3 |
G |
T |
7: 4,973,501 (GRCm39) |
A41D |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,455,636 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,707,104 (GRCm39) |
I565V |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,468,887 (GRCm39) |
T275A |
probably benign |
Het |
| Spink12 |
A |
G |
18: 44,237,731 (GRCm39) |
N3S |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,915,633 (GRCm39) |
L431P |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,802 (GRCm39) |
Y2* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,606 (GRCm39) |
V175A |
probably damaging |
Het |
| Usp21 |
T |
C |
1: 171,109,746 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,572 (GRCm39) |
V239A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,384 (GRCm39) |
C1514F |
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 |
|
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 |
|
|
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'- AGGTCACCCTTTCAGTCAGG -3'
(R):5'- GAATAACTGATCTTCCTGGGGTG -3'
Sequencing Primer
(F):5'- ATTAATTCCAAGGCCACCTTATCG -3'
(R):5'- CATGAAACACGGAGACCT -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation