Incidental Mutation 'R8282:Axl'
| ID |
638253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| MMRRC Submission |
067705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25463379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 633
(D633N)
|
| 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: D633N
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: D633N
| 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 damaging
Transcript: ENSMUST00000085948
AA Change: D624N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: D624N
| 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 |
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Adcy10 |
T |
A |
1: 165,337,906 (GRCm39) |
D173E |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,605,371 (GRCm39) |
D721G |
possibly damaging |
Het |
| Allc |
T |
C |
12: 28,607,356 (GRCm39) |
T299A |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,575 (GRCm39) |
|
probably benign |
Het |
| Brf2 |
G |
T |
8: 27,614,621 (GRCm39) |
R30S |
|
Het |
| Bsn |
A |
G |
9: 107,984,890 (GRCm39) |
S283P |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,912,740 (GRCm39) |
S233T |
possibly damaging |
Het |
| Chst15 |
T |
A |
7: 131,871,879 (GRCm39) |
H134L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,284,276 (GRCm39) |
T846A |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,591,572 (GRCm39) |
D555V |
probably damaging |
Het |
| Cyld |
C |
A |
8: 89,432,043 (GRCm39) |
P14T |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,176,738 (GRCm39) |
R1264H |
possibly damaging |
Het |
| Dkk3 |
T |
A |
7: 111,717,489 (GRCm39) |
S327C |
probably damaging |
Het |
| Dnmbp |
T |
G |
19: 43,879,005 (GRCm39) |
H22P |
unknown |
Het |
| Duxf4 |
T |
G |
10: 58,072,148 (GRCm39) |
Q22P |
possibly damaging |
Het |
| Fabp4 |
T |
A |
3: 10,270,342 (GRCm39) |
T103S |
probably benign |
Het |
| Fam43a |
T |
C |
16: 30,420,106 (GRCm39) |
L230P |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fank1 |
T |
A |
7: 133,478,493 (GRCm39) |
Y186N |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,044,555 (GRCm39) |
R286K |
possibly damaging |
Het |
| Fmnl2 |
G |
A |
2: 52,997,678 (GRCm39) |
|
probably null |
Het |
| Gli2 |
T |
A |
1: 118,765,701 (GRCm39) |
S817C |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gstt2 |
C |
G |
10: 75,668,291 (GRCm39) |
A155P |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,244,757 (GRCm39) |
M213K |
probably benign |
Het |
| Jak1 |
G |
A |
4: 101,036,738 (GRCm39) |
R301* |
probably null |
Het |
| Kdsr |
T |
C |
1: 106,652,727 (GRCm39) |
T302A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,331,123 (GRCm39) |
E460G |
probably damaging |
Het |
| Larp1b |
G |
A |
3: 40,991,245 (GRCm39) |
R193H |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,324,560 (GRCm39) |
K487R |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,809,029 (GRCm39) |
E205G |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,431,580 (GRCm39) |
S1193T |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,852 (GRCm39) |
T268S |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,529 (GRCm39) |
C105* |
probably null |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Padi1 |
T |
C |
4: 140,542,014 (GRCm39) |
H636R |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,097,293 (GRCm39) |
I266T |
probably damaging |
Het |
| Rell2 |
A |
T |
18: 38,090,665 (GRCm39) |
Q114L |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,426,289 (GRCm39) |
|
probably null |
Het |
| Rpia |
T |
C |
6: 70,748,002 (GRCm39) |
N265D |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,723,645 (GRCm39) |
D16G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,006,005 (GRCm39) |
|
probably null |
Het |
| Slc6a3 |
T |
A |
13: 73,705,200 (GRCm39) |
D230E |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Taf6l |
A |
G |
19: 8,750,714 (GRCm39) |
I120T |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,327 (GRCm39) |
V143A |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,969,624 (GRCm39) |
D328G |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,029,523 (GRCm39) |
S1836P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,402,440 (GRCm39) |
L64F |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,601 (GRCm39) |
Y212* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,250,464 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
A |
T |
4: 145,349,547 (GRCm39) |
D328V |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,535 (GRCm39) |
H231Q |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,369 (GRCm39) |
T334S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,536 (GRCm39) |
M207V |
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 |
|
|
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 |
|
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'- ATTCCAAGGCCACCTTATCG -3'
(R):5'- ACCTCCCAAACAATGTGGAG -3'
Sequencing Primer
(F):5'- AAGGCCACCTTATCGTTCTTC -3'
(R):5'- CTCCCAAACAATGTGGAGATTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation