Incidental Mutation 'R6447:Axl'
ID |
519227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
MMRRC Submission |
044389-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25469708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 476
(R476I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
AlphaFold |
Q00993 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002677
AA Change: R485I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: R485I
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: R476I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: R476I
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 |
unknown
Transcript: ENSMUST00000132038
AA Change: R108I
|
SMART Domains |
Protein: ENSMUSP00000114907 Gene: ENSMUSG00000002602 AA Change: R108I
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
G |
3: 59,772,819 (GRCm39) |
I108V |
probably damaging |
Het |
Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,842,624 (GRCm39) |
|
probably null |
Het |
Sccpdh |
A |
G |
1: 179,506,453 (GRCm39) |
*131W |
probably null |
Het |
Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
T |
C |
5: 86,676,086 (GRCm39) |
Y365C |
probably damaging |
Het |
Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
Zswim2 |
T |
C |
2: 83,745,457 (GRCm39) |
|
probably null |
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 |
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'- CGTCTACTGTTCTAAGGCTGTG -3'
(R):5'- GGAGTGCTAATTCCAGATGTGC -3'
Sequencing Primer
(F):5'- TGGTGCAAGCCTCACAGTG -3'
(R):5'- GTGCTAATTCCAGATGTGCTCAGC -3'
|
Posted On |
2018-05-24 |