Incidental Mutation 'R8742:Axl'
ID |
663284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
MMRRC Submission |
068587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8742 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25463861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 591
(V591A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
AlphaFold |
Q00993 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002677
AA Change: V591A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: V591A
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: V582A
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: V582A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
100% (55/55) |
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 |
Adgrb3 |
T |
C |
1: 25,265,835 (GRCm39) |
I893V |
probably benign |
Het |
Adhfe1 |
A |
G |
1: 9,630,401 (GRCm39) |
I317V |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,171,556 (GRCm39) |
V951A |
probably damaging |
Het |
Ankrd35 |
T |
A |
3: 96,586,502 (GRCm39) |
H59Q |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,694,620 (GRCm39) |
T161I |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,783,741 (GRCm39) |
I45V |
unknown |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,029,390 (GRCm39) |
F986L |
probably damaging |
Het |
Cfh |
G |
T |
1: 140,064,469 (GRCm39) |
T393K |
probably damaging |
Het |
Clic1 |
A |
G |
17: 35,274,356 (GRCm39) |
N179S |
probably benign |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dst |
T |
A |
1: 34,251,425 (GRCm39) |
D2159E |
probably benign |
Het |
Epn3 |
T |
G |
11: 94,386,921 (GRCm39) |
T150P |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,724,828 (GRCm39) |
Y310H |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,593 (GRCm39) |
Y727C |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gdf10 |
A |
T |
14: 33,654,426 (GRCm39) |
H311L |
probably benign |
Het |
Gphn |
C |
T |
12: 78,659,766 (GRCm39) |
R423C |
probably damaging |
Het |
Gpr132 |
T |
C |
12: 112,819,517 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,744,143 (GRCm39) |
T406K |
probably benign |
Het |
Hpf1 |
T |
C |
8: 61,346,748 (GRCm39) |
V21A |
probably benign |
Het |
Ifitm6 |
A |
G |
7: 140,596,008 (GRCm39) |
I75T |
probably benign |
Het |
Itgax |
A |
T |
7: 127,743,795 (GRCm39) |
H852L |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,159,021 (GRCm39) |
Y546C |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,644,571 (GRCm39) |
L578P |
possibly damaging |
Het |
Ltbp1 |
A |
G |
17: 75,617,217 (GRCm39) |
Y734C |
probably damaging |
Het |
Mapre2 |
C |
A |
18: 24,016,688 (GRCm39) |
H281N |
probably benign |
Het |
Mcm4 |
T |
C |
16: 15,443,430 (GRCm39) |
D831G |
possibly damaging |
Het |
Mlf1 |
G |
A |
3: 67,305,119 (GRCm39) |
A207T |
probably damaging |
Het |
Mslnl |
A |
T |
17: 25,964,047 (GRCm39) |
I459F |
probably damaging |
Het |
Mtnr1a |
A |
G |
8: 45,540,720 (GRCm39) |
D227G |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,216 (GRCm39) |
L803Q |
probably damaging |
Het |
Nr3c2 |
T |
G |
8: 77,635,210 (GRCm39) |
S104A |
probably damaging |
Het |
Or4k52 |
A |
G |
2: 111,610,910 (GRCm39) |
I82V |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,050,592 (GRCm39) |
A218V |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,984,957 (GRCm39) |
N439Y |
possibly damaging |
Het |
Pramel34 |
T |
A |
5: 93,785,935 (GRCm39) |
D115V |
probably damaging |
Het |
Ret |
A |
T |
6: 118,155,484 (GRCm39) |
L404Q |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,272 (GRCm39) |
V157D |
probably damaging |
Het |
Rsf1 |
CGGCGGCGGCGGCGGCGGCGGC |
CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,395,895 (GRCm39) |
N298K |
probably benign |
Het |
Sh3pxd2a |
G |
A |
19: 47,275,073 (GRCm39) |
S230L |
probably benign |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Skint11 |
T |
C |
4: 114,051,922 (GRCm39) |
I90T |
probably damaging |
Het |
Slc36a4 |
A |
G |
9: 15,632,039 (GRCm39) |
T72A |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,865,818 (GRCm39) |
I505K |
probably damaging |
Het |
Sprr3 |
C |
T |
3: 92,364,307 (GRCm39) |
R179H |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,058,661 (GRCm39) |
I7284N |
probably benign |
Het |
Timeless |
A |
T |
10: 128,083,107 (GRCm39) |
T648S |
probably benign |
Het |
Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,469 (GRCm39) |
F815L |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,240,971 (GRCm39) |
L39S |
possibly damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,304,263 (GRCm39) |
T723A |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,070 (GRCm39) |
|
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,230 (GRCm39) |
C383S |
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 |
|
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 |
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'- ACCCTCAGCTATTTCTGGGAAC -3'
(R):5'- GCGTAGGACATCTTAAGATCCAG -3'
Sequencing Primer
(F):5'- AACAGGTCAGGGGTCGCATTC -3'
(R):5'- AATTTGGATGATGATGATGATGATGG -3'
|
Posted On |
2021-03-08 |