Incidental Mutation 'R9002:Axl'
ID |
685023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9002 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25478103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 199
(C199S)
|
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: C199S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: C199S
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 |
possibly damaging
Transcript: ENSMUST00000085948
AA Change: C199S
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: C199S
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,241,926 (GRCm39) |
M1263K |
possibly damaging |
Het |
Abca8b |
C |
T |
11: 109,843,456 (GRCm39) |
D985N |
probably benign |
Het |
Ak5 |
A |
T |
3: 152,359,091 (GRCm39) |
M207K |
probably damaging |
Het |
Akt1 |
T |
C |
12: 112,626,048 (GRCm39) |
I75V |
probably benign |
Het |
Ank |
T |
A |
15: 27,544,413 (GRCm39) |
L58* |
probably null |
Het |
Ap1g1 |
A |
C |
8: 110,581,738 (GRCm39) |
T666P |
probably benign |
Het |
Ap3b2 |
A |
T |
7: 81,117,192 (GRCm39) |
S615T |
probably benign |
Het |
Ash1l |
G |
T |
3: 88,888,715 (GRCm39) |
R198L |
probably benign |
Het |
C1d |
T |
C |
11: 17,212,787 (GRCm39) |
L44S |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Col4a4 |
A |
G |
1: 82,449,032 (GRCm39) |
L1186P |
probably benign |
Het |
Ctdsp2 |
T |
A |
10: 126,832,061 (GRCm39) |
I223N |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,920,822 (GRCm39) |
D4671V |
probably damaging |
Het |
Eml1 |
T |
A |
12: 108,504,438 (GRCm39) |
I799N |
probably damaging |
Het |
Fbxw18 |
G |
A |
9: 109,519,660 (GRCm39) |
T282I |
probably damaging |
Het |
Fmo2 |
A |
T |
1: 162,705,647 (GRCm39) |
C397* |
probably null |
Het |
Gbp10 |
C |
A |
5: 105,369,847 (GRCm39) |
V262L |
probably benign |
Het |
Gm45871 |
A |
T |
18: 90,609,968 (GRCm39) |
H402L |
probably damaging |
Het |
Has1 |
T |
C |
17: 18,063,912 (GRCm39) |
S576G |
unknown |
Het |
Hat1 |
C |
T |
2: 71,271,647 (GRCm39) |
R407W |
probably damaging |
Het |
Hivep2 |
G |
T |
10: 14,008,157 (GRCm39) |
R1585L |
probably benign |
Het |
Ifi211 |
A |
G |
1: 173,733,894 (GRCm39) |
V89A |
possibly damaging |
Het |
Igkv4-59 |
T |
C |
6: 69,415,475 (GRCm39) |
T27A |
possibly damaging |
Het |
Irf9 |
T |
A |
14: 55,845,140 (GRCm39) |
N333K |
possibly damaging |
Het |
Jakmip2 |
C |
T |
18: 43,715,323 (GRCm39) |
V68I |
probably benign |
Het |
Kif1b |
T |
G |
4: 149,275,712 (GRCm39) |
I1400L |
probably damaging |
Het |
Kif2b |
C |
T |
11: 91,467,053 (GRCm39) |
C410Y |
probably benign |
Het |
Klk1b16 |
T |
C |
7: 43,790,189 (GRCm39) |
L153P |
possibly damaging |
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,838,311 (GRCm39) |
C855R |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,904 (GRCm39) |
L947P |
probably damaging |
Het |
Mblac2 |
C |
A |
13: 81,860,072 (GRCm39) |
A142E |
possibly damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,925 (GRCm39) |
S348P |
possibly damaging |
Het |
Mroh8 |
A |
C |
2: 157,058,939 (GRCm39) |
V909G |
probably damaging |
Het |
Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,980,590 (GRCm38) |
L982P |
probably damaging |
Het |
Nlrp4b |
C |
T |
7: 10,448,886 (GRCm39) |
T363I |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,408,134 (GRCm39) |
E120G |
probably damaging |
Het |
Olfml1 |
T |
C |
7: 107,189,423 (GRCm39) |
S163P |
probably damaging |
Het |
Or2n1c |
A |
T |
17: 38,519,555 (GRCm39) |
N140Y |
probably benign |
Het |
Or51a7 |
A |
T |
7: 102,614,618 (GRCm39) |
I104F |
probably damaging |
Het |
Or6ae1 |
T |
C |
7: 139,742,198 (GRCm39) |
I222V |
probably damaging |
Het |
Or8b43 |
T |
A |
9: 38,360,171 (GRCm39) |
M1K |
probably null |
Het |
Or8i2 |
T |
C |
2: 86,852,241 (GRCm39) |
T216A |
probably benign |
Het |
Pde6a |
T |
A |
18: 61,419,060 (GRCm39) |
L812Q |
probably damaging |
Het |
Pdxp |
T |
A |
15: 78,802,459 (GRCm39) |
M231K |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,117,317 (GRCm39) |
L1368P |
|
Het |
Ppie |
T |
C |
4: 123,024,344 (GRCm39) |
N171S |
possibly damaging |
Het |
Rimbp2 |
T |
C |
5: 128,865,356 (GRCm39) |
H657R |
probably benign |
Het |
Sarnp |
T |
A |
10: 128,657,842 (GRCm39) |
|
probably null |
Het |
Serpinb9c |
T |
C |
13: 33,334,329 (GRCm39) |
T266A |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,757,854 (GRCm39) |
I218F |
possibly damaging |
Het |
Susd1 |
C |
A |
4: 59,324,882 (GRCm39) |
W717L |
probably benign |
Het |
Tgfbi |
A |
G |
13: 56,771,402 (GRCm39) |
Y88C |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,661,308 (GRCm39) |
F624Y |
probably damaging |
Het |
Tnni2 |
A |
G |
7: 141,998,013 (GRCm39) |
E172G |
probably damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,433,178 (GRCm39) |
S316P |
probably benign |
Het |
Tshr |
C |
A |
12: 91,504,548 (GRCm39) |
N495K |
possibly damaging |
Het |
Ulk3 |
C |
A |
9: 57,500,542 (GRCm39) |
A317E |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,275,412 (GRCm39) |
V2229A |
possibly damaging |
Het |
Usp32 |
G |
A |
11: 84,944,777 (GRCm39) |
R304C |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,935,063 (GRCm39) |
G28D |
probably benign |
Het |
Vmn1r41 |
A |
G |
6: 89,724,109 (GRCm39) |
K217E |
possibly damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,507,284 (GRCm39) |
K676M |
probably benign |
Het |
Vnn1 |
A |
G |
10: 23,775,349 (GRCm39) |
T200A |
possibly damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,302,176 (GRCm39) |
L698P |
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 |
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 |
R8742:Axl
|
UTSW |
7 |
25,463,861 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CACAAGGGAAGGCTGACTCTTAG -3'
(R):5'- GTGTACCATCTGGCTCTGTAC -3'
Sequencing Primer
(F):5'- GAAGGCTGACTCTTAGGAAACTCTC -3'
(R):5'- TGGCTCTGTACATGTGAACAC -3'
|
Posted On |
2021-10-11 |