Incidental Mutation 'R8546:Axl'
| ID |
659632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| MMRRC Submission |
068511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8546 (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 T
at 25473588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 346
(R346H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
| AlphaFold |
Q00993 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002677
AA Change: R346H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: R346H
| 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
AA Change: R346H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: R346H
| 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: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,064,139 (GRCm39) |
S416P |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,236,769 (GRCm39) |
A214E |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,901,083 (GRCm39) |
W971R |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,630,397 (GRCm39) |
N399S |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,101 (GRCm39) |
D532G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,769 (GRCm39) |
|
probably benign |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,687 (GRCm39) |
R77G |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,158 (GRCm39) |
S625C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,380,099 (GRCm39) |
|
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,206,102 (GRCm39) |
L281P |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,759 (GRCm39) |
|
probably null |
Het |
| Cyb5rl |
T |
A |
4: 106,925,923 (GRCm39) |
V35D |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,015,101 (GRCm39) |
F381S |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,755,208 (GRCm39) |
N991K |
unknown |
Het |
| Eif6 |
A |
G |
2: 155,668,420 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
T |
C |
17: 25,069,057 (GRCm39) |
M7V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,685,795 (GRCm39) |
T160A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,857,825 (GRCm39) |
V2040I |
probably benign |
Het |
| Gjc2 |
G |
T |
11: 59,067,182 (GRCm39) |
D433E |
unknown |
Het |
| H2bc13 |
G |
A |
13: 21,900,042 (GRCm39) |
T91M |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,264 (GRCm39) |
R377S |
probably benign |
Het |
| Khnyn |
A |
G |
14: 56,123,275 (GRCm39) |
T10A |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,686,242 (GRCm39) |
H389L |
probably damaging |
Het |
| Lin7c |
A |
G |
2: 109,726,716 (GRCm39) |
I122V |
probably null |
Het |
| Lonp1 |
G |
A |
17: 56,933,702 (GRCm39) |
P58S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,027 (GRCm39) |
H142R |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,022,399 (GRCm39) |
N196K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,201 (GRCm39) |
E712G |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,314,419 (GRCm39) |
T465I |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,685 (GRCm39) |
T77S |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,484,841 (GRCm39) |
E340G |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,325,634 (GRCm39) |
S490R |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,393,615 (GRCm39) |
S1981N |
possibly damaging |
Het |
| Poll |
T |
A |
19: 45,546,416 (GRCm39) |
D208V |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,374,284 (GRCm39) |
D64G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,480,899 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prmt6 |
C |
T |
3: 110,158,034 (GRCm39) |
R85Q |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,899,156 (GRCm39) |
K140R |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,124 (GRCm39) |
T61A |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,049,570 (GRCm39) |
D795G |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,235 (GRCm39) |
M472L |
probably benign |
Het |
| Tekt5 |
A |
G |
16: 10,175,877 (GRCm39) |
V556A |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,084,374 (GRCm39) |
I68F |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,498,444 (GRCm39) |
N798K |
probably benign |
Het |
| Tuft1 |
T |
A |
3: 94,529,420 (GRCm39) |
E227D |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,710 (GRCm39) |
K146R |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,259,326 (GRCm39) |
A1616T |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,974,607 (GRCm39) |
K452N |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,697 (GRCm39) |
H244Q |
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 |
|
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'- GCCCGGTTTTCATAATTGCC -3'
(R):5'- CCCACAATGGCCTTAGTCTC -3'
Sequencing Primer
(F):5'- CGGTTTTCATAATTGCCTGCATC -3'
(R):5'- TCATGGAAGGCCTGCACGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation