Incidental Mutation 'R5039:Axl'
| ID |
395699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| MMRRC Submission |
042629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25485340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 163
(V163M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
| AlphaFold |
Q00993 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002677
AA Change: V163M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: V163M
| 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: V163M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: V163M
| 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 |
noncoding transcript
Transcript: ENSMUST00000132989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147680
|
| Meta Mutation Damage Score |
0.2943 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
A |
9: 44,192,863 (GRCm39) |
A161V |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,164,808 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,961 (GRCm39) |
D396G |
probably benign |
Het |
| Ark2c |
A |
G |
18: 77,550,608 (GRCm39) |
S107P |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,155,621 (GRCm39) |
P353S |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,968,162 (GRCm39) |
Y1116H |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,306,514 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,890,429 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ctr9 |
C |
A |
7: 110,642,064 (GRCm39) |
H297Q |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,734 (GRCm39) |
|
probably null |
Het |
| Dock4 |
C |
A |
12: 40,867,745 (GRCm39) |
N1440K |
probably damaging |
Het |
| Etnk1 |
T |
A |
6: 143,141,043 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,063,726 (GRCm39) |
|
probably null |
Het |
| Fanca |
T |
C |
8: 124,010,785 (GRCm39) |
D908G |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3633 |
A |
C |
14: 42,461,161 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr139 |
A |
G |
7: 118,744,165 (GRCm39) |
V140A |
probably benign |
Het |
| Ighv1-62-3 |
G |
T |
12: 115,425,014 (GRCm39) |
T13K |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,226,205 (GRCm39) |
T629A |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,779,724 (GRCm39) |
S199P |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,230,962 (GRCm39) |
G663D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,888 (GRCm39) |
D407G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,405,013 (GRCm39) |
K391R |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,013,107 (GRCm39) |
S127T |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,477,955 (GRCm39) |
D1759V |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,616 (GRCm39) |
D447G |
probably damaging |
Het |
| Ndufb7 |
A |
G |
8: 84,298,094 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
A |
9: 88,245,634 (GRCm39) |
N301K |
probably benign |
Het |
| Or10d4b |
A |
T |
9: 39,534,856 (GRCm39) |
T146S |
possibly damaging |
Het |
| Or8g27 |
T |
A |
9: 39,129,410 (GRCm39) |
Y252* |
probably null |
Het |
| Pcdh10 |
A |
G |
3: 45,336,296 (GRCm39) |
N870S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,709,305 (GRCm39) |
V670A |
probably benign |
Het |
| Phf8-ps |
A |
C |
17: 33,286,734 (GRCm39) |
C23G |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
G |
C |
7: 108,637,930 (GRCm39) |
S274R |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,031,195 (GRCm39) |
T1540A |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,268,805 (GRCm39) |
M1464L |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,399 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ssb |
A |
T |
2: 69,696,581 (GRCm39) |
E38D |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,709,292 (GRCm39) |
I16N |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,878 (GRCm39) |
T973A |
probably damaging |
Het |
| Tial1 |
T |
C |
7: 128,045,692 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,675 (GRCm39) |
T89A |
possibly damaging |
Het |
| Trpv5 |
T |
C |
6: 41,652,879 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,267 (GRCm39) |
S265T |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,089,013 (GRCm39) |
D1006G |
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 |
|
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 |
|
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'- GGGTGAACAGAGGCACACAC -3'
(R):5'- TTAGCACCTCCAACATCCTAATGA -3'
Sequencing Primer
(F):5'- GGCACACACACAGAAGTAGTG -3'
(R):5'- CATCCTAATGATAATCTGGGGGCC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation