Incidental Mutation 'R0614:Axl'
| ID |
54942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axl
|
| Ensembl Gene |
ENSMUSG00000002602 |
| Gene Name |
AXL receptor tyrosine kinase |
| Synonyms |
Ark, Ufo, Tyro7 |
| MMRRC Submission |
038803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0614 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25473588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 346
(R346L)
|
| 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: R346L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: R346L
| 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: R346L
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: R346L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147680
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (61/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,340,782 (GRCm39) |
T137I |
probably benign |
Het |
| 3110082I17Rik |
C |
T |
5: 139,349,786 (GRCm39) |
V88I |
possibly damaging |
Het |
| 4930453N24Rik |
T |
A |
16: 64,586,977 (GRCm39) |
Q249L |
probably damaging |
Het |
| Ap1g2 |
C |
T |
14: 55,337,230 (GRCm39) |
V702I |
probably benign |
Het |
| Armcx5 |
G |
A |
X: 134,647,564 (GRCm39) |
E547K |
probably damaging |
Het |
| Asah2 |
C |
A |
19: 31,994,128 (GRCm39) |
V406L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,666,658 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,988,304 (GRCm39) |
R282* |
probably null |
Het |
| Card14 |
A |
G |
11: 119,213,653 (GRCm39) |
N200S |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,294,876 (GRCm39) |
T28A |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,812,017 (GRCm39) |
Q438* |
probably null |
Het |
| Dapk1 |
C |
A |
13: 60,865,946 (GRCm39) |
P181Q |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,961,394 (GRCm39) |
|
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,858,968 (GRCm39) |
|
probably null |
Het |
| Edc4 |
A |
T |
8: 106,616,028 (GRCm39) |
D801V |
possibly damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,676,430 (GRCm39) |
|
probably null |
Het |
| Eml2 |
T |
C |
7: 18,936,516 (GRCm39) |
L531P |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,400,676 (GRCm39) |
Y533C |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,877 (GRCm39) |
K1399E |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,782,987 (GRCm39) |
D446G |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,992,405 (GRCm39) |
N787K |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,871,715 (GRCm39) |
S18P |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,040 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,741,093 (GRCm39) |
D502E |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,354 (GRCm39) |
V570A |
probably damaging |
Het |
| Mga |
C |
G |
2: 119,794,947 (GRCm39) |
P2877R |
probably damaging |
Het |
| Mvd |
T |
C |
8: 123,163,292 (GRCm39) |
I313V |
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,773,739 (GRCm39) |
P270T |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,580,708 (GRCm39) |
V180L |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 165,218,536 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,705 (GRCm39) |
L56H |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,329 (GRCm39) |
I106F |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,929 (GRCm39) |
M59K |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,634,216 (GRCm39) |
P1420S |
probably benign |
Het |
| Pakap |
C |
A |
4: 57,856,720 (GRCm39) |
A926E |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,256,150 (GRCm39) |
V697M |
probably damaging |
Het |
| Plekha7 |
A |
T |
7: 115,753,880 (GRCm39) |
Y702* |
probably null |
Het |
| Plxnb3 |
A |
G |
X: 72,807,964 (GRCm39) |
|
probably benign |
Het |
| Ptgis |
A |
G |
2: 167,048,802 (GRCm39) |
F405L |
probably damaging |
Het |
| Ptprk |
C |
T |
10: 27,951,132 (GRCm39) |
P19L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,654,040 (GRCm39) |
V530A |
possibly damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,845,276 (GRCm39) |
Y299F |
probably damaging |
Het |
| Slc39a11 |
T |
A |
11: 113,414,452 (GRCm39) |
|
probably null |
Het |
| Slc6a15 |
T |
A |
10: 103,240,213 (GRCm39) |
L312* |
probably null |
Het |
| Slf1 |
T |
A |
13: 77,197,233 (GRCm39) |
M794L |
probably benign |
Het |
| Sntg2 |
G |
A |
12: 30,307,977 (GRCm39) |
T236I |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,726 (GRCm39) |
Y413C |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 75,959,127 (GRCm39) |
|
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,662,165 (GRCm39) |
N181K |
probably damaging |
Het |
| Tmem81 |
G |
A |
1: 132,435,469 (GRCm39) |
V92I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,878,615 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,735,482 (GRCm39) |
E905G |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 44,003,789 (GRCm39) |
R494* |
probably null |
Het |
| Vps13a |
G |
T |
19: 16,630,058 (GRCm39) |
R2692S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,675,171 (GRCm39) |
S2074P |
probably benign |
Het |
| Zfhx3 |
C |
G |
8: 109,675,599 (GRCm39) |
Y2216* |
probably null |
Het |
| Zfp423 |
A |
G |
8: 88,508,742 (GRCm39) |
F409S |
probably damaging |
Het |
| Zfp472 |
G |
A |
17: 33,196,908 (GRCm39) |
E328K |
possibly damaging |
Het |
| Zfp619 |
T |
A |
7: 39,187,099 (GRCm39) |
M1043K |
possibly damaging |
Het |
| Zfp940 |
T |
C |
7: 29,545,671 (GRCm39) |
I79V |
probably benign |
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 |
|
|
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 |
|
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'- GGTGCTGTTACAACGCTCACAGAC -3'
(R):5'- GGAGGAAGATACCATTGGGCTTTGC -3'
Sequencing Primer
(F):5'- TGGTACAACAGTATAGTAGTGCCC -3'
(R):5'- TGCTTCCGCTCATGGAAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation