Incidental Mutation 'R9179:Axl'
ID |
696893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9179 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25469658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 502
(T502A)
|
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: T502A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: T502A
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: T493A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: T493A
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 |
|
SMART Domains |
Protein: ENSMUSP00000114907 Gene: ENSMUSG00000002602 AA Change: T125A
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (54/55) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
A |
6: 124,333,882 (GRCm39) |
M33L |
probably benign |
Het |
2310003L06Rik |
A |
G |
5: 88,119,890 (GRCm39) |
T216A |
probably benign |
Het |
9330161L09Rik |
A |
C |
12: 103,373,837 (GRCm39) |
C12G |
unknown |
Het |
Ahdc1 |
T |
A |
4: 132,788,929 (GRCm39) |
F57I |
possibly damaging |
Het |
Amotl1 |
C |
A |
9: 14,461,787 (GRCm39) |
A809S |
possibly damaging |
Het |
Ankfn1 |
C |
T |
11: 89,414,011 (GRCm39) |
M121I |
probably benign |
Het |
Aspm |
A |
G |
1: 139,404,453 (GRCm39) |
D1261G |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Ccdc102a |
A |
G |
8: 95,639,748 (GRCm39) |
V182A |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,153,664 (GRCm39) |
A2309T |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,676,064 (GRCm39) |
N210K |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,500,054 (GRCm39) |
S147P |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,600,912 (GRCm39) |
S752P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,642,654 (GRCm39) |
M235K |
probably benign |
Het |
Cyp4f15 |
A |
G |
17: 32,919,185 (GRCm39) |
D336G |
possibly damaging |
Het |
Dagla |
A |
G |
19: 10,228,525 (GRCm39) |
I631T |
possibly damaging |
Het |
Dph6 |
C |
T |
2: 114,353,591 (GRCm39) |
C199Y |
probably damaging |
Het |
Ermard |
T |
A |
17: 15,273,495 (GRCm39) |
L360Q |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,708 (GRCm39) |
T190A |
probably benign |
Het |
Fgfr3 |
G |
T |
5: 33,887,316 (GRCm39) |
V212L |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,887,541 (GRCm38) |
C450* |
probably null |
Het |
Gls |
T |
C |
1: 52,239,015 (GRCm39) |
Y362C |
probably damaging |
Het |
Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
Gns |
T |
C |
10: 121,216,080 (GRCm39) |
F276L |
|
Het |
Grin2d |
A |
G |
7: 45,506,176 (GRCm39) |
S572P |
probably damaging |
Het |
Impa2 |
C |
T |
18: 67,422,473 (GRCm39) |
|
probably benign |
Het |
Itgal |
A |
T |
7: 126,905,883 (GRCm39) |
D355V |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,297,521 (GRCm39) |
|
probably null |
Het |
Klk1b1 |
T |
A |
7: 43,618,715 (GRCm39) |
C31S |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,277,312 (GRCm39) |
V354E |
probably benign |
Het |
Mettl21c |
T |
A |
1: 44,049,142 (GRCm39) |
Y135F |
probably benign |
Het |
Mocs1 |
A |
G |
17: 49,740,303 (GRCm39) |
T77A |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,209,274 (GRCm39) |
N30D |
probably benign |
Het |
Or1j11 |
T |
C |
2: 36,312,126 (GRCm39) |
S239P |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,358,494 (GRCm39) |
K87* |
probably null |
Het |
Otog |
C |
A |
7: 45,937,885 (GRCm39) |
P1865T |
possibly damaging |
Het |
Pabpc1l |
T |
C |
2: 163,873,140 (GRCm39) |
S137P |
probably damaging |
Het |
Pilrb1 |
C |
A |
5: 137,855,657 (GRCm39) |
W78L |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,214,085 (GRCm39) |
Y832C |
possibly damaging |
Het |
Ppan |
C |
A |
9: 20,803,199 (GRCm39) |
Q424K |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,087,782 (GRCm39) |
N544K |
probably damaging |
Het |
Pramel16 |
T |
C |
4: 143,676,294 (GRCm39) |
E270G |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,961,155 (GRCm39) |
D246G |
possibly damaging |
Het |
Rasef |
G |
A |
4: 73,662,356 (GRCm39) |
T198I |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,463 (GRCm39) |
H603R |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,482,490 (GRCm39) |
R179G |
probably damaging |
Het |
Scel |
T |
C |
14: 103,811,836 (GRCm39) |
L288P |
possibly damaging |
Het |
Sel1l |
A |
T |
12: 91,778,726 (GRCm39) |
D696E |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,689,482 (GRCm39) |
K416R |
possibly damaging |
Het |
Tmem132b |
A |
T |
5: 125,700,115 (GRCm39) |
M218L |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,791,881 (GRCm39) |
S1800P |
probably benign |
Het |
Tpcn1 |
A |
C |
5: 120,680,015 (GRCm39) |
L576R |
probably damaging |
Het |
Vmn2r34 |
T |
G |
7: 7,675,723 (GRCm39) |
Q555P |
possibly damaging |
Het |
Vwa8 |
C |
T |
14: 79,335,801 (GRCm39) |
T1419I |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,855,081 (GRCm39) |
Y14H |
probably benign |
Het |
Zfp1007 |
A |
G |
5: 109,823,708 (GRCm39) |
C581R |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,382,376 (GRCm39) |
D241E |
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 |
|
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 |
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 |
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'- TGCTGAGAATGCACAACACC -3'
(R):5'- GTGCTAATTCCAGATGTGCTC -3'
Sequencing Primer
(F):5'- AACACCCTATCGTCTACTGTTCTAAG -3'
(R):5'- TGCTCAGCATGCACTGAAG -3'
|
Posted On |
2022-02-07 |