Incidental Mutation 'R7172:Axl'
ID |
558343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axl
|
Ensembl Gene |
ENSMUSG00000002602 |
Gene Name |
AXL receptor tyrosine kinase |
Synonyms |
Ark, Ufo, Tyro7 |
MMRRC Submission |
045264-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7172 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25456698-25488130 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25486399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 102
(Q102K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002677]
[ENSMUST00000085948]
|
AlphaFold |
Q00993 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002677
AA Change: Q102K
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000002677 Gene: ENSMUSG00000002602 AA Change: Q102K
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: Q102K
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000083110 Gene: ENSMUSG00000002602 AA Change: Q102K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (74/74) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
Gps2 |
C |
T |
11: 69,807,262 (GRCm39) |
T306I |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
Myo1d |
C |
T |
11: 80,483,621 (GRCm39) |
V863I |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
Pam |
A |
T |
1: 97,762,203 (GRCm39) |
D793E |
probably benign |
Het |
Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
Rgsl1 |
A |
C |
1: 153,701,966 (GRCm39) |
W163G |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,981,390 (GRCm39) |
M686V |
probably damaging |
Het |
Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
probably null |
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 |
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'- CTACCAAGATTCCCTAAGTCTCTGG -3'
(R):5'- AGGGAGCTCCATACACACAG -3'
Sequencing Primer
(F):5'- ATAAGCTCTGACCCGAGA -3'
(R):5'- GTTGGGAATCTCCACCTGAC -3'
|
Posted On |
2019-06-26 |