Incidental Mutation 'IGL01357:Axl'
ID 75554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Axl
Ensembl Gene ENSMUSG00000002602
Gene Name AXL receptor tyrosine kinase
Synonyms Ark, Ufo, Tyro7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01357
Quality Score
Status
Chromosome 7
Chromosomal Location 25456698-25488130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25473594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 344 (L344P)
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: L344P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: L344P

DomainStartEndE-ValueType
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: L344P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: L344P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 125,366,072 (GRCm39) V224F probably damaging Het
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mal C A 2: 127,482,234 (GRCm39) M56I probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nxt1 A G 2: 148,517,316 (GRCm39) E19G probably damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in Axl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-10-07