Incidental Mutation 'IGL02902:Aatk'
ID363663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Nameapoptosis-associated tyrosine kinase
SynonymsAATYK1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #IGL02902
Quality Score
Status
Chromosome11
Chromosomal Location120007313-120047167 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120011777 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 541 (T541A)
Ref Sequence ENSEMBL: ENSMUSP00000099309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026436] [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020] [ENSMUST00000106233]
Predicted Effect probably benign
Transcript: ENSMUST00000026436
SMART Domains Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372

DomainStartEndE-ValueType
Pfam:IMD 17 237 6e-101 PFAM
PDB:4JS0|B 261 292 2e-13 PDB
low complexity region 321 335 N/A INTRINSIC
SH3 378 437 9.77e-11 SMART
low complexity region 459 471 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064307
AA Change: T598A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: T598A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 30 49 N/A INTRINSIC
Pfam:Pkinase_Tyr 135 405 3.9e-63 PFAM
Pfam:Pkinase 136 404 2.6e-33 PFAM
low complexity region 425 457 N/A INTRINSIC
low complexity region 502 514 N/A INTRINSIC
low complexity region 615 624 N/A INTRINSIC
low complexity region 647 666 N/A INTRINSIC
low complexity region 684 695 N/A INTRINSIC
low complexity region 808 819 N/A INTRINSIC
low complexity region 913 927 N/A INTRINSIC
low complexity region 934 943 N/A INTRINSIC
low complexity region 985 1004 N/A INTRINSIC
low complexity region 1063 1082 N/A INTRINSIC
low complexity region 1085 1096 N/A INTRINSIC
low complexity region 1160 1174 N/A INTRINSIC
low complexity region 1179 1204 N/A INTRINSIC
low complexity region 1319 1333 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083666
Predicted Effect probably benign
Transcript: ENSMUST00000103019
AA Change: T541A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: T541A

DomainStartEndE-ValueType
Pfam:Pkinase 78 347 3e-36 PFAM
Pfam:Pkinase_Tyr 78 348 1.9e-62 PFAM
low complexity region 368 400 N/A INTRINSIC
low complexity region 445 457 N/A INTRINSIC
low complexity region 558 567 N/A INTRINSIC
low complexity region 590 609 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 751 762 N/A INTRINSIC
low complexity region 856 870 N/A INTRINSIC
low complexity region 877 886 N/A INTRINSIC
low complexity region 928 947 N/A INTRINSIC
low complexity region 1006 1025 N/A INTRINSIC
low complexity region 1028 1039 N/A INTRINSIC
low complexity region 1103 1117 N/A INTRINSIC
low complexity region 1122 1147 N/A INTRINSIC
low complexity region 1262 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103020
AA Change: T541A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: T541A

DomainStartEndE-ValueType
Pfam:Pkinase 78 347 3e-36 PFAM
Pfam:Pkinase_Tyr 78 348 1.9e-62 PFAM
low complexity region 368 400 N/A INTRINSIC
low complexity region 445 457 N/A INTRINSIC
low complexity region 558 567 N/A INTRINSIC
low complexity region 590 609 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 751 762 N/A INTRINSIC
low complexity region 856 870 N/A INTRINSIC
low complexity region 877 886 N/A INTRINSIC
low complexity region 928 947 N/A INTRINSIC
low complexity region 1006 1025 N/A INTRINSIC
low complexity region 1028 1039 N/A INTRINSIC
low complexity region 1103 1117 N/A INTRINSIC
low complexity region 1122 1147 N/A INTRINSIC
low complexity region 1262 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106233
SMART Domains Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372

DomainStartEndE-ValueType
Pfam:IMD 17 237 1.6e-98 PFAM
PDB:4JS0|B 261 292 8e-14 PDB
low complexity region 321 335 N/A INTRINSIC
SH3 378 437 9.77e-11 SMART
low complexity region 459 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
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 contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 86,046,365 V135F possibly damaging Het
Abcc1 T C 16: 14,423,127 L516P probably damaging Het
Actl6a T A 3: 32,722,642 V350E possibly damaging Het
Afm A G 5: 90,526,363 K245E possibly damaging Het
Agr3 T C 12: 35,946,916 V63A probably damaging Het
Arhgef28 A T 13: 97,946,875 M1162K probably damaging Het
BC003331 C A 1: 150,384,428 probably null Het
Casq2 T A 3: 102,086,797 C53* probably null Het
Ccdc181 T C 1: 164,279,901 V51A probably benign Het
Cd101 A G 3: 101,018,994 probably benign Het
Csdc2 T C 15: 81,948,600 V69A probably benign Het
Cyp2c23 A T 19: 44,021,558 probably benign Het
Dnph1 A G 17: 46,498,501 probably benign Het
Egf T C 3: 129,681,147 T1124A probably benign Het
Gm13089 A G 4: 143,698,343 C177R probably damaging Het
Gpr45 A G 1: 43,033,211 E338G possibly damaging Het
Grb14 A C 2: 64,938,418 L98R probably damaging Het
Gucy1a1 T C 3: 82,118,917 S77G possibly damaging Het
Helb A G 10: 120,089,485 S996P probably benign Het
Huwe1 A G X: 151,886,766 E1405G probably damaging Het
Ifi47 T C 11: 49,095,790 I128T probably benign Het
Ift140 T A 17: 25,090,762 Y1089N probably damaging Het
Il1r1 A T 1: 40,302,409 H324L probably benign Het
Irx1 C T 13: 71,959,855 R236H probably benign Het
Itpr3 T C 17: 27,104,556 V1185A probably benign Het
Kif19a T C 11: 114,785,570 V450A possibly damaging Het
Krtap21-1 G T 16: 89,403,558 Y65* probably null Het
Ltn1 A T 16: 87,379,805 N1704K possibly damaging Het
Med1 T C 11: 98,156,509 probably benign Het
Meis2 T A 2: 116,063,323 H36L probably damaging Het
Mier2 T C 10: 79,549,622 N124S probably damaging Het
Mmp20 A G 9: 7,654,170 probably null Het
Muc4 A G 16: 32,750,394 T91A possibly damaging Het
Myo3b T A 2: 70,289,401 V935E probably benign Het
Ndufa7 T C 17: 33,829,658 probably benign Het
Nipal1 A G 5: 72,668,062 E366G possibly damaging Het
Nobox A T 6: 43,305,683 N263K probably benign Het
Notch2 A G 3: 98,111,574 D684G probably damaging Het
Olfr1136 T C 2: 87,693,000 N294S probably damaging Het
Olfr1255 T A 2: 89,817,164 Y273* probably null Het
Olfr303 T C 7: 86,394,535 probably benign Het
Olfr31 A G 14: 14,328,789 H226R probably benign Het
Olfr494 C A 7: 108,368,129 T213K probably damaging Het
Plau A C 14: 20,839,897 D270A possibly damaging Het
Pof1b T C X: 112,649,112 probably null Het
Prtn3 A T 10: 79,881,933 probably null Het
Ptges3 T A 10: 128,068,747 D26E probably benign Het
Pxmp2 T C 5: 110,281,294 E99G probably benign Het
Rasgef1a A G 6: 118,083,107 R106G probably benign Het
Rnf208 T C 2: 25,243,762 V156A probably benign Het
Rps6ka1 A T 4: 133,871,981 I45N possibly damaging Het
Rps6ka4 C T 19: 6,832,255 probably null Het
Rsbn1 G T 3: 103,953,656 C466F possibly damaging Het
Shkbp1 A T 7: 27,342,716 C605S probably damaging Het
Slc2a10 G A 2: 165,518,222 D531N probably benign Het
Sox13 A G 1: 133,389,466 L143P probably damaging Het
Stx2 C T 5: 128,992,221 R142Q probably damaging Het
Tanc1 T A 2: 59,793,087 probably benign Het
Ttc26 A C 6: 38,425,162 S530R probably benign Het
Tubgcp5 C T 7: 55,806,607 Q316* probably null Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unc5d G A 8: 28,875,606 T117I probably damaging Het
Vmn2r4 T C 3: 64,406,916 I126V probably benign Het
Zfp410 T A 12: 84,331,820 probably null Het
Other mutations in Aatk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Aatk APN 11 120010186 missense probably benign 0.02
IGL00953:Aatk APN 11 120011221 missense probably benign 0.00
IGL01019:Aatk APN 11 120012275 missense probably benign
IGL01758:Aatk APN 11 120010819 missense possibly damaging 0.86
IGL02377:Aatk APN 11 120046863 utr 5 prime probably benign
IGL03067:Aatk APN 11 120010083 missense probably benign 0.00
IGL03116:Aatk APN 11 120016751 missense probably benign 0.14
IGL03279:Aatk APN 11 120013678 missense probably damaging 1.00
IGL03405:Aatk APN 11 120016403 missense probably benign 0.02
PIT4366001:Aatk UTSW 11 120010960 missense possibly damaging 0.55
PIT4802001:Aatk UTSW 11 120011346 missense probably benign
R0101:Aatk UTSW 11 120010913 missense probably benign 0.19
R0497:Aatk UTSW 11 120018780 missense probably damaging 0.99
R0535:Aatk UTSW 11 120010193 missense probably benign 0.00
R0638:Aatk UTSW 11 120009922 missense probably damaging 1.00
R0939:Aatk UTSW 11 120012143 missense probably damaging 0.99
R1475:Aatk UTSW 11 120010888 missense probably damaging 0.96
R1840:Aatk UTSW 11 120013732 missense probably damaging 1.00
R1865:Aatk UTSW 11 120010222 missense probably benign 0.00
R1982:Aatk UTSW 11 120013514 missense probably damaging 1.00
R2027:Aatk UTSW 11 120009317 missense probably damaging 1.00
R2115:Aatk UTSW 11 120009736 missense probably benign
R2220:Aatk UTSW 11 120012177 missense probably damaging 1.00
R2264:Aatk UTSW 11 120010274 missense probably damaging 1.00
R2504:Aatk UTSW 11 120018855 missense probably benign 0.00
R3872:Aatk UTSW 11 120010219 missense possibly damaging 0.71
R4551:Aatk UTSW 11 120011569 missense probably benign 0.03
R4657:Aatk UTSW 11 120013478 missense possibly damaging 0.69
R4744:Aatk UTSW 11 120016122 missense possibly damaging 0.64
R4924:Aatk UTSW 11 120011525 missense probably damaging 1.00
R5063:Aatk UTSW 11 120010489 missense probably benign 0.07
R5223:Aatk UTSW 11 120013452 missense possibly damaging 0.95
R5243:Aatk UTSW 11 120016768 missense probably damaging 1.00
R5376:Aatk UTSW 11 120012034 missense probably damaging 0.98
R5442:Aatk UTSW 11 120018768 missense probably benign 0.02
R5550:Aatk UTSW 11 120009303 missense probably benign 0.42
R5678:Aatk UTSW 11 120010154 missense probably benign 0.00
R5932:Aatk UTSW 11 120021533 missense probably damaging 1.00
R6026:Aatk UTSW 11 120012364 missense possibly damaging 0.65
R6129:Aatk UTSW 11 120021533 missense probably damaging 1.00
R6409:Aatk UTSW 11 120011732 missense probably benign 0.01
R6477:Aatk UTSW 11 120018870 missense probably benign 0.00
R6478:Aatk UTSW 11 120010991 missense probably benign 0.00
R6749:Aatk UTSW 11 120010774 missense possibly damaging 0.58
R6753:Aatk UTSW 11 120010151 missense probably benign
R6787:Aatk UTSW 11 120010682 missense probably damaging 1.00
R6852:Aatk UTSW 11 120010468 missense probably benign 0.10
R7114:Aatk UTSW 11 120009619 missense probably benign
R7557:Aatk UTSW 11 120009430 missense possibly damaging 0.73
R7818:Aatk UTSW 11 120021455 missense probably benign
X0064:Aatk UTSW 11 120011176 unclassified probably null
Posted On2015-12-18