Incidental Mutation 'R0497:Aatk'
ID 40556
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 038693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R0497 (G1)
Quality Score 143
Status Validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119909606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 110 (V110G)
Ref Sequence ENSEMBL: ENSMUSP00000067181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064307
AA Change: V110G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: V110G

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 damaging
Transcript: ENSMUST00000103019
AA Change: V53G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: V53G

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 damaging
Transcript: ENSMUST00000103020
AA Change: V53G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: V53G

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 noncoding transcript
Transcript: ENSMUST00000128836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134319
Meta Mutation Damage Score 0.2025 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 A C 15: 98,495,606 (GRCm39) probably null Het
Adm A G 7: 110,228,328 (GRCm39) T170A probably benign Het
Afap1l2 G T 19: 56,918,641 (GRCm39) N171K probably benign Het
Aph1b G T 9: 66,697,900 (GRCm39) S112* probably null Het
Arhgap23 A G 11: 97,342,989 (GRCm39) S424G probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Braf G A 6: 39,617,483 (GRCm39) probably benign Het
Brd2 C T 17: 34,333,334 (GRCm39) R47Q probably damaging Het
C2cd5 A G 6: 142,957,819 (GRCm39) V972A probably benign Het
Car9 T A 4: 43,511,881 (GRCm39) L300H probably damaging Het
Chmp3 T C 6: 71,529,395 (GRCm39) S20P probably damaging Het
Chp1 A G 2: 119,402,263 (GRCm39) N79S possibly damaging Het
Cnot2 A T 10: 116,334,260 (GRCm39) I335N probably damaging Het
Cntnap4 T C 8: 113,296,783 (GRCm39) V6A probably benign Het
Ctcf T A 8: 106,401,672 (GRCm39) probably benign Het
Dennd1b A G 1: 138,967,724 (GRCm39) probably benign Het
Dnmbp A G 19: 43,845,079 (GRCm39) probably benign Het
Eef2 T C 10: 81,017,420 (GRCm39) F782L probably benign Het
Eogt T A 6: 97,112,194 (GRCm39) Y153F probably benign Het
Fam81a G T 9: 70,003,401 (GRCm39) Q237K possibly damaging Het
Fat2 T A 11: 55,174,228 (GRCm39) T2162S probably benign Het
Fcgbpl1 T A 7: 27,846,890 (GRCm39) C1158S probably damaging Het
Gas6 T C 8: 13,520,387 (GRCm39) I434V possibly damaging Het
Gm42417 A T 1: 36,571,248 (GRCm39) L77Q probably damaging Het
Grik3 A T 4: 125,517,303 (GRCm39) N49Y possibly damaging Het
Gucy2e A T 11: 69,114,985 (GRCm39) V974E probably damaging Het
Helz2 A G 2: 180,871,449 (GRCm39) V2721A probably damaging Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt73 A G 15: 101,710,665 (GRCm39) L23P probably damaging Het
L3mbtl3 T C 10: 26,158,772 (GRCm39) probably benign Het
Lrrc15 A T 16: 30,091,710 (GRCm39) V543E probably damaging Het
Med13 G A 11: 86,167,809 (GRCm39) probably benign Het
Med25 T C 7: 44,541,524 (GRCm39) D60G probably damaging Het
Mgam T A 6: 40,641,826 (GRCm39) Y560N probably damaging Het
Mlkl A G 8: 112,054,505 (GRCm39) Y211H probably damaging Het
Msl2 A G 9: 100,978,493 (GRCm39) N289S probably benign Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Omt2b T C 9: 78,235,513 (GRCm39) probably benign Het
Or4k37 A G 2: 111,159,175 (GRCm39) D137G probably benign Het
Pald1 A G 10: 61,177,094 (GRCm39) L652P probably damaging Het
Pard3b T A 1: 62,479,167 (GRCm39) probably null Het
Prdm15 G A 16: 97,595,534 (GRCm39) T1098I possibly damaging Het
Rock2 A G 12: 17,004,954 (GRCm39) T436A probably benign Het
Sema4c A T 1: 36,588,689 (GRCm39) D812E probably benign Het
Sla A T 15: 66,664,098 (GRCm39) I91K probably benign Het
Slc22a16 T G 10: 40,460,963 (GRCm39) M255R probably damaging Het
Slc49a4 A T 16: 35,555,974 (GRCm39) V162D probably benign Het
Smg8 C T 11: 86,976,910 (GRCm39) D224N possibly damaging Het
Spdef A T 17: 27,937,032 (GRCm39) D190E probably benign Het
Taok1 A G 11: 77,464,630 (GRCm39) I152T probably damaging Het
Tmem220 A G 11: 66,916,748 (GRCm39) D36G probably damaging Het
Tmem235 A C 11: 117,755,177 (GRCm39) I210L probably benign Het
Tmem266 C T 9: 55,288,168 (GRCm39) probably null Het
Tmprss12 A G 15: 100,178,920 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Usp38 T A 8: 81,711,053 (GRCm39) probably benign Het
Usp44 C T 10: 93,682,668 (GRCm39) P373S possibly damaging Het
Vmn1r209 G T 13: 22,990,118 (GRCm39) Q191K probably damaging Het
Vmn1r70 T C 7: 10,367,953 (GRCm39) I147T probably benign Het
Vmn2r107 T A 17: 20,595,394 (GRCm39) I649N probably damaging Het
Vmn2r12 A T 5: 109,239,755 (GRCm39) Y269* probably null Het
Zan C T 5: 137,410,938 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,306 (GRCm39) V192L probably benign Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zgrf1 T C 3: 127,378,299 (GRCm39) probably benign Het
Zhx3 A T 2: 160,621,914 (GRCm39) L751* probably null Het
Znfx1 T A 2: 166,897,331 (GRCm39) Q531L probably benign Het
Other mutations in Aatk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Aatk APN 11 119,901,012 (GRCm39) missense probably benign 0.02
IGL00953:Aatk APN 11 119,902,047 (GRCm39) missense probably benign 0.00
IGL01019:Aatk APN 11 119,903,101 (GRCm39) missense probably benign
IGL01758:Aatk APN 11 119,901,645 (GRCm39) missense possibly damaging 0.86
IGL02377:Aatk APN 11 119,937,689 (GRCm39) utr 5 prime probably benign
IGL02902:Aatk APN 11 119,902,603 (GRCm39) missense probably benign 0.00
IGL03067:Aatk APN 11 119,900,909 (GRCm39) missense probably benign 0.00
IGL03116:Aatk APN 11 119,907,577 (GRCm39) missense probably benign 0.14
IGL03279:Aatk APN 11 119,904,504 (GRCm39) missense probably damaging 1.00
IGL03405:Aatk APN 11 119,907,229 (GRCm39) missense probably benign 0.02
PIT4366001:Aatk UTSW 11 119,901,786 (GRCm39) missense possibly damaging 0.55
PIT4802001:Aatk UTSW 11 119,902,172 (GRCm39) missense probably benign
R0101:Aatk UTSW 11 119,901,739 (GRCm39) missense probably benign 0.19
R0535:Aatk UTSW 11 119,901,019 (GRCm39) missense probably benign 0.00
R0638:Aatk UTSW 11 119,900,748 (GRCm39) missense probably damaging 1.00
R0939:Aatk UTSW 11 119,902,969 (GRCm39) missense probably damaging 0.99
R1475:Aatk UTSW 11 119,901,714 (GRCm39) missense probably damaging 0.96
R1840:Aatk UTSW 11 119,904,558 (GRCm39) missense probably damaging 1.00
R1865:Aatk UTSW 11 119,901,048 (GRCm39) missense probably benign 0.00
R1982:Aatk UTSW 11 119,904,340 (GRCm39) missense probably damaging 1.00
R2027:Aatk UTSW 11 119,900,143 (GRCm39) missense probably damaging 1.00
R2115:Aatk UTSW 11 119,900,562 (GRCm39) missense probably benign
R2220:Aatk UTSW 11 119,903,003 (GRCm39) missense probably damaging 1.00
R2264:Aatk UTSW 11 119,901,100 (GRCm39) missense probably damaging 1.00
R2504:Aatk UTSW 11 119,909,681 (GRCm39) missense probably benign 0.00
R3872:Aatk UTSW 11 119,901,045 (GRCm39) missense possibly damaging 0.71
R4551:Aatk UTSW 11 119,902,395 (GRCm39) missense probably benign 0.03
R4657:Aatk UTSW 11 119,904,304 (GRCm39) missense possibly damaging 0.69
R4744:Aatk UTSW 11 119,906,948 (GRCm39) missense possibly damaging 0.64
R4924:Aatk UTSW 11 119,902,351 (GRCm39) missense probably damaging 1.00
R5063:Aatk UTSW 11 119,901,315 (GRCm39) missense probably benign 0.07
R5223:Aatk UTSW 11 119,904,278 (GRCm39) missense possibly damaging 0.95
R5243:Aatk UTSW 11 119,907,594 (GRCm39) missense probably damaging 1.00
R5376:Aatk UTSW 11 119,902,860 (GRCm39) missense probably damaging 0.98
R5442:Aatk UTSW 11 119,909,594 (GRCm39) missense probably benign 0.02
R5550:Aatk UTSW 11 119,900,129 (GRCm39) missense probably benign 0.42
R5678:Aatk UTSW 11 119,900,980 (GRCm39) missense probably benign 0.00
R5932:Aatk UTSW 11 119,912,359 (GRCm39) missense probably damaging 1.00
R6026:Aatk UTSW 11 119,903,190 (GRCm39) missense possibly damaging 0.65
R6129:Aatk UTSW 11 119,912,359 (GRCm39) missense probably damaging 1.00
R6409:Aatk UTSW 11 119,902,558 (GRCm39) missense probably benign 0.01
R6477:Aatk UTSW 11 119,909,696 (GRCm39) missense probably benign 0.00
R6478:Aatk UTSW 11 119,901,817 (GRCm39) missense probably benign 0.00
R6749:Aatk UTSW 11 119,901,600 (GRCm39) missense possibly damaging 0.58
R6753:Aatk UTSW 11 119,900,977 (GRCm39) missense probably benign
R6787:Aatk UTSW 11 119,901,508 (GRCm39) missense probably damaging 1.00
R6852:Aatk UTSW 11 119,901,294 (GRCm39) missense probably benign 0.10
R7114:Aatk UTSW 11 119,900,445 (GRCm39) missense probably benign
R7557:Aatk UTSW 11 119,900,256 (GRCm39) missense possibly damaging 0.73
R7818:Aatk UTSW 11 119,912,281 (GRCm39) missense probably benign
R7954:Aatk UTSW 11 119,903,169 (GRCm39) missense possibly damaging 0.51
R8176:Aatk UTSW 11 119,907,241 (GRCm39) missense probably damaging 0.99
R8420:Aatk UTSW 11 119,937,746 (GRCm39) missense unknown
R8963:Aatk UTSW 11 119,902,963 (GRCm39) missense probably damaging 1.00
R9090:Aatk UTSW 11 119,901,940 (GRCm39) missense probably damaging 0.98
R9167:Aatk UTSW 11 119,901,952 (GRCm39) missense possibly damaging 0.90
R9271:Aatk UTSW 11 119,901,940 (GRCm39) missense probably damaging 0.98
R9357:Aatk UTSW 11 119,901,696 (GRCm39) missense probably benign 0.01
R9373:Aatk UTSW 11 119,906,343 (GRCm39) missense possibly damaging 0.95
R9420:Aatk UTSW 11 119,912,277 (GRCm39) missense probably benign 0.01
R9423:Aatk UTSW 11 119,901,520 (GRCm39) missense probably damaging 1.00
R9476:Aatk UTSW 11 119,901,094 (GRCm39) missense probably benign 0.01
R9510:Aatk UTSW 11 119,901,094 (GRCm39) missense probably benign 0.01
R9519:Aatk UTSW 11 119,912,309 (GRCm39) start gained probably benign
R9605:Aatk UTSW 11 119,902,209 (GRCm39) missense possibly damaging 0.88
R9649:Aatk UTSW 11 119,901,733 (GRCm39) missense probably damaging 1.00
R9766:Aatk UTSW 11 119,902,565 (GRCm39) missense probably benign 0.00
X0064:Aatk UTSW 11 119,902,002 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GCGACAGACAAGGCTACTCTCAAG -3'
(R):5'- CTTTAGCCCTTCTCCAAGCAGGAC -3'

Sequencing Primer
(F):5'- AAGGCTACTCTCAAGCCTGG -3'
(R):5'- AAGCAGGACTCAGCCTTGG -3'
Posted On 2013-05-23