Incidental Mutation 'R5223:Aatk'
ID 402450
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 042796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5223 (G1)
Quality Score 125
Status Not validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119904278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 273 (V273M)
Ref Sequence ENSEMBL: ENSMUSP00000099309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000064307
AA Change: V330M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: V330M

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 possibly damaging
Transcript: ENSMUST00000103019
AA Change: V273M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: V273M

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 possibly damaging
Transcript: ENSMUST00000103020
AA Change: V273M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: V273M

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: 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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 CCGC CC 14: 54,880,398 (GRCm39) probably null Het
Acvr1b T A 15: 101,091,857 (GRCm39) C46S probably damaging Het
Ahi1 A T 10: 20,846,818 (GRCm39) H416L possibly damaging Het
Aspm T A 1: 139,406,072 (GRCm39) L1653Q probably damaging Het
Cacna1a G A 8: 85,313,824 (GRCm39) V1533M possibly damaging Het
Ccdc33 C T 9: 57,940,267 (GRCm39) E502K possibly damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Cyp2a12 A T 7: 26,735,888 (GRCm39) probably null Het
Dnai4 T A 4: 102,906,600 (GRCm39) S738C possibly damaging Het
Ep400 A G 5: 110,816,496 (GRCm39) V2675A probably damaging Het
Foxh1 T A 15: 76,552,929 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gpnmb C T 6: 49,033,139 (GRCm39) T539M probably benign Het
Hdac1-ps A G 17: 78,799,867 (GRCm39) E286G probably benign Het
Hspa9 A G 18: 35,085,724 (GRCm39) probably null Het
Hspg2 T C 4: 137,271,225 (GRCm39) L2454P probably damaging Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Igkv6-32 T C 6: 70,051,207 (GRCm39) S50G probably benign Het
Il23r T A 6: 67,463,154 (GRCm39) Y113F probably benign Het
Kcnt1 A G 2: 25,793,434 (GRCm39) D636G probably benign Het
Klhl41 G A 2: 69,510,171 (GRCm39) W569* probably null Het
Klra4 T A 6: 130,039,110 (GRCm39) D94V probably damaging Het
Lca5 T A 9: 83,280,666 (GRCm39) H378L probably benign Het
Lhx8 T A 3: 154,027,281 (GRCm39) T254S probably damaging Het
Lrch3 C T 16: 32,734,767 (GRCm39) R86W probably damaging Het
Lrp2 T A 2: 69,354,397 (GRCm39) N477I probably damaging Het
Man2a1 T A 17: 65,019,266 (GRCm39) I710K probably benign Het
Ncor1 A T 11: 62,229,826 (GRCm39) Y881N probably damaging Het
Nhsl1 T A 10: 18,402,074 (GRCm39) V1100E probably damaging Het
Oprk1 T C 1: 5,659,519 (GRCm39) V83A probably benign Het
Or4p8 T C 2: 88,727,678 (GRCm39) T88A probably benign Het
Or5p62 A G 7: 107,771,915 (GRCm39) V12A probably benign Het
Or7g35 T C 9: 19,496,322 (GRCm39) V163A probably benign Het
Pacs1 C T 19: 5,195,169 (GRCm39) V472I probably benign Het
Pard3b T C 1: 62,383,272 (GRCm39) Y789H probably damaging Het
Pcdha2 T C 18: 37,073,844 (GRCm39) Y492H probably damaging Het
Pcnt T C 10: 76,216,106 (GRCm39) N2261D probably damaging Het
Pex5l A T 3: 33,012,945 (GRCm39) S15T probably damaging Het
Plekhg4 A G 8: 106,105,581 (GRCm39) N682S probably benign Het
Poc5 A T 13: 96,539,463 (GRCm39) M335L probably benign Het
Polr1a C T 6: 71,944,891 (GRCm39) R1316W possibly damaging Het
Pp2d1 T C 17: 53,814,873 (GRCm39) H617R probably benign Het
Pramel24 T A 4: 143,454,591 (GRCm39) S296R probably benign Het
Prpsap1 T C 11: 116,378,974 (GRCm39) K65E probably benign Het
Ptgfrn T C 3: 100,952,909 (GRCm39) E775G probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbbp8 C A 18: 11,854,747 (GRCm39) A324E probably benign Het
Rfx6 G T 10: 51,554,092 (GRCm39) G63* probably null Het
Rpl37a T C 1: 72,751,308 (GRCm39) M47T probably benign Het
Samm50 T G 15: 84,084,831 (GRCm39) N187K probably benign Het
Skic2 A G 17: 35,064,142 (GRCm39) probably null Het
Slamf9 T C 1: 172,303,799 (GRCm39) I48T possibly damaging Het
Slc2a12 A G 10: 22,577,931 (GRCm39) K576E probably damaging Het
Slc4a10 G A 2: 62,083,710 (GRCm39) G388S probably damaging Het
Smtn G T 11: 3,479,530 (GRCm39) N512K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sspo A G 6: 48,455,258 (GRCm39) Y3040C probably damaging Het
Stat1 T A 1: 52,183,401 (GRCm39) V389E probably damaging Het
Sult5a1 A T 8: 123,872,161 (GRCm39) M227K probably damaging Het
Thsd4 T C 9: 59,964,325 (GRCm39) D389G probably damaging Het
Tnxb T C 17: 34,923,052 (GRCm39) V2545A possibly damaging Het
Tpo T A 12: 30,142,589 (GRCm39) I712F probably damaging Het
Trim62 T C 4: 128,803,204 (GRCm39) V418A probably damaging Het
Uqcrc1 C A 9: 108,771,224 (GRCm39) H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r66 T C 7: 84,657,093 (GRCm39) D104G probably benign Het
Wdr26 T C 1: 181,015,251 (GRCm39) I371V probably benign Het
Zfp273 T G 13: 67,974,298 (GRCm39) C475W probably damaging Het
Zfp738 G T 13: 67,821,182 (GRCm39) T55K probably damaging Het
Zmym2 A G 14: 57,183,971 (GRCm39) I978V 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
R0497:Aatk UTSW 11 119,909,606 (GRCm39) missense probably damaging 0.99
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
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'- CAGGCATGAGTACACTTTCCC -3'
(R):5'- CCTGTCGCATTGCAAATACAGG -3'

Sequencing Primer
(F):5'- CTGTGTGGCAGCCCTAATCCTAG -3'
(R):5'- TCGCATTGCAAATACAGGGTGAG -3'
Posted On 2016-07-22