Incidental Mutation 'R2264:Aatk'
ID 244012
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 040264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2264 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119901100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1042 (S1042P)
Ref Sequence ENSEMBL: ENSMUSP00000099309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026436] [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020] [ENSMUST00000106233]
AlphaFold no structure available at present
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 damaging
Transcript: ENSMUST00000064307
AA Change: S1099P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: S1099P

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: S1042P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: S1042P

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: S1042P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: S1042P

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: ENSMUST00000132575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142959
Meta Mutation Damage Score 0.0779 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
B4galnt3 T C 6: 120,180,771 (GRCm39) *986W probably null Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dnai7 A G 6: 145,154,155 (GRCm39) probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fermt1 C T 2: 132,757,110 (GRCm39) probably null Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tinagl1 A G 4: 130,061,226 (GRCm39) V308A probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S 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
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'- TAGATTTCGGGCACTCTGGC -3'
(R):5'- GATCCAGGACTCCCAAAAGG -3'

Sequencing Primer
(F):5'- CGGAGCTCCTCATCAGACTC -3'
(R):5'- AGACCTGAGGAGCCCACCTAG -3'
Posted On 2014-10-16