Incidental Mutation 'R4744:Aatk'
ID 356598
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 042027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R4744 (G1)
Quality Score 184
Status Validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119906948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 155 (M155T)
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: M212T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: M212T

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: M155T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: M155T

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: M155T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: M155T

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: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142959
Meta Mutation Damage Score 0.4460 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
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
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Etnk1 A C 6: 143,132,319 (GRCm39) N220T probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Nck1 T C 9: 100,388,797 (GRCm39) I6V probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc1a2 A G 2: 102,568,214 (GRCm39) I84V probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sufu A G 19: 46,472,069 (GRCm39) M443V possibly damaging Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Usp32 G A 11: 84,885,219 (GRCm39) P1276L probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F probably damaging 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
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'- ATCCAAGACCCCACAGTGTTG -3'
(R):5'- TGATGCCTGTCACATTTGGC -3'

Sequencing Primer
(F):5'- ACAGTGTTGCCCCTGCTG -3'
(R):5'- CAGGAGCAGATGCAGTTCCTG -3'
Posted On 2015-11-11