Incidental Mutation 'R6478:Aatk'
ID 516926
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 044610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6478 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119901817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 803 (S803C)
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 benign
Transcript: ENSMUST00000064307
AA Change: S860C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: S860C

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: S803C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: S803C

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: S803C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: S803C

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: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (75/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,625,034 (GRCm39) A454T probably damaging Het
Abr T C 11: 76,343,158 (GRCm39) E565G probably damaging Het
Adam33 C A 2: 130,893,266 (GRCm39) R753L probably benign Het
Adgre1 A G 17: 57,708,955 (GRCm39) T49A possibly damaging Het
Ankra2 A T 13: 98,404,950 (GRCm39) H153L probably damaging Het
Ankrd26 T G 6: 118,488,599 (GRCm39) E1353D probably benign Het
Ankrd52 T G 10: 128,215,200 (GRCm39) probably null Het
Arhgef10l T A 4: 140,270,068 (GRCm39) T619S possibly damaging Het
Armh4 A G 14: 50,010,789 (GRCm39) V306A possibly damaging Het
Asgr1 T C 11: 69,947,720 (GRCm39) V130A possibly damaging Het
Atg10 C A 13: 91,085,466 (GRCm39) C161F probably damaging Het
Atm A T 9: 53,401,554 (GRCm39) N1438K probably damaging Het
BC107364 T A 3: 96,343,322 (GRCm39) probably null Het
Bcar3 G T 3: 122,220,225 (GRCm39) A41S probably benign Het
Btbd6 A G 12: 112,940,932 (GRCm39) probably benign Het
Cchcr1 A G 17: 35,835,600 (GRCm39) T318A possibly damaging Het
Celsr1 A T 15: 85,809,719 (GRCm39) I2221N probably damaging Het
Cept1 C T 3: 106,440,761 (GRCm39) W48* probably null Het
Cfap161 T A 7: 83,442,484 (GRCm39) I85L probably benign Het
Clasp1 A T 1: 118,439,910 (GRCm39) R640* probably null Het
Col5a1 T A 2: 27,842,448 (GRCm39) I441N unknown Het
Col9a1 C A 1: 24,224,486 (GRCm39) L223I unknown Het
Dnah2 T C 11: 69,406,836 (GRCm39) D223G probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpy19l1 A T 9: 24,361,992 (GRCm39) M129K possibly damaging Het
Ecpas A T 4: 58,810,785 (GRCm39) I1524N probably damaging Het
Fcgbpl1 C G 7: 27,854,798 (GRCm39) P1808R probably damaging Het
Fcrl1 C A 3: 87,296,946 (GRCm39) H318Q probably benign Het
Fer1l5 A G 1: 36,441,612 (GRCm39) N609S probably damaging Het
Fkbp4 C T 6: 128,410,194 (GRCm39) E256K probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Glrx G A 13: 75,995,418 (GRCm39) probably null Het
Gm7356 A T 17: 14,221,726 (GRCm39) M101K probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Hectd3 A C 4: 116,856,783 (GRCm39) K443N probably damaging Het
Hmcn1 T A 1: 150,540,535 (GRCm39) R2925W probably damaging Het
Hspa1a G T 17: 35,189,282 (GRCm39) N540K probably damaging Het
Ints6 A T 14: 62,938,235 (GRCm39) M649K probably benign Het
Katnb1 T C 8: 95,822,084 (GRCm39) V270A possibly damaging Het
Kctd3 A G 1: 188,704,561 (GRCm39) S737P probably benign Het
Klra10 T C 6: 130,249,507 (GRCm39) probably null Het
Lmtk3 A G 7: 45,448,013 (GRCm39) D1353G unknown Het
Lrrk1 A G 7: 65,912,481 (GRCm39) V1693A probably damaging Het
Mpnd A T 17: 56,316,575 (GRCm39) I85F probably damaging Het
Myo3b A G 2: 70,179,304 (GRCm39) T1173A probably benign Het
Myof G A 19: 37,892,279 (GRCm39) P1158L probably damaging Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Ncor2 A G 5: 125,187,069 (GRCm39) probably benign Het
Npepps C T 11: 97,149,099 (GRCm39) probably null Het
Opn5 T A 17: 42,891,640 (GRCm39) I266F probably benign Het
Or4a74 T G 2: 89,439,790 (GRCm39) I219L probably damaging Het
P2rx4 A G 5: 122,845,763 (GRCm39) D16G probably damaging Het
Padi2 G T 4: 140,644,948 (GRCm39) V61L probably benign Het
Pkd1l1 G A 11: 8,813,911 (GRCm39) T1480I probably benign Het
Plcb1 T C 2: 135,177,371 (GRCm39) S568P probably damaging Het
Rassf10 A G 7: 112,554,914 (GRCm39) E505G probably damaging Het
Rcan2 A G 17: 44,147,225 (GRCm39) E21G probably benign Het
Rhob G T 12: 8,549,585 (GRCm39) C16* probably null Het
Ryr3 T C 2: 112,490,413 (GRCm39) N3807S probably damaging Het
Sass6 T A 3: 116,415,046 (GRCm39) N519K probably benign Het
Slco1a8 A T 6: 141,939,368 (GRCm39) N208K possibly damaging Het
Smad9 A T 3: 54,689,864 (GRCm39) D28V probably damaging Het
Spmip8 A T 8: 96,047,894 (GRCm39) probably null Het
Tex14 G T 11: 87,405,199 (GRCm39) G704C probably benign Het
Tmc3 A G 7: 83,271,524 (GRCm39) N892S probably benign Het
Tnfaip2 T A 12: 111,412,097 (GRCm39) L166Q probably damaging Het
Triml2 A G 8: 43,638,165 (GRCm39) probably null Het
Trio A G 15: 27,856,193 (GRCm39) V666A probably benign Het
Tshz2 G T 2: 169,726,584 (GRCm39) L393F probably damaging Het
Ttn T G 2: 76,672,115 (GRCm39) probably benign Het
Tubb5 A G 17: 36,146,734 (GRCm39) Y159H probably damaging Het
Umodl1 A G 17: 31,178,129 (GRCm39) Y35C probably damaging Het
Utp4 T C 8: 107,631,078 (GRCm39) probably null Het
Vmn1r60 A T 7: 5,547,864 (GRCm39) C79S probably damaging Het
Wnt5b T C 6: 119,410,751 (GRCm39) T230A probably damaging Het
Zfp618 A T 4: 63,050,943 (GRCm39) I575F probably damaging Het
Zmym6 G T 4: 127,017,176 (GRCm39) V894L possibly damaging Het
Zpbp T C 11: 11,412,318 (GRCm39) 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
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
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'- ACGGTATGTCCAGAGAGTCC -3'
(R):5'- GAGAACCCCATTGTGGAACC -3'

Sequencing Primer
(F):5'- TATGTCCAGAGAGTCCAGGGAGTC -3'
(R):5'- TTGTGGAACCCAAACTTGCC -3'
Posted On 2018-05-21