Incidental Mutation 'R2027:Aatk'
ID 220842
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 040035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2027 (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 119900143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1291 (S1291P)
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: S1348P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: S1348P

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 probably damaging
Transcript: ENSMUST00000103019
AA Change: S1291P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: S1291P

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: S1291P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: S1291P

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: ENSMUST00000136386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142959
Meta Mutation Damage Score 0.1147 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (70/70)
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
A4gnt T C 9: 99,502,254 (GRCm39) V138A possibly damaging Het
Adgrv1 C T 13: 81,743,301 (GRCm39) V67M probably damaging Het
Apoa4 G A 9: 46,154,298 (GRCm39) V300M probably damaging Het
Bcl2a1d A T 9: 88,613,438 (GRCm39) V112E possibly damaging Het
Bltp1 T A 3: 37,102,110 (GRCm39) probably benign Het
Cabp2 T A 19: 4,137,126 (GRCm39) M166K probably damaging Het
Camsap1 A G 2: 25,828,538 (GRCm39) V1062A possibly damaging Het
Cap1 T G 4: 122,756,686 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,385 (GRCm39) Y141H probably damaging Het
Card11 T C 5: 140,892,522 (GRCm39) Y181C probably damaging Het
Ccdc107 T C 4: 43,495,874 (GRCm39) V259A probably benign Het
Ccn4 A G 15: 66,789,258 (GRCm39) E248G possibly damaging Het
Chd9 A G 8: 91,634,619 (GRCm39) probably benign Het
Cibar1 T A 4: 12,171,216 (GRCm39) D79V probably damaging Het
Col12a1 T C 9: 79,553,075 (GRCm39) probably null Het
Cuzd1 T C 7: 130,921,820 (GRCm39) T61A possibly damaging Het
Dbp C A 7: 45,357,700 (GRCm39) D89E probably benign Het
Dhps A T 8: 85,799,240 (GRCm39) N140Y probably damaging Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dnah9 T G 11: 65,846,164 (GRCm39) N2958T probably benign Het
Dpp8 T A 9: 64,986,056 (GRCm39) Y849N probably damaging Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Faxc T C 4: 21,958,439 (GRCm39) probably benign Het
Frem3 G T 8: 81,421,966 (GRCm39) C2122F possibly damaging Het
Gan T C 8: 117,914,238 (GRCm39) probably null Het
Gnl1 A G 17: 36,293,850 (GRCm39) N274D probably benign Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Itpr1 C A 6: 108,363,814 (GRCm39) S812Y possibly damaging Het
Kbtbd3 C T 9: 4,317,075 (GRCm39) probably benign Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msantd5f6 A G 4: 73,321,295 (GRCm39) I154T possibly damaging Het
Myh11 A G 16: 14,050,532 (GRCm39) Y478H probably damaging Het
Myo7b A G 18: 32,118,013 (GRCm39) V871A probably benign Het
Nckap1 A T 2: 80,365,862 (GRCm39) M466K probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k6 A G 14: 50,475,406 (GRCm39) I312T probably benign Het
Or52r1b A T 7: 102,690,731 (GRCm39) H15L probably benign Het
Or5aq1b T A 2: 86,901,897 (GRCm39) N194Y possibly damaging Het
Or5m13 A C 2: 85,749,114 (GRCm39) S282R probably damaging Het
Or9k2 A G 10: 129,998,604 (GRCm39) I197T probably benign Het
Or9s23 A T 1: 92,501,489 (GRCm39) T199S probably damaging Het
Otof T C 5: 30,578,358 (GRCm39) T97A probably benign Het
Peli2 G A 14: 48,493,602 (GRCm39) E275K probably benign Het
Pik3c2a T C 7: 115,950,057 (GRCm39) Y1320C probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Pramel5 A G 4: 143,998,274 (GRCm39) L323P probably damaging Het
Prr5 A T 15: 84,585,580 (GRCm39) R183W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rabgef1 A G 5: 130,237,620 (GRCm39) D231G possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rc3h1 C T 1: 160,782,507 (GRCm39) P662L probably benign Het
Rpl7a-ps5 G T 17: 58,146,090 (GRCm39) Q47K probably benign Het
Sclt1 G A 3: 41,685,323 (GRCm39) T45I probably benign Het
Slc22a17 A G 14: 55,145,543 (GRCm39) I202T probably damaging Het
Slc25a13 A G 6: 6,073,487 (GRCm39) L457S probably damaging Het
Slc44a3 T C 3: 121,257,059 (GRCm39) probably benign Het
Slc7a9 G A 7: 35,153,562 (GRCm39) V188M probably damaging Het
Spata31d1e A G 13: 59,890,401 (GRCm39) M55T possibly damaging Het
Tmem161a T A 8: 70,630,170 (GRCm39) F119I probably damaging Het
Tmem240 A G 4: 155,819,892 (GRCm39) D32G possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Uqcrc1 G A 9: 108,776,083 (GRCm39) V262M probably benign Het
Vmn1r87 G A 7: 12,865,823 (GRCm39) R155C probably damaging Het
Vmn2r100 A T 17: 19,742,334 (GRCm39) Q236L probably benign Het
Vmn2r97 T A 17: 19,149,944 (GRCm39) I444N unknown Het
Yif1a A T 19: 5,139,900 (GRCm39) H115L probably damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null 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
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'- AGAACATAATGTCTGCCCAGAGG -3'
(R):5'- CGCCATATCATCTTAAGTGGGG -3'

Sequencing Primer
(F):5'- GTTAACAGGGCAATGTCC -3'
(R):5'- ACAGAAGTGACTTTCTGGTCCGAC -3'
Posted On 2014-08-25