Incidental Mutation 'R8963:Aatk'
ID 682508
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 068797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R8963 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119898139-119937993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119902963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 421 (T421A)
Ref Sequence ENSEMBL: ENSMUSP00000099309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064307
AA Change: T478A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: T478A

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: T421A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: T421A

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: T421A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: T421A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,317,443 (GRCm39) probably null Het
Adgrv1 A T 13: 81,567,588 (GRCm39) V5195E probably benign Het
Adora2b C T 11: 62,139,983 (GRCm39) A19V possibly damaging Het
Ankrd28 A G 14: 31,477,698 (GRCm39) C115R probably benign Het
Ankrd35 T A 3: 96,587,003 (GRCm39) L106* probably null Het
Ankrd44 G A 1: 54,801,538 (GRCm39) A263V probably damaging Het
Apol7b T C 15: 77,308,120 (GRCm39) K125R possibly damaging Het
Cacna1c A T 6: 118,719,232 (GRCm39) L245* probably null Het
Cbll1 A T 12: 31,538,199 (GRCm39) H185Q probably damaging Het
Ccdc150 A C 1: 54,311,641 (GRCm39) N209T probably benign Het
Ccdc88a T A 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Cfap54 C A 10: 92,864,562 (GRCm39) G124* probably null Het
Chml A T 1: 175,514,601 (GRCm39) L440H probably damaging Het
Chrnd A T 1: 87,122,603 (GRCm39) Q128L probably damaging Het
Clvs2 A T 10: 33,498,677 (GRCm39) D84E probably benign Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Cyp2c40 T A 19: 39,755,926 (GRCm39) I463F possibly damaging Het
Cyp51 C A 5: 4,136,519 (GRCm39) R425L probably damaging Het
Daam1 A G 12: 71,992,018 (GRCm39) T279A unknown Het
Ebf2 G T 14: 67,665,554 (GRCm39) V571F probably benign Het
Elapor2 T A 5: 9,487,792 (GRCm39) N559K probably damaging Het
Elavl4 A T 4: 110,063,776 (GRCm39) I275N probably damaging Het
F11r A G 1: 171,288,505 (GRCm39) Q116R probably benign Het
Foxred2 T A 15: 77,829,805 (GRCm39) D580V probably benign Het
Gatad1 A C 5: 3,691,544 (GRCm39) L4R probably damaging Het
Gcn1 T A 5: 115,727,153 (GRCm39) M670K probably benign Het
Greb1 A T 12: 16,774,885 (GRCm39) F171I probably damaging Het
Grin2b A G 6: 136,021,007 (GRCm39) V98A probably damaging Het
Helz2 A T 2: 180,871,407 (GRCm39) V2735E probably damaging Het
Hrct1 A T 4: 43,727,564 (GRCm39) probably benign Het
Ighv1-11 C T 12: 114,575,864 (GRCm39) R117K probably damaging Het
Igkv12-46 A T 6: 69,741,754 (GRCm39) S34T probably damaging Het
Il27ra T A 8: 84,767,711 (GRCm39) N71Y probably damaging Het
Iqca1 G T 1: 90,067,649 (GRCm39) H201N probably benign Het
Itgb1bp1 C T 12: 21,324,864 (GRCm39) R64Q probably damaging Het
Katnb1 T C 8: 95,809,519 (GRCm39) L13S probably damaging Het
Kif26b G A 1: 178,743,714 (GRCm39) R1270Q probably benign Het
Klhdc2 A T 12: 69,347,065 (GRCm39) R77* probably null Het
Klra10 A T 6: 130,249,617 (GRCm39) probably null Het
Large1 A T 8: 73,542,612 (GRCm39) I704N probably damaging Het
Lrp1b G A 2: 40,888,196 (GRCm39) H2241Y probably benign Het
Lrpap1 T A 5: 35,255,001 (GRCm39) M212L probably benign Het
Mab21l1 A G 3: 55,690,348 (GRCm39) probably benign Het
Map4k4 A T 1: 40,039,740 (GRCm39) Q44L probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Me1 A T 9: 86,480,844 (GRCm39) F354I probably damaging Het
Nlrp1b A G 11: 71,108,658 (GRCm39) V281A probably damaging Het
Nrip2 A G 6: 128,385,288 (GRCm39) T240A possibly damaging Het
Nsmaf A G 4: 6,428,471 (GRCm39) V203A probably damaging Het
Or12e8 T A 2: 87,187,950 (GRCm39) I54K possibly damaging Het
Or4g17 A T 2: 111,209,645 (GRCm39) Q100L probably damaging Het
Or4n5 A T 14: 50,132,509 (GRCm39) M250K probably benign Het
Or8g2 A G 9: 39,821,495 (GRCm39) Y132C probably damaging Het
P4ha2 T C 11: 54,004,995 (GRCm39) F124L probably benign Het
Pcdha9 A T 18: 37,131,750 (GRCm39) D273V probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxnd1 G T 6: 115,949,506 (GRCm39) S760* probably null Het
Polr1b A G 2: 128,957,576 (GRCm39) T544A probably benign Het
Polr2g T C 19: 8,771,513 (GRCm39) D153G probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Rad51ap2 A C 12: 11,506,255 (GRCm39) E59A possibly damaging Het
Rrm1 A T 7: 102,105,739 (GRCm39) Y285F probably benign Het
Ryr3 A G 2: 112,667,015 (GRCm39) probably null Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Sftpd A G 14: 40,905,001 (GRCm39) V30A probably benign Het
Sirt6 A G 10: 81,462,378 (GRCm39) V7A probably benign Het
Ska1 C T 18: 74,330,639 (GRCm39) V188M probably damaging Het
Skint8 G A 4: 111,794,241 (GRCm39) M210I probably benign Het
Slc6a11 A G 6: 114,202,782 (GRCm39) probably null Het
Slc6a2 A T 8: 93,715,702 (GRCm39) H280L probably benign Het
Sptan1 T C 2: 29,873,744 (GRCm39) V208A possibly damaging Het
Taf6l T A 19: 8,752,135 (GRCm39) T518S probably benign Het
Thoc2l T C 5: 104,665,652 (GRCm39) V58A probably benign Het
Tsc22d1 T C 14: 76,656,266 (GRCm39) M59T probably benign Het
Unc5cl A G 17: 48,769,361 (GRCm39) T282A probably benign Het
Vav3 A G 3: 109,590,229 (GRCm39) K260E probably damaging Het
Vmn2r53 A G 7: 12,315,926 (GRCm39) V631A probably damaging Het
Zfp938 A T 10: 82,061,287 (GRCm39) F444L possibly 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
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
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'- AAGTACTCGCTACCCACTGAGG -3'
(R):5'- TCCTACTTGTGTGCTAAGGGC -3'

Sequencing Primer
(F):5'- GGGCTGTGGGCACTGAG -3'
(R):5'- CCACAGAATTGGAGGAGGAGTTTG -3'
Posted On 2021-08-31