Incidental Mutation 'R6753:Aatk'
ID 530913
Institutional Source Beutler Lab
Gene Symbol Aatk
Ensembl Gene ENSMUSG00000025375
Gene Name apoptosis-associated tyrosine kinase
Synonyms AATYK1
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120007313-120047167 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120010151 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1083 (P1083S)
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: P1140S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: P1140S

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: P1083S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: P1083S

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: P1083S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: P1083S

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: ENSMUST00000142959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198674
Meta Mutation Damage Score 0.0794 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akap10 A T 11: 61,886,777 (GRCm38) M586K probably damaging Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Gucy1b1 T C 3: 82,039,747 (GRCm38) D385G probably null Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Jaml A G 9: 45,107,379 (GRCm38) N359D probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Or5ak4 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pcnx1 C A 12: 81,964,480 (GRCm38) D1238E probably damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rims2 A G 15: 39,566,973 (GRCm38) Q871R possibly damaging Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zup1 A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Aatk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Aatk APN 11 120,010,186 (GRCm38) missense probably benign 0.02
IGL00953:Aatk APN 11 120,011,221 (GRCm38) missense probably benign 0.00
IGL01019:Aatk APN 11 120,012,275 (GRCm38) missense probably benign
IGL01758:Aatk APN 11 120,010,819 (GRCm38) missense possibly damaging 0.86
IGL02377:Aatk APN 11 120,046,863 (GRCm38) utr 5 prime probably benign
IGL02902:Aatk APN 11 120,011,777 (GRCm38) missense probably benign 0.00
IGL03067:Aatk APN 11 120,010,083 (GRCm38) missense probably benign 0.00
IGL03116:Aatk APN 11 120,016,751 (GRCm38) missense probably benign 0.14
IGL03279:Aatk APN 11 120,013,678 (GRCm38) missense probably damaging 1.00
IGL03405:Aatk APN 11 120,016,403 (GRCm38) missense probably benign 0.02
PIT4366001:Aatk UTSW 11 120,010,960 (GRCm38) missense possibly damaging 0.55
PIT4802001:Aatk UTSW 11 120,011,346 (GRCm38) missense probably benign
R0101:Aatk UTSW 11 120,010,913 (GRCm38) missense probably benign 0.19
R0497:Aatk UTSW 11 120,018,780 (GRCm38) missense probably damaging 0.99
R0535:Aatk UTSW 11 120,010,193 (GRCm38) missense probably benign 0.00
R0638:Aatk UTSW 11 120,009,922 (GRCm38) missense probably damaging 1.00
R0939:Aatk UTSW 11 120,012,143 (GRCm38) missense probably damaging 0.99
R1475:Aatk UTSW 11 120,010,888 (GRCm38) missense probably damaging 0.96
R1840:Aatk UTSW 11 120,013,732 (GRCm38) missense probably damaging 1.00
R1865:Aatk UTSW 11 120,010,222 (GRCm38) missense probably benign 0.00
R1982:Aatk UTSW 11 120,013,514 (GRCm38) missense probably damaging 1.00
R2027:Aatk UTSW 11 120,009,317 (GRCm38) missense probably damaging 1.00
R2115:Aatk UTSW 11 120,009,736 (GRCm38) missense probably benign
R2220:Aatk UTSW 11 120,012,177 (GRCm38) missense probably damaging 1.00
R2264:Aatk UTSW 11 120,010,274 (GRCm38) missense probably damaging 1.00
R2504:Aatk UTSW 11 120,018,855 (GRCm38) missense probably benign 0.00
R3872:Aatk UTSW 11 120,010,219 (GRCm38) missense possibly damaging 0.71
R4551:Aatk UTSW 11 120,011,569 (GRCm38) missense probably benign 0.03
R4657:Aatk UTSW 11 120,013,478 (GRCm38) missense possibly damaging 0.69
R4744:Aatk UTSW 11 120,016,122 (GRCm38) missense possibly damaging 0.64
R4924:Aatk UTSW 11 120,011,525 (GRCm38) missense probably damaging 1.00
R5063:Aatk UTSW 11 120,010,489 (GRCm38) missense probably benign 0.07
R5223:Aatk UTSW 11 120,013,452 (GRCm38) missense possibly damaging 0.95
R5243:Aatk UTSW 11 120,016,768 (GRCm38) missense probably damaging 1.00
R5376:Aatk UTSW 11 120,012,034 (GRCm38) missense probably damaging 0.98
R5442:Aatk UTSW 11 120,018,768 (GRCm38) missense probably benign 0.02
R5550:Aatk UTSW 11 120,009,303 (GRCm38) missense probably benign 0.42
R5678:Aatk UTSW 11 120,010,154 (GRCm38) missense probably benign 0.00
R5932:Aatk UTSW 11 120,021,533 (GRCm38) missense probably damaging 1.00
R6026:Aatk UTSW 11 120,012,364 (GRCm38) missense possibly damaging 0.65
R6129:Aatk UTSW 11 120,021,533 (GRCm38) missense probably damaging 1.00
R6409:Aatk UTSW 11 120,011,732 (GRCm38) missense probably benign 0.01
R6477:Aatk UTSW 11 120,018,870 (GRCm38) missense probably benign 0.00
R6478:Aatk UTSW 11 120,010,991 (GRCm38) missense probably benign 0.00
R6749:Aatk UTSW 11 120,010,774 (GRCm38) missense possibly damaging 0.58
R6787:Aatk UTSW 11 120,010,682 (GRCm38) missense probably damaging 1.00
R6852:Aatk UTSW 11 120,010,468 (GRCm38) missense probably benign 0.10
R7114:Aatk UTSW 11 120,009,619 (GRCm38) missense probably benign
R7557:Aatk UTSW 11 120,009,430 (GRCm38) missense possibly damaging 0.73
R7818:Aatk UTSW 11 120,021,455 (GRCm38) missense probably benign
R7954:Aatk UTSW 11 120,012,343 (GRCm38) missense possibly damaging 0.51
R8176:Aatk UTSW 11 120,016,415 (GRCm38) missense probably damaging 0.99
R8420:Aatk UTSW 11 120,046,920 (GRCm38) missense unknown
R8963:Aatk UTSW 11 120,012,137 (GRCm38) missense probably damaging 1.00
R9090:Aatk UTSW 11 120,011,114 (GRCm38) missense probably damaging 0.98
R9167:Aatk UTSW 11 120,011,126 (GRCm38) missense possibly damaging 0.90
R9271:Aatk UTSW 11 120,011,114 (GRCm38) missense probably damaging 0.98
R9357:Aatk UTSW 11 120,010,870 (GRCm38) missense probably benign 0.01
R9373:Aatk UTSW 11 120,015,517 (GRCm38) missense possibly damaging 0.95
R9420:Aatk UTSW 11 120,021,451 (GRCm38) missense probably benign 0.01
R9423:Aatk UTSW 11 120,010,694 (GRCm38) missense probably damaging 1.00
R9476:Aatk UTSW 11 120,010,268 (GRCm38) missense probably benign 0.01
R9510:Aatk UTSW 11 120,010,268 (GRCm38) missense probably benign 0.01
R9519:Aatk UTSW 11 120,021,483 (GRCm38) start gained probably benign
R9605:Aatk UTSW 11 120,011,383 (GRCm38) missense possibly damaging 0.88
R9649:Aatk UTSW 11 120,010,907 (GRCm38) missense probably damaging 1.00
R9766:Aatk UTSW 11 120,011,739 (GRCm38) missense probably benign 0.00
X0064:Aatk UTSW 11 120,011,176 (GRCm38) splice site probably null
Predicted Primers PCR Primer
(F):5'- CGTAGATTTCGGGCACTCTG -3'
(R):5'- TTTCCCAGGTCTGCAGTGTC -3'

Sequencing Primer
(F):5'- GCACTCTGGCTCTCAGC -3'
(R):5'- CTCCACAGCAGTCAGAGGAG -3'
Posted On 2018-08-01