Incidental Mutation 'IGL01019:Aatk'
ID |
53884 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aatk
|
Ensembl Gene |
ENSMUSG00000025375 |
Gene Name |
apoptosis-associated tyrosine kinase |
Synonyms |
AATYK1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119903101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 375
(S375G)
|
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 benign
Transcript: ENSMUST00000064307
AA Change: S432G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067181 Gene: ENSMUSG00000025375 AA Change: S432G
Domain | Start | End | E-Value | Type |
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: S375G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099308 Gene: ENSMUSG00000025375 AA Change: S375G
Domain | Start | End | E-Value | Type |
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: S375G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099309 Gene: ENSMUSG00000025375 AA Change: S375G
Domain | Start | End | E-Value | Type |
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: ENSMUST00000136386
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142959
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably damaging |
Het |
|
Other mutations in Aatk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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 |
|
|
Posted On |
2013-06-28 |