Incidental Mutation 'R6129:Aatk'
| ID |
487584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatk
|
| Ensembl Gene |
ENSMUSG00000025375 |
| Gene Name |
apoptosis-associated tyrosine kinase |
| Synonyms |
AATYK1 |
| MMRRC Submission |
044276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R6129 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119912359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 29
(G29S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067181
(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: G29S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: G29S
| 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 |
probably benign
Transcript: ENSMUST00000103019
|
| SMART Domains |
Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
| 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: ENSMUST00000134319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
| Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
| Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
| Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
| Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
| Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
| Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
| Gm5431 |
A |
G |
11: 48,780,418 (GRCm39) |
L168P |
probably damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
| Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
| Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
| Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
| Mysm1 |
C |
A |
4: 94,856,192 (GRCm39) |
R135L |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
| Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,178,467 (GRCm39) |
A509V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
| Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
| Stk10 |
T |
A |
11: 32,565,871 (GRCm39) |
C872S |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
| Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
probably benign |
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 |
|
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 |
|
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'- TTGGAGACCAGACAAGGGGTTC -3'
(R):5'- GACCCTGATATCACAGAGAGC -3'
Sequencing Primer
(F):5'- ACAAGGGGTTCAGCTGGTCAC -3'
(R):5'- AGAGAGCTGTCCATGGACCTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation