Incidental Mutation 'R5678:Aatk'
| ID |
442899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatk
|
| Ensembl Gene |
ENSMUSG00000025375 |
| Gene Name |
apoptosis-associated tyrosine kinase |
| Synonyms |
AATYK1 |
| MMRRC Submission |
043317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R5678 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119900980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1082
(T1082A)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: T1139A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: T1139A
| 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: T1082A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: T1082A
| 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: T1082A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: T1082A
| 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: ENSMUST00000106233
|
| SMART Domains |
Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000142959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198674
|
| Meta Mutation Damage Score |
0.0705 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
| Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
| Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,398 (GRCm39) |
S67P |
possibly damaging |
Het |
| Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
| Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
| Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
| Esrp2 |
G |
A |
8: 106,858,750 (GRCm39) |
A629V |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
| Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
| Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,249 (GRCm39) |
I40T |
probably damaging |
Het |
| Srpk2 |
TCA |
T |
5: 23,729,604 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,783,397 (GRCm39) |
|
probably null |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
| Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
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 |
|
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'- GTAGATTTCGGGCACTCTGG -3'
(R):5'- CAGTCTGTGCAGGCTTTTCC -3'
Sequencing Primer
(F):5'- GCACTCTGGCTCTCAGC -3'
(R):5'- AGGCTTTTCCCAGGTCTGCAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation