Incidental Mutation 'R5063:Aatk'
ID |
386760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aatk
|
Ensembl Gene |
ENSMUSG00000025375 |
Gene Name |
apoptosis-associated tyrosine kinase |
Synonyms |
AATYK1 |
MMRRC Submission |
042653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5063 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119901315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 970
(H970R)
|
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: H1027R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000067181 Gene: ENSMUSG00000025375 AA Change: H1027R
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: H970R
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099308 Gene: ENSMUSG00000025375 AA Change: H970R
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: H970R
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099309 Gene: ENSMUSG00000025375 AA Change: H970R
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: ENSMUST00000128836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136386
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
Casp8 |
A |
T |
1: 58,883,533 (GRCm39) |
H280L |
probably damaging |
Het |
Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
Gbp9 |
T |
C |
5: 105,233,028 (GRCm39) |
Y208C |
probably benign |
Het |
Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
Slco1a5 |
G |
A |
6: 142,204,791 (GRCm39) |
R126C |
probably damaging |
Het |
Srebf2 |
T |
C |
15: 82,061,652 (GRCm39) |
V366A |
probably benign |
Het |
St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,648,603 (GRCm39) |
Y49C |
probably damaging |
Het |
Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATTTGGAATGACTTGGGCCG -3'
(R):5'- ATGAGTCGAGTGAGCCTGAG -3'
Sequencing Primer
(F):5'- ACTCCAACTGGGCCTTGAG -3'
(R):5'- CTGAGGCCTTTGGGGAGC -3'
|
Posted On |
2016-06-06 |