Incidental Mutation 'R7557:Aatk'
| ID |
584846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatk
|
| Ensembl Gene |
ENSMUSG00000025375 |
| Gene Name |
apoptosis-associated tyrosine kinase |
| Synonyms |
AATYK1 |
| MMRRC Submission |
045652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R7557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119900256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1310
(K1310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067181
(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 |
possibly damaging
Transcript: ENSMUST00000064307
AA Change: K1310R
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: K1310R
| 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 |
possibly damaging
Transcript: ENSMUST00000103019
AA Change: K1253R
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: K1253R
| 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 |
possibly damaging
Transcript: ENSMUST00000103020
AA Change: K1253R
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: K1253R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,044 (GRCm39) |
Q1078* |
probably null |
Het |
| Acaa2 |
C |
T |
18: 74,928,230 (GRCm39) |
T153M |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,227,868 (GRCm39) |
T518A |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,359,579 (GRCm39) |
E143G |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,541 (GRCm39) |
T177S |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,391,238 (GRCm39) |
Y32N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,402 (GRCm39) |
T180A |
probably damaging |
Het |
| Dctn2 |
C |
A |
10: 127,114,273 (GRCm39) |
T373N |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,402,591 (GRCm39) |
D357G |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,849,691 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Emb |
T |
A |
13: 117,386,252 (GRCm39) |
N136K |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,773,536 (GRCm39) |
C62S |
probably damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,169,000 (GRCm39) |
A52E |
unknown |
Het |
| Gask1b |
A |
T |
3: 79,793,915 (GRCm39) |
K128* |
probably null |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,548 (GRCm39) |
D253G |
probably damaging |
Het |
| Gps1 |
C |
T |
11: 120,677,193 (GRCm39) |
A164V |
probably benign |
Het |
| Gramd4 |
C |
T |
15: 85,985,101 (GRCm39) |
Q146* |
probably null |
Het |
| Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,107 (GRCm39) |
T203A |
probably damaging |
Het |
| Krt26 |
G |
T |
11: 99,225,567 (GRCm39) |
R305S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,793 (GRCm39) |
V35A |
|
Het |
| Marf1 |
C |
T |
16: 13,950,560 (GRCm39) |
R942H |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,758 (GRCm39) |
M411K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,833 (GRCm39) |
S330P |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,435 (GRCm39) |
|
probably null |
Het |
| Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,390 (GRCm39) |
I199N |
possibly damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,855,847 (GRCm39) |
C747* |
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,806,183 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
A |
T |
9: 50,536,216 (GRCm39) |
E290D |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,753,848 (GRCm39) |
K1849E |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,372,271 (GRCm39) |
Y74H |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,460,860 (GRCm39) |
I1183S |
probably damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,135,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Rasa2 |
T |
C |
9: 96,439,478 (GRCm39) |
E575G |
probably damaging |
Het |
| Sec22b |
A |
G |
3: 97,808,674 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,518,213 (GRCm39) |
D267V |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
| Tcea1 |
T |
A |
1: 4,965,213 (GRCm39) |
C294* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,936,280 (GRCm39) |
I1274V |
possibly damaging |
Het |
| Txndc15 |
T |
A |
13: 55,865,767 (GRCm39) |
M77K |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,475 (GRCm39) |
V377D |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,632,394 (GRCm39) |
Y23H |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,394,841 (GRCm39) |
M887K |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,196 (GRCm39) |
N63D |
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 |
|
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 |
|
|
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'- CATAGATCCCCATTCGTGGTG -3'
(R):5'- TGACAGCTCTGCTCCTGAAC -3'
Sequencing Primer
(F):5'- ATTCGTGGTGTCCCTCTGC -3'
(R):5'- CTGAACCAGGTGAGCCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation