Incidental Mutation 'R2220:Aatk'
ID |
241446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aatk
|
Ensembl Gene |
ENSMUSG00000025375 |
Gene Name |
apoptosis-associated tyrosine kinase |
Synonyms |
AATYK1 |
MMRRC Submission |
040222-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R2220 (G1)
|
Quality Score |
198 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 119903003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 407
(F407L)
|
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 damaging
Transcript: ENSMUST00000064307
AA Change: F464L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000067181 Gene: ENSMUSG00000025375 AA Change: F464L
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 damaging
Transcript: ENSMUST00000103019
AA Change: F407L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099308 Gene: ENSMUSG00000025375 AA Change: F407L
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 damaging
Transcript: ENSMUST00000103020
AA Change: F407L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099309 Gene: ENSMUSG00000025375 AA Change: F407L
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: ENSMUST00000198674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136386
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
C |
4: 144,344,572 (GRCm39) |
I116T |
probably damaging |
Het |
Abca8a |
A |
T |
11: 109,917,681 (GRCm39) |
L1586Q |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
A |
G |
14: 49,318,552 (GRCm39) |
D420G |
probably damaging |
Het |
Bcl6 |
A |
T |
16: 23,791,382 (GRCm39) |
L324* |
probably null |
Het |
Bicc1 |
A |
G |
10: 70,785,955 (GRCm39) |
S396P |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,929,679 (GRCm39) |
|
probably null |
Het |
Ccdc83 |
G |
A |
7: 89,908,722 (GRCm39) |
S4L |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,881,178 (GRCm39) |
H363R |
probably damaging |
Het |
Cfap61 |
G |
A |
2: 145,878,736 (GRCm39) |
|
probably null |
Het |
Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,557,947 (GRCm39) |
F1062I |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,042,641 (GRCm39) |
D2364G |
possibly damaging |
Het |
Cyb5d1 |
T |
C |
11: 69,285,871 (GRCm39) |
D55G |
probably benign |
Het |
Cyp2c29 |
A |
T |
19: 39,275,676 (GRCm39) |
I39F |
probably benign |
Het |
Cyp2j8 |
T |
C |
4: 96,332,862 (GRCm39) |
S495G |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,560,333 (GRCm39) |
V2113I |
probably benign |
Het |
Dusp3 |
T |
C |
11: 101,865,631 (GRCm39) |
N95D |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
Flg2 |
T |
G |
3: 93,109,492 (GRCm39) |
S507A |
unknown |
Het |
Gdf6 |
A |
G |
4: 9,844,770 (GRCm39) |
H98R |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,727,439 (GRCm39) |
N63S |
possibly damaging |
Het |
Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
Gtf2h5 |
G |
A |
17: 6,134,853 (GRCm39) |
E48K |
probably benign |
Het |
Hivep3 |
T |
G |
4: 119,591,235 (GRCm39) |
V81G |
possibly damaging |
Het |
Igsf21 |
A |
G |
4: 139,755,425 (GRCm39) |
M410T |
probably damaging |
Het |
Insrr |
T |
C |
3: 87,716,725 (GRCm39) |
L651P |
probably damaging |
Het |
Iqcb1 |
A |
T |
16: 36,663,824 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
Mertk |
T |
A |
2: 128,643,392 (GRCm39) |
N930K |
probably benign |
Het |
Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,643,989 (GRCm39) |
C614S |
probably damaging |
Het |
Or13a19 |
T |
C |
7: 139,903,484 (GRCm39) |
S291P |
probably benign |
Het |
Or2l13b |
A |
T |
16: 19,348,895 (GRCm39) |
Y258* |
probably null |
Het |
Or5k1 |
G |
T |
16: 58,617,987 (GRCm39) |
A74D |
possibly damaging |
Het |
Pard3b |
C |
T |
1: 62,518,842 (GRCm39) |
R976* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,612,020 (GRCm39) |
T327A |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
Ppp1r37 |
C |
A |
7: 19,266,371 (GRCm39) |
R465L |
probably null |
Het |
Ppp3ca |
C |
A |
3: 136,503,685 (GRCm39) |
T86K |
probably damaging |
Het |
Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,327,254 (GRCm39) |
L1747P |
possibly damaging |
Het |
Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
Slc25a18 |
G |
A |
6: 120,770,518 (GRCm39) |
|
probably null |
Het |
Stt3a |
A |
G |
9: 36,660,847 (GRCm39) |
|
probably null |
Het |
Supt16 |
G |
A |
14: 52,409,601 (GRCm39) |
R770* |
probably null |
Het |
Syde2 |
A |
G |
3: 145,707,713 (GRCm39) |
I551V |
probably benign |
Het |
Tasor2 |
A |
T |
13: 3,631,872 (GRCm39) |
N876K |
probably benign |
Het |
Tecta |
T |
C |
9: 42,303,326 (GRCm39) |
D102G |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,152,039 (GRCm39) |
I294N |
possibly damaging |
Het |
Tmem174 |
T |
C |
13: 98,773,767 (GRCm39) |
Y21C |
probably damaging |
Het |
Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
Trim30c |
A |
G |
7: 104,032,474 (GRCm39) |
V284A |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,904,890 (GRCm39) |
V79M |
probably damaging |
Het |
Wfdc18 |
C |
T |
11: 83,600,739 (GRCm39) |
R45* |
probably null |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGTACTCGCTACCCACTGAGG -3'
(R):5'- CCTACTTGTGTGCTAAGGGC -3'
Sequencing Primer
(F):5'- TGAGGACTGGCACCACAC -3'
(R):5'- GGCACCACAGAATTGGAGG -3'
|
Posted On |
2014-10-15 |