Incidental Mutation 'IGL02377:Aatk'
| ID |
291210 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aatk
|
| Ensembl Gene |
ENSMUSG00000025375 |
| Gene Name |
apoptosis-associated tyrosine kinase |
| Synonyms |
AATYK1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL02377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 119937689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064307]
[ENSMUST00000103020]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064307
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
| 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: 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: ENSMUST00000150730
|
| Coding Region Coverage |
|
| 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 |
|---|
| Abca15 |
T |
C |
7: 119,965,133 (GRCm39) |
|
probably benign |
Het |
| App |
T |
C |
16: 84,879,719 (GRCm39) |
Q138R |
probably benign |
Het |
| Asah2 |
T |
A |
19: 31,986,814 (GRCm39) |
I529F |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,356,128 (GRCm39) |
S1195P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,149 (GRCm39) |
M134T |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 135,996,732 (GRCm39) |
L111P |
probably damaging |
Het |
| Capns2 |
A |
T |
8: 93,628,215 (GRCm39) |
N35Y |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,798,415 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
G |
T |
16: 38,153,181 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
G |
T |
18: 61,257,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,313,930 (GRCm39) |
I131F |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,817,007 (GRCm39) |
Y326F |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 31,013,770 (GRCm39) |
V3837A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,562,711 (GRCm39) |
|
probably null |
Het |
| Emg1 |
A |
G |
6: 124,681,620 (GRCm39) |
V208A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,727,282 (GRCm39) |
D1280V |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,868,691 (GRCm39) |
D911G |
unknown |
Het |
| Fam171a1 |
T |
C |
2: 3,224,623 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,806,395 (GRCm39) |
V2121A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,511,714 (GRCm39) |
|
probably benign |
Het |
| Fignl1 |
G |
T |
11: 11,752,845 (GRCm39) |
T70K |
possibly damaging |
Het |
| Fndc3b |
T |
C |
3: 27,674,801 (GRCm39) |
E47G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,385 (GRCm39) |
K189E |
possibly damaging |
Het |
| Hpse |
T |
A |
5: 100,839,199 (GRCm39) |
Y383F |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,681,798 (GRCm39) |
L197P |
probably damaging |
Het |
| Klf1 |
A |
C |
8: 85,631,561 (GRCm39) |
H375P |
probably damaging |
Het |
| Krtap6-5 |
T |
A |
16: 88,844,734 (GRCm39) |
|
probably benign |
Het |
| Lacc1 |
A |
T |
14: 77,267,055 (GRCm39) |
S403T |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,689,807 (GRCm39) |
I2850V |
possibly damaging |
Het |
| Lats2 |
C |
T |
14: 57,929,052 (GRCm39) |
R941Q |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,284,290 (GRCm39) |
Y430N |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,850,743 (GRCm39) |
H1103L |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,365 (GRCm39) |
M1I |
probably null |
Het |
| Magee2 |
A |
T |
X: 103,900,399 (GRCm39) |
V84D |
possibly damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,602 (GRCm39) |
V281I |
possibly damaging |
Het |
| Mycbpap |
A |
G |
11: 94,394,076 (GRCm39) |
V340A |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,181,775 (GRCm39) |
M1842K |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,906,130 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nfkbid |
C |
T |
7: 30,124,689 (GRCm39) |
Q160* |
probably null |
Het |
| Or11h6 |
T |
A |
14: 50,879,975 (GRCm39) |
|
probably null |
Het |
| Or2y1d |
A |
T |
11: 49,321,859 (GRCm39) |
K185N |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,475,630 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or7e168 |
C |
T |
9: 19,720,343 (GRCm39) |
S243F |
probably damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,542 (GRCm39) |
T122S |
probably damaging |
Het |
| Or9q2 |
T |
G |
19: 13,772,693 (GRCm39) |
Q94P |
possibly damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,213,404 (GRCm39) |
Q916P |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,050,743 (GRCm39) |
Q174R |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,321 (GRCm39) |
S970P |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,102,667 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,955,952 (GRCm39) |
V165A |
possibly damaging |
Het |
| Rdh10 |
G |
A |
1: 16,176,438 (GRCm39) |
W66* |
probably null |
Het |
| Ripor2 |
T |
A |
13: 24,879,549 (GRCm39) |
|
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,391,678 (GRCm39) |
M320K |
possibly damaging |
Het |
| Slc9a7 |
A |
G |
X: 20,068,963 (GRCm39) |
Y197H |
probably damaging |
Het |
| Smn1 |
T |
C |
13: 100,272,192 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
G |
A |
6: 24,796,696 (GRCm39) |
G216S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,068,194 (GRCm39) |
N114I |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,069,491 (GRCm39) |
V1615D |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc2 |
T |
A |
X: 40,914,355 (GRCm39) |
Q1005H |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,652,742 (GRCm39) |
R189Q |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,983,685 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,882,934 (GRCm39) |
H886Q |
probably damaging |
Het |
| Zfp157 |
G |
A |
5: 138,445,859 (GRCm39) |
W71* |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation