Incidental Mutation 'R7954:Aatk'
| ID |
649728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatk
|
| Ensembl Gene |
ENSMUSG00000025375 |
| Gene Name |
apoptosis-associated tyrosine kinase |
| Synonyms |
AATYK1 |
| MMRRC Submission |
045998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119898139-119937993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119903169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 409
(C409Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064307]
[ENSMUST00000103019]
[ENSMUST00000103020]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064307
AA Change: C409Y
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: C409Y
| 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: ENSMUST00000103019
AA Change: C352Y
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: C352Y
| 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: C352Y
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: C352Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
T |
7: 119,179,952 (GRCm39) |
T390I |
probably damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,581 (GRCm39) |
Y564H |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,494,773 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,598,144 (GRCm39) |
V990A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,164,712 (GRCm39) |
V318E |
probably damaging |
Het |
| Ano6 |
G |
T |
15: 95,863,702 (GRCm39) |
A741S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,447,321 (GRCm39) |
S1406G |
probably damaging |
Het |
| Cemip2 |
T |
A |
19: 21,770,264 (GRCm39) |
I84N |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,662,234 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
A |
T |
6: 42,263,625 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Dnmbp |
A |
T |
19: 43,890,742 (GRCm39) |
W342R |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,674,993 (GRCm39) |
|
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,006 (GRCm39) |
I284T |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,816,599 (GRCm39) |
T2767A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,088,034 (GRCm39) |
V162A |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,909,708 (GRCm39) |
I2098T |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,748,767 (GRCm39) |
N384S |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 78,008,826 (GRCm39) |
L78P |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,476,854 (GRCm39) |
R525H |
possibly damaging |
Het |
| Gpr15 |
T |
G |
16: 58,539,047 (GRCm39) |
D14A |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,807,920 (GRCm39) |
I189T |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,067,283 (GRCm39) |
I376V |
probably benign |
Het |
| Hs6st3 |
T |
C |
14: 120,106,522 (GRCm39) |
V310A |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,696,944 (GRCm39) |
I531F |
probably damaging |
Het |
| Krtcap3 |
T |
C |
5: 31,410,015 (GRCm39) |
L166P |
probably damaging |
Het |
| Lmod1 |
A |
C |
1: 135,252,794 (GRCm39) |
D16A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,333,867 (GRCm39) |
N1458T |
possibly damaging |
Het |
| Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
| Nop14 |
G |
A |
5: 34,807,729 (GRCm39) |
P411L |
probably benign |
Het |
| Nr2f1 |
A |
C |
13: 78,338,113 (GRCm39) |
D334E |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,212 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,119 (GRCm39) |
N274D |
probably benign |
Het |
| Paqr9 |
G |
A |
9: 95,442,681 (GRCm39) |
V224M |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,651 (GRCm39) |
T464A |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,543 (GRCm39) |
R188G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,977,454 (GRCm39) |
R1150* |
probably null |
Het |
| Rgs22 |
A |
C |
15: 36,082,148 (GRCm39) |
F653V |
possibly damaging |
Het |
| Spata2 |
T |
C |
2: 167,325,857 (GRCm39) |
T321A |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,984,422 (GRCm39) |
F118I |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,849 (GRCm39) |
S921N |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,169,481 (GRCm39) |
|
probably null |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,571,568 (GRCm39) |
T171I |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,205,361 (GRCm39) |
Q652L |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,981 (GRCm39) |
L945P |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,234,960 (GRCm39) |
H1263R |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,871 (GRCm39) |
M182K |
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,227 (GRCm39) |
C279* |
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 |
|
|
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 |
|
|
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'- TCATCACTGTCCACGTGAAAGC -3'
(R):5'- CTAGTGTTCCCAGGGTACTCTG -3'
Sequencing Primer
(F):5'- TCCACGTGAAAGCCGTCG -3'
(R):5'- TTCCCAGGGTACTCTGAGCATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation