Incidental Mutation 'R4377:Adck5'
| ID |
325169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adck5
|
| Ensembl Gene |
ENSMUSG00000022550 |
| Gene Name |
aarF domain containing kinase 5 |
| Synonyms |
|
| MMRRC Submission |
041676-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76460559-76480012 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 76478535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000162503]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000231042]
[ENSMUST00000230157]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS1_N
|
92 |
684 |
7.2e-42 |
PFAM |
|
low complexity region
|
902 |
910 |
N/A |
INTRINSIC |
|
Pfam:CPSF_A
|
1071 |
1407 |
4.9e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160784
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161612
|
| SMART Domains |
Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap22 |
A |
G |
14: 33,091,467 (GRCm39) |
M681V |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,108,196 (GRCm39) |
C384R |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,941,877 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpp |
A |
G |
13: 49,647,907 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,923,680 (GRCm39) |
V12A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,046,535 (GRCm39) |
|
probably null |
Het |
| Gart |
G |
A |
16: 91,430,982 (GRCm39) |
A360V |
probably benign |
Het |
| Gm7251 |
T |
A |
13: 49,958,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,453 (GRCm39) |
Y981C |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,493,202 (GRCm39) |
C107Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,379,082 (GRCm39) |
V138M |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,903,253 (GRCm39) |
E263G |
possibly damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,054 (GRCm39) |
I50V |
possibly damaging |
Het |
| Mug2 |
G |
T |
6: 122,047,966 (GRCm39) |
|
probably null |
Het |
| Mvk |
A |
G |
5: 114,591,022 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,355,786 (GRCm39) |
I229T |
possibly damaging |
Het |
| Napb |
A |
C |
2: 148,574,184 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
G |
2: 165,896,417 (GRCm39) |
L440R |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,103 (GRCm39) |
F193L |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,525,191 (GRCm39) |
Y376H |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 137,995,663 (GRCm39) |
M982K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,357,264 (GRCm39) |
F252I |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,037 (GRCm39) |
V188A |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,570,421 (GRCm39) |
S1300P |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,997,589 (GRCm39) |
H1104Q |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,093,715 (GRCm39) |
T143A |
possibly damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,320,680 (GRCm39) |
S111P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
| Other mutations in Adck5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Adck5
|
APN |
15 |
76,473,300 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01366:Adck5
|
APN |
15 |
76,479,816 (GRCm39) |
makesense |
probably null |
|
|
IGL01534:Adck5
|
APN |
15 |
76,478,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Adck5
|
APN |
15 |
76,479,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02615:Adck5
|
APN |
15 |
76,473,367 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02746:Adck5
|
APN |
15 |
76,473,354 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0865:Adck5
|
UTSW |
15 |
76,479,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0946:Adck5
|
UTSW |
15 |
76,477,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3714:Adck5
|
UTSW |
15 |
76,478,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Adck5
|
UTSW |
15 |
76,479,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Adck5
|
UTSW |
15 |
76,478,535 (GRCm39) |
unclassified |
probably benign |
|
|
R5343:Adck5
|
UTSW |
15 |
76,479,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5372:Adck5
|
UTSW |
15 |
76,478,707 (GRCm39) |
unclassified |
probably benign |
|
|
R5890:Adck5
|
UTSW |
15 |
76,477,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Adck5
|
UTSW |
15 |
76,478,887 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6277:Adck5
|
UTSW |
15 |
76,477,463 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6530:Adck5
|
UTSW |
15 |
76,478,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7163:Adck5
|
UTSW |
15 |
76,478,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Adck5
|
UTSW |
15 |
76,478,585 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7447:Adck5
|
UTSW |
15 |
76,479,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7685:Adck5
|
UTSW |
15 |
76,479,588 (GRCm39) |
nonsense |
probably null |
|
|
R7745:Adck5
|
UTSW |
15 |
76,478,748 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8912:Adck5
|
UTSW |
15 |
76,477,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Adck5
|
UTSW |
15 |
76,460,612 (GRCm39) |
start gained |
probably benign |
|
|
R9664:Adck5
|
UTSW |
15 |
76,478,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Adck5
|
UTSW |
15 |
76,479,542 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACCTGGACCTGACCGATCATC -3'
(R):5'- TGTGTGTCAGGATCCATCGC -3'
Sequencing Primer
(F):5'- TATATAACCTCTAGGACCTGAAGGG -3'
(R):5'- AGGATCCATCGCCTGCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation