Incidental Mutation 'IGL02066:Adck5'
| ID |
185657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adck5
|
| Ensembl Gene |
ENSMUSG00000022550 |
| Gene Name |
aarF domain containing kinase 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76460559-76480012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76479406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 487
(V487A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000162503]
[ENSMUST00000161732]
[ENSMUST00000161612]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| 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: ENSMUST00000160410
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160784
AA Change: V487A
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: V487A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162503
AA Change: V487A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: V487A
| 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: ENSMUST00000162139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161311
|
| 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 |
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: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,626,854 (GRCm39) |
C569S |
probably damaging |
Het |
| Agfg1 |
A |
G |
1: 82,871,279 (GRCm39) |
T483A |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,236 (GRCm39) |
T82A |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,667,702 (GRCm39) |
L6Q |
probably benign |
Het |
| Anp32a |
G |
A |
9: 62,284,615 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,164,058 (GRCm39) |
R1133H |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,818,441 (GRCm39) |
A871D |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,675,185 (GRCm39) |
V624A |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,492,990 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
T |
G |
3: 144,519,216 (GRCm39) |
D320A |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,566,212 (GRCm39) |
Q201R |
possibly damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,602,602 (GRCm39) |
R99C |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,976,594 (GRCm39) |
F2875I |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,243,203 (GRCm39) |
Y246C |
probably damaging |
Het |
| Dsc1 |
A |
G |
18: 20,241,860 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
G |
A |
15: 75,768,704 (GRCm39) |
T464I |
probably benign |
Het |
| Efna2 |
C |
T |
10: 80,024,500 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Etaa1 |
C |
A |
11: 17,896,687 (GRCm39) |
V477L |
probably benign |
Het |
| Fam83d |
C |
T |
2: 158,627,793 (GRCm39) |
T494M |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,611,132 (GRCm39) |
V553M |
probably damaging |
Het |
| Gal3st2 |
A |
G |
1: 93,801,379 (GRCm39) |
T12A |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,570,175 (GRCm39) |
T373I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,912,744 (GRCm39) |
C154S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,001,091 (GRCm39) |
C2044* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,427,900 (GRCm39) |
S1564* |
probably null |
Het |
| Manea |
A |
T |
4: 26,340,965 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,438,982 (GRCm39) |
L168P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,350,408 (GRCm39) |
E2244G |
possibly damaging |
Het |
| Nsd3 |
T |
G |
8: 26,203,515 (GRCm39) |
V1343G |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,187,250 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,568,628 (GRCm39) |
I83V |
probably benign |
Het |
| Or12k5 |
A |
T |
2: 36,895,321 (GRCm39) |
F102I |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,413 (GRCm39) |
T116S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,331,241 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,736,303 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,365 (GRCm39) |
I971F |
possibly damaging |
Het |
| Ppp6c |
T |
C |
2: 39,089,683 (GRCm39) |
T199A |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,333,308 (GRCm39) |
T3A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Rptn |
A |
C |
3: 93,304,436 (GRCm39) |
S590R |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,115,482 (GRCm39) |
D947G |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,575 (GRCm39) |
T229A |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,744,719 (GRCm39) |
M423K |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,329,015 (GRCm39) |
I111N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,252,519 (GRCm39) |
L561I |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,195,358 (GRCm39) |
N222D |
probably benign |
Het |
| Spp2 |
G |
A |
1: 88,344,965 (GRCm39) |
M54I |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,940 (GRCm39) |
E847G |
possibly damaging |
Het |
| Timd2 |
T |
A |
11: 46,569,050 (GRCm39) |
N203Y |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,030,195 (GRCm39) |
D1000Y |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,663,604 (GRCm39) |
R258C |
probably damaging |
Het |
| Uts2r |
A |
C |
11: 121,051,523 (GRCm39) |
D129A |
probably damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,191 (GRCm39) |
M585I |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,836 (GRCm39) |
R518* |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,871,523 (GRCm39) |
R296K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,356,415 (GRCm39) |
K3725N |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,727,036 (GRCm39) |
S142P |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,678 (GRCm39) |
H372R |
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 |
|
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 |
|
|
R4377: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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation