Incidental Mutation 'IGL01938:Kptn'
ID |
180761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kptn
|
Ensembl Gene |
ENSMUSG00000006021 |
Gene Name |
kaptin |
Synonyms |
2E4, actin-binding protein, C030013F01Rik, 2310042D10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01938
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15858714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 286
(Y286C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006178]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006178
AA Change: Y286C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006178 Gene: ENSMUSG00000006021 AA Change: Y286C
Domain | Start | End | E-Value | Type |
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152044
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
probably benign |
Het |
|
Other mutations in Kptn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Kptn
|
APN |
7 |
15,854,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01844:Kptn
|
APN |
7 |
15,857,897 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02268:Kptn
|
APN |
7 |
15,857,786 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02382:Kptn
|
APN |
7 |
15,857,945 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02399:Kptn
|
APN |
7 |
15,861,038 (GRCm39) |
unclassified |
probably benign |
|
IGL03237:Kptn
|
APN |
7 |
15,854,050 (GRCm39) |
missense |
probably damaging |
0.97 |
captain
|
UTSW |
7 |
15,859,709 (GRCm39) |
missense |
probably damaging |
1.00 |
commander
|
UTSW |
7 |
15,859,710 (GRCm39) |
nonsense |
probably null |
|
Mate
|
UTSW |
7 |
15,857,028 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4687001:Kptn
|
UTSW |
7 |
15,859,751 (GRCm39) |
missense |
probably damaging |
0.96 |
R0344:Kptn
|
UTSW |
7 |
15,859,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R0726:Kptn
|
UTSW |
7 |
15,854,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R1421:Kptn
|
UTSW |
7 |
15,856,949 (GRCm39) |
splice site |
probably benign |
|
R1545:Kptn
|
UTSW |
7 |
15,857,888 (GRCm39) |
missense |
probably benign |
0.12 |
R2357:Kptn
|
UTSW |
7 |
15,859,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Kptn
|
UTSW |
7 |
15,857,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5127:Kptn
|
UTSW |
7 |
15,859,710 (GRCm39) |
nonsense |
probably null |
|
R5195:Kptn
|
UTSW |
7 |
15,857,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5714:Kptn
|
UTSW |
7 |
15,854,683 (GRCm39) |
splice site |
probably null |
|
R7121:Kptn
|
UTSW |
7 |
15,857,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R7213:Kptn
|
UTSW |
7 |
15,854,704 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7849:Kptn
|
UTSW |
7 |
15,853,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R7978:Kptn
|
UTSW |
7 |
15,859,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8139:Kptn
|
UTSW |
7 |
15,857,901 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Kptn
|
UTSW |
7 |
15,856,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |