Incidental Mutation 'IGL00401:Kptn'
| ID |
5327 |
| 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 # |
IGL00401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15854050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 56
(D56G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006178]
[ENSMUST00000006181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006178
AA Change: D56G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: D56G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006181
|
| SMART Domains |
Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149388
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
| Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
| Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
| Dapk2 |
G |
T |
9: 66,176,060 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
| Foxq1 |
A |
T |
13: 31,743,260 (GRCm39) |
I121F |
probably damaging |
Het |
| Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,389,782 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
| Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
| Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Mettl3 |
T |
A |
14: 52,534,424 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
| Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
| Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
| Usp46 |
C |
A |
5: 74,163,832 (GRCm39) |
V302F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
Het |
|
| Other mutations in Kptn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01844:Kptn
|
APN |
7 |
15,857,897 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01938:Kptn
|
APN |
7 |
15,858,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation