Incidental Mutation 'IGL02382:Kptn'
| ID |
291410 |
| 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 # |
IGL02382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15857945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 258
(S258T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006178]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006178
AA Change: S258T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: S258T
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
G |
1: 173,287,315 (GRCm39) |
|
probably null |
Het |
| Aoc2 |
T |
C |
11: 101,217,498 (GRCm39) |
L527P |
probably damaging |
Het |
| Arhgef15 |
C |
A |
11: 68,844,856 (GRCm39) |
R247L |
probably damaging |
Het |
| Armcx2 |
T |
C |
X: 133,706,416 (GRCm39) |
T406A |
probably benign |
Het |
| Armcx5 |
T |
C |
X: 134,647,577 (GRCm39) |
F551S |
probably damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,884,947 (GRCm39) |
K184E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,953,147 (GRCm39) |
I1534V |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,791,840 (GRCm39) |
I381K |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,165,352 (GRCm39) |
N924I |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,934 (GRCm39) |
V729A |
probably damaging |
Het |
| Dab2 |
T |
A |
15: 6,466,468 (GRCm39) |
V615D |
possibly damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,344 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Gm14406 |
C |
A |
2: 177,260,988 (GRCm39) |
|
probably benign |
Het |
| Mbnl1 |
G |
T |
3: 60,532,563 (GRCm39) |
E291* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,442,602 (GRCm39) |
L843Q |
probably damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,740,482 (GRCm39) |
N274D |
probably damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,516 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,364 (GRCm39) |
G2D |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,098,152 (GRCm39) |
V335E |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,360,722 (GRCm39) |
S331P |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,589,622 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,120,601 (GRCm39) |
T937A |
probably benign |
Het |
| Slc27a4 |
C |
T |
2: 29,699,855 (GRCm39) |
R265C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
G |
8: 48,688,511 (GRCm39) |
Y2359H |
probably damaging |
Het |
| Tnip3 |
T |
C |
6: 65,591,779 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
C |
T |
10: 115,252,781 (GRCm39) |
Q1365* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation