Incidental Mutation 'IGL03237:Kptn'
| ID |
414112 |
| 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 # |
IGL03237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15854050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 56
(D56V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006178]
[ENSMUST00000006181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006178
AA Change: D56V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: D56V
| 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: ENSMUST00000149388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149255
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
| Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
| Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
| Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
| Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
| Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,792 (GRCm39) |
E180G |
probably benign |
Het |
| Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,632,460 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
| Klhl41 |
T |
C |
2: 69,500,902 (GRCm39) |
V121A |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,250,512 (GRCm39) |
V380M |
probably damaging |
Het |
| Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
| Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
| Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
| Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
| Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
| Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,030,332 (GRCm39) |
D170E |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
| Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
| Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
| Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation