Incidental Mutation 'R1421:Kptn'
| ID |
159811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kptn
|
| Ensembl Gene |
ENSMUSG00000006021 |
| Gene Name |
kaptin |
| Synonyms |
2E4, actin-binding protein, C030013F01Rik, 2310042D10Rik |
| MMRRC Submission |
039477-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 15856949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
96% (54/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcf1 |
G |
A |
17: 36,271,801 (GRCm39) |
A375V |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,784 (GRCm39) |
H631Q |
possibly damaging |
Het |
| Adcy10 |
T |
C |
1: 165,391,516 (GRCm39) |
S1258P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,643,389 (GRCm39) |
I717T |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,995 (GRCm39) |
F4760I |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,266 (GRCm39) |
K122R |
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,563,631 (GRCm39) |
C201R |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,714,080 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,110,291 (GRCm39) |
I331K |
probably damaging |
Het |
| Coq8a |
A |
G |
1: 179,998,006 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,942,511 (GRCm39) |
V662A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,803,910 (GRCm39) |
M1667K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,580,032 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,468,513 (GRCm39) |
Y251F |
probably damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,011 (GRCm39) |
M133K |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,624 (GRCm39) |
Y322H |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,966,982 (GRCm39) |
H67L |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,037,217 (GRCm39) |
K253* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,365,215 (GRCm39) |
T598A |
probably benign |
Het |
| Gramd1a |
T |
A |
7: 30,842,291 (GRCm39) |
Q90L |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,309,960 (GRCm39) |
Y352C |
probably damaging |
Het |
| Ifi203-ps |
T |
C |
1: 173,625,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ifitm2 |
T |
C |
7: 140,534,972 (GRCm39) |
I121V |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,960 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,748,092 (GRCm39) |
D345N |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,079 (GRCm39) |
H6R |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,110,475 (GRCm39) |
I116V |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,681 (GRCm39) |
D366G |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,512,748 (GRCm39) |
E104G |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Parp1 |
T |
C |
1: 180,427,653 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,310,470 (GRCm39) |
G1919D |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,126,765 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,090,990 (GRCm39) |
S454F |
possibly damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,851,183 (GRCm39) |
S360P |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,336,085 (GRCm39) |
I352N |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,952,759 (GRCm39) |
G197D |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,221 (GRCm39) |
V209A |
probably benign |
Het |
| Taf7l2 |
A |
G |
10: 115,949,343 (GRCm39) |
V61A |
probably damaging |
Het |
| Tex36 |
A |
T |
7: 133,197,078 (GRCm39) |
|
probably null |
Het |
| Tnnt3 |
A |
G |
7: 142,065,103 (GRCm39) |
E108G |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,440 (GRCm39) |
F87I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,716 (GRCm39) |
I479T |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,349,636 (GRCm39) |
N22D |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp735 |
C |
A |
11: 73,601,523 (GRCm39) |
L156I |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,861 (GRCm39) |
Y156N |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGTGAATCTCTGGATGTCAGC -3'
(R):5'- GATGGAGTCAGTTAGCAGCCACAG -3'
Sequencing Primer
(F):5'- CTGGGCATAAgaggtacaggtaag -3'
(R):5'- TTAGCAGCCACAGGCCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation