Incidental Mutation 'R5127:Kptn'
ID |
394817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kptn
|
Ensembl Gene |
ENSMUSG00000006021 |
Gene Name |
kaptin |
Synonyms |
2E4, actin-binding protein, C030013F01Rik, 2310042D10Rik |
MMRRC Submission |
042715-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5127 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15853820-15861441 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 15859710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 311
(C311*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006178]
[ENSMUST00000211649]
[ENSMUST00000168693]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000006178
AA Change: C311*
|
SMART Domains |
Protein: ENSMUSP00000006178 Gene: ENSMUSG00000006021 AA Change: C311*
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: ENSMUST00000152044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211649
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168693
|
SMART Domains |
Protein: ENSMUSP00000128926 Gene: ENSMUSG00000030376
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
74 |
245 |
8.6e-35 |
PFAM |
Pfam:Na_Ca_ex_C
|
248 |
378 |
7.8e-50 |
PFAM |
Calx_beta
|
383 |
483 |
3.27e-47 |
SMART |
Calx_beta
|
512 |
612 |
3.37e-49 |
SMART |
low complexity region
|
704 |
717 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
747 |
912 |
2.5e-27 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
93% (42/45) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
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 |
|
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 |
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'- GATGAACACTCGAGGCCAAC -3'
(R):5'- ATAGCAGAGCAGCTCCTGTG -3'
Sequencing Primer
(F):5'- TCAGGAGTGAGTCTGGACCTCAG -3'
(R):5'- TCCTGTGGGGAGAGGGGC -3'
|
Posted On |
2016-06-21 |