Incidental Mutation 'IGL01145:Capn15'
| ID |
53127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn15
|
| Ensembl Gene |
ENSMUSG00000037326 |
| Gene Name |
calpain 15 |
| Synonyms |
Solh |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
IGL01145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26182024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 595
(V595A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041641]
[ENSMUST00000181174]
[ENSMUST00000212099]
[ENSMUST00000212149]
[ENSMUST00000212520]
[ENSMUST00000212789]
|
| AlphaFold |
Q9JLG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041641
AA Change: V595A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: V595A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_RBZ
|
5 |
29 |
8.92e-8 |
SMART |
|
ZnF_RBZ
|
46 |
70 |
3.46e-5 |
SMART |
|
low complexity region
|
117 |
150 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
151 |
175 |
2.28e-5 |
SMART |
|
low complexity region
|
184 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
322 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
352 |
376 |
1.21e-4 |
SMART |
|
ZnF_RBZ
|
424 |
448 |
4.78e-8 |
SMART |
|
CysPc
|
479 |
811 |
6.54e-132 |
SMART |
|
low complexity region
|
868 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
981 |
N/A |
INTRINSIC |
|
Blast:CysPc
|
982 |
1028 |
9e-21 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212099
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212149
AA Change: V595A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212520
AA Change: V661A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212789
AA Change: V595A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212702
|
| 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 protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,801,418 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
| C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
| Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
| Cyp2c66 |
G |
T |
19: 39,159,405 (GRCm39) |
E285D |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
| Eif6 |
A |
G |
2: 155,668,355 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,437,306 (GRCm39) |
I389V |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
| Gucy2d |
T |
A |
7: 98,099,170 (GRCm39) |
S329T |
probably benign |
Het |
| Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
| Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
| Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
| Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
| Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
| Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
| Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
| Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
Het |
|
| Other mutations in Capn15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01568:Capn15
|
APN |
17 |
26,184,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01724:Capn15
|
APN |
17 |
26,181,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Capn15
|
APN |
17 |
26,181,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Capn15
|
APN |
17 |
26,181,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03274:Capn15
|
APN |
17 |
26,180,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Capn15
|
UTSW |
17 |
26,184,460 (GRCm39) |
nonsense |
probably null |
|
|
R1350:Capn15
|
UTSW |
17 |
26,183,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1491:Capn15
|
UTSW |
17 |
26,183,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Capn15
|
UTSW |
17 |
26,179,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1696:Capn15
|
UTSW |
17 |
26,183,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1871:Capn15
|
UTSW |
17 |
26,183,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Capn15
|
UTSW |
17 |
26,183,837 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2295:Capn15
|
UTSW |
17 |
26,183,555 (GRCm39) |
nonsense |
probably null |
|
|
R4579:Capn15
|
UTSW |
17 |
26,178,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4658:Capn15
|
UTSW |
17 |
26,179,742 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5790:Capn15
|
UTSW |
17 |
26,183,521 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6455:Capn15
|
UTSW |
17 |
26,184,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Capn15
|
UTSW |
17 |
26,179,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6882:Capn15
|
UTSW |
17 |
26,179,153 (GRCm39) |
splice site |
probably null |
|
|
R7052:Capn15
|
UTSW |
17 |
26,180,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Capn15
|
UTSW |
17 |
26,184,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Capn15
|
UTSW |
17 |
26,179,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Capn15
|
UTSW |
17 |
26,179,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7555:Capn15
|
UTSW |
17 |
26,182,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Capn15
|
UTSW |
17 |
26,183,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8998:Capn15
|
UTSW |
17 |
26,182,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Capn15
|
UTSW |
17 |
26,192,141 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9487:Capn15
|
UTSW |
17 |
26,184,353 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9631:Capn15
|
UTSW |
17 |
26,182,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Capn15
|
UTSW |
17 |
26,182,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Capn15
|
UTSW |
17 |
26,192,194 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2013-06-21 |
Incidental Mutation