Incidental Mutation 'IGL02700:Capn15'
| ID |
304088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn15
|
| Ensembl Gene |
ENSMUSG00000037326 |
| Gene Name |
calpain 15 |
| Synonyms |
Solh |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
IGL02700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26181982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 609
(D609G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148393
(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: D609G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: D609G
| 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: D609G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212520
AA Change: D675G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212789
AA Change: D609G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212735
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,262,161 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
G |
5: 114,356,942 (GRCm39) |
Y1291C |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,676,233 (GRCm39) |
C179Y |
probably damaging |
Het |
| Cnnm3 |
T |
A |
1: 36,552,189 (GRCm39) |
F400I |
probably damaging |
Het |
| Dst |
A |
C |
1: 34,301,201 (GRCm39) |
E1189A |
probably damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,306,780 (GRCm39) |
T315I |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,161 (GRCm39) |
I147V |
possibly damaging |
Het |
| Hk1 |
T |
C |
10: 62,120,590 (GRCm39) |
N536D |
probably damaging |
Het |
| Klhl5 |
C |
T |
5: 65,288,773 (GRCm39) |
Q12* |
probably null |
Het |
| Lgals12 |
C |
T |
19: 7,575,455 (GRCm39) |
A294T |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,199,636 (GRCm39) |
N1028S |
probably benign |
Het |
| Mki67 |
G |
T |
7: 135,309,931 (GRCm39) |
S173R |
probably benign |
Het |
| Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
| Obox5 |
A |
G |
7: 15,492,888 (GRCm39) |
D281G |
possibly damaging |
Het |
| Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,025,330 (GRCm39) |
I494N |
probably damaging |
Het |
| Pax5 |
G |
T |
4: 44,682,722 (GRCm39) |
T141K |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,687,662 (GRCm39) |
N230S |
probably benign |
Het |
| Rab3gap1 |
G |
T |
1: 127,866,342 (GRCm39) |
A841S |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,802 (GRCm39) |
L204P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snca |
G |
A |
6: 60,804,521 (GRCm39) |
T22I |
possibly damaging |
Het |
| Syvn1 |
A |
G |
19: 6,097,973 (GRCm39) |
T4A |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,702,883 (GRCm39) |
S579R |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,964,129 (GRCm39) |
S94P |
probably damaging |
Het |
|
| Other mutations in Capn15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01145:Capn15
|
APN |
17 |
26,182,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation