Incidental Mutation 'IGL01724:Capn15'
ID |
105224 |
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 # |
IGL01724
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26181037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 705
(S705P)
|
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: S705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039528 Gene: ENSMUSG00000037326 AA Change: S705P
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
AA Change: D138G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211917
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212099
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212149
AA Change: S705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212520
AA Change: S771P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212789
AA Change: S705P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
2200002D01Rik |
C |
T |
7: 28,947,321 (GRCm39) |
|
probably null |
Het |
Abcc9 |
A |
G |
6: 142,610,259 (GRCm39) |
V635A |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
Adgrg3 |
T |
C |
8: 95,766,053 (GRCm39) |
F295L |
probably benign |
Het |
Arhgap42 |
A |
T |
9: 8,998,254 (GRCm39) |
|
probably benign |
Het |
Brd2 |
T |
A |
17: 34,335,976 (GRCm39) |
Q79L |
probably damaging |
Het |
Brd2 |
C |
A |
17: 34,335,975 (GRCm39) |
Q79H |
probably damaging |
Het |
Cebpz |
T |
A |
17: 79,243,342 (GRCm39) |
D104V |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,626,534 (GRCm39) |
I94T |
probably damaging |
Het |
Csf2rb |
C |
T |
15: 78,220,614 (GRCm39) |
A52V |
probably damaging |
Het |
Ddx27 |
T |
C |
2: 166,870,309 (GRCm39) |
L459P |
probably damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,081,077 (GRCm39) |
T2873I |
probably benign |
Het |
Emg1 |
A |
G |
6: 124,688,984 (GRCm39) |
F8S |
possibly damaging |
Het |
Fermt3 |
A |
G |
19: 6,979,143 (GRCm39) |
I553T |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,947 (GRCm39) |
D419G |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,008,912 (GRCm39) |
|
probably benign |
Het |
Hsf1 |
T |
A |
15: 76,381,037 (GRCm39) |
V122E |
possibly damaging |
Het |
Lig3 |
C |
A |
11: 82,681,448 (GRCm39) |
T480K |
possibly damaging |
Het |
Magi1 |
T |
C |
6: 93,769,381 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
T |
6: 88,863,044 (GRCm39) |
H683N |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,390,331 (GRCm39) |
A427S |
probably damaging |
Het |
Nkd1 |
T |
C |
8: 89,248,923 (GRCm39) |
F23L |
probably damaging |
Het |
Or9i2 |
G |
A |
19: 13,816,225 (GRCm39) |
T104M |
probably damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Pdx1 |
A |
T |
5: 147,211,217 (GRCm39) |
E146V |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,750,604 (GRCm39) |
T485A |
probably benign |
Het |
Slc17a4 |
A |
G |
13: 24,089,516 (GRCm39) |
Y134H |
probably benign |
Het |
Slc24a4 |
A |
T |
12: 102,185,219 (GRCm39) |
M110L |
possibly damaging |
Het |
Tent5a |
A |
G |
9: 85,207,103 (GRCm39) |
C232R |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
Uhrf2 |
T |
C |
19: 30,052,652 (GRCm39) |
V382A |
probably benign |
Het |
Vac14 |
T |
A |
8: 111,345,523 (GRCm39) |
M1K |
probably null |
Het |
Virma |
A |
G |
4: 11,528,672 (GRCm39) |
E1303G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,356,411 (GRCm39) |
V3724A |
probably benign |
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 |
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 |
2014-01-21 |