Incidental Mutation 'R8998:Capn15'
| ID |
690302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn15
|
| Ensembl Gene |
ENSMUSG00000037326 |
| Gene Name |
calpain 15 |
| Synonyms |
Solh |
| MMRRC Submission |
068829-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R8998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26182055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 651
(R651C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148486
(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: R585C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: R585C
| 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 |
probably benign
Transcript: ENSMUST00000181174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212099
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212149
AA Change: R585C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212520
AA Change: R651C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212789
AA Change: R585C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,033,051 (GRCm39) |
K575R |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,726 (GRCm39) |
*1475R |
probably null |
Het |
| Baz2b |
T |
C |
2: 59,799,608 (GRCm39) |
D237G |
probably benign |
Het |
| Cacna2d4 |
A |
C |
6: 119,219,876 (GRCm39) |
Q215H |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,654 (GRCm39) |
E357G |
probably damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,471 (GRCm39) |
V29A |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,938,157 (GRCm39) |
T170A |
possibly damaging |
Het |
| D330020A13Rik |
A |
G |
6: 120,271,890 (GRCm39) |
T189A |
unknown |
Het |
| Emsy |
C |
A |
7: 98,268,512 (GRCm39) |
V524F |
possibly damaging |
Het |
| Eppk1 |
T |
A |
15: 75,980,765 (GRCm39) |
N3315I |
probably damaging |
Het |
| Erich2 |
T |
G |
2: 70,361,964 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,365 (GRCm39) |
D529G |
probably damaging |
Het |
| Gbx2 |
C |
A |
1: 89,856,745 (GRCm39) |
G215V |
possibly damaging |
Het |
| Gzmd |
T |
A |
14: 56,368,144 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,840,109 (GRCm39) |
T336M |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,772,455 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif20b |
G |
A |
19: 34,914,253 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,733,174 (GRCm39) |
M2381T |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,933 (GRCm39) |
C257S |
unknown |
Het |
| Met |
C |
T |
6: 17,491,534 (GRCm39) |
R99W |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,449,629 (GRCm39) |
R611G |
probably null |
Het |
| Or10a3b |
A |
C |
7: 108,445,017 (GRCm39) |
S67A |
probably benign |
Het |
| Or4b1d |
C |
T |
2: 89,969,472 (GRCm39) |
V4I |
probably benign |
Het |
| Or8b1c |
T |
C |
9: 38,384,787 (GRCm39) |
V248A |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,189 (GRCm39) |
Y277F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,510 (GRCm39) |
I2123V |
unknown |
Het |
| Phf10 |
G |
C |
17: 15,170,883 (GRCm39) |
A350G |
probably benign |
Het |
| Pira2 |
T |
C |
7: 3,845,490 (GRCm39) |
Y298C |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,434,425 (GRCm39) |
Y2338N |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,788,957 (GRCm39) |
L1120F |
possibly damaging |
Het |
| Safb2 |
A |
T |
17: 56,870,391 (GRCm39) |
H934Q |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,775,346 (GRCm38) |
L884Q |
probably damaging |
Het |
| Smc4 |
A |
C |
3: 68,934,894 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,935,706 (GRCm39) |
V311A |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,176 (GRCm39) |
V17A |
unknown |
Het |
| Tenm3 |
T |
C |
8: 48,729,722 (GRCm39) |
Y1428C |
probably damaging |
Het |
| Tent4b |
A |
G |
8: 88,977,350 (GRCm39) |
H384R |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,609,775 (GRCm39) |
D69G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,658,277 (GRCm39) |
K12368E |
unknown |
Het |
| Usp17le |
T |
C |
7: 104,417,969 (GRCm39) |
D391G |
probably benign |
Het |
| Usp28 |
G |
A |
9: 48,949,139 (GRCm39) |
R911Q |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 101,993,058 (GRCm39) |
S3274R |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,997,371 (GRCm39) |
V976A |
probably benign |
Het |
| Zfp334 |
A |
G |
2: 165,223,408 (GRCm39) |
S212P |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATAGATGGCCTGGTTTCTC -3'
(R):5'- ATCAACTGCTCTGTCTTCAGG -3'
Sequencing Primer
(F):5'- CTAACCCTACCTCCCACCTTG -3'
(R):5'- TCTGACATCCTACAGGGGCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation