Incidental Mutation 'R6639:Capn15'
ID |
525689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn15
|
Ensembl Gene |
ENSMUSG00000037326 |
Gene Name |
calpain 15 |
Synonyms |
Solh |
MMRRC Submission |
044760-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R6639 (G1)
|
Quality Score |
115.008 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26179152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 940
(V940I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041641]
[ENSMUST00000181174]
[ENSMUST00000212099]
[ENSMUST00000212149]
[ENSMUST00000212520]
[ENSMUST00000212789]
|
AlphaFold |
Q9JLG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041641
AA Change: V940I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000039528 Gene: ENSMUSG00000037326 AA Change: V940I
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 benign
Transcript: ENSMUST00000212149
AA Change: V940I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212520
AA Change: V1041I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212702
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
100% (34/34) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGAGTCAGGTAATAGCAGGTC -3'
(R):5'- TGCCTTCAACCACTGGAACC -3'
Sequencing Primer
(F):5'- AGGTCATGCCCTCTCGAC -3'
(R):5'- TGGAACCCTGCTCCACCAG -3'
|
Posted On |
2018-06-22 |