Incidental Mutation 'ANU74:Capn15'
| ID |
262730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn15
|
| Ensembl Gene |
ENSMUSG00000037326 |
| Gene Name |
calpain 15 |
| Synonyms |
Solh |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
ANU74
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26177338-26204753 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 26184460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 7
(W7*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041641]
[ENSMUST00000181174]
[ENSMUST00000212099]
[ENSMUST00000212149]
[ENSMUST00000212520]
[ENSMUST00000212789]
|
| AlphaFold |
Q9JLG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041641
AA Change: W7*
|
| SMART Domains |
Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: W7*
| 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 null
Transcript: ENSMUST00000212099
AA Change: W7*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212149
AA Change: W7*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212520
AA Change: W73*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212789
AA Change: W7*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212735
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
A |
5: 50,118,380 (GRCm39) |
S1056L |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,529,736 (GRCm39) |
D236E |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,319,815 (GRCm39) |
T999M |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,069 (GRCm39) |
M912K |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,409 (GRCm39) |
D197G |
unknown |
Het |
| Csf1r |
A |
G |
18: 61,250,463 (GRCm39) |
E431G |
probably benign |
Het |
| Eloc |
A |
G |
1: 16,713,574 (GRCm39) |
F115L |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,378,113 (GRCm39) |
D193G |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,162 (GRCm39) |
Y210H |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,802 (GRCm39) |
T4R |
probably benign |
Het |
| Grb2 |
A |
T |
11: 115,536,733 (GRCm39) |
D131E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,964,853 (GRCm39) |
T658A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,627 (GRCm39) |
E1289G |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,560 (GRCm39) |
N92D |
possibly damaging |
Het |
| Irf8 |
A |
C |
8: 121,466,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
GC |
"GCCTCCACCCGGCGGTC,GCC" |
4: 63,089,663 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
C |
1: 153,007,581 (GRCm39) |
D864E |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,863 (GRCm39) |
V1475A |
probably damaging |
Het |
| Mapk8ip3 |
A |
C |
17: 25,119,551 (GRCm39) |
M1030R |
possibly damaging |
Het |
| Mat1a |
A |
G |
14: 40,833,099 (GRCm39) |
D94G |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,993,295 (GRCm39) |
D1643E |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,769,239 (GRCm39) |
F55L |
probably damaging |
Het |
| Nhlh2 |
A |
T |
3: 101,919,970 (GRCm39) |
M1L |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,978 (GRCm39) |
S1836P |
probably damaging |
Het |
| Olr1 |
G |
A |
6: 129,477,032 (GRCm39) |
R78C |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Pam16 |
C |
A |
16: 4,434,497 (GRCm39) |
V98F |
probably damaging |
Het |
| Pelp1 |
C |
T |
11: 70,285,913 (GRCm39) |
V652I |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,437,236 (GRCm39) |
H67R |
probably benign |
Het |
| Rbms1 |
G |
T |
2: 60,628,060 (GRCm39) |
A60E |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,589,957 (GRCm39) |
M789K |
possibly damaging |
Het |
| Rrn3 |
T |
C |
16: 13,629,397 (GRCm39) |
F571S |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,575 (GRCm39) |
|
probably null |
Het |
| Sec61b |
C |
A |
4: 47,474,922 (GRCm39) |
N26K |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,395,938 (GRCm39) |
E284G |
probably benign |
Het |
| Slc30a9 |
G |
A |
5: 67,507,195 (GRCm39) |
D496N |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,554 (GRCm39) |
R249H |
probably damaging |
Het |
| Slc6a13 |
A |
C |
6: 121,311,835 (GRCm39) |
D404A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,456 (GRCm39) |
E225G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,893 (GRCm39) |
G1351S |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,890,310 (GRCm39) |
V691A |
probably damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,149 (GRCm39) |
R738Q |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,027,454 (GRCm39) |
I506N |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,452,264 (GRCm39) |
T113I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,366,910 (GRCm39) |
S437T |
probably benign |
Het |
| Vmn2r78 |
G |
C |
7: 86,570,273 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp956 |
T |
G |
6: 47,940,507 (GRCm39) |
Y289D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGAGGCAATGACAGTTTCCG -3'
(R):5'- CAGTTTGTACGTCAGTGGCCTAGAG -3'
Sequencing Primer
(F):5'- ccttttcttcttcttctcctctttc -3'
(R):5'- AGTGGCCTAGAGCCGAATC -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation