Incidental Mutation 'R6408:Capn13'
| ID |
514563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
044553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 73672954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 116
(Y116*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095208
AA Change: Y116*
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: Y116*
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
12 |
337 |
3.23e-113 |
SMART |
|
Pfam:Calpain_III
|
341 |
473 |
2e-13 |
PFAM |
|
SCOP:d1k94a_
|
512 |
664 |
3e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.2%
|
| Validation Efficiency |
94% (45/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,691,858 (GRCm39) |
S50P |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,949,307 (GRCm39) |
V1068A |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,470,412 (GRCm39) |
|
probably null |
Het |
| Amer2 |
T |
C |
14: 60,617,674 (GRCm39) |
I497T |
probably damaging |
Het |
| Azi2 |
A |
T |
9: 117,890,550 (GRCm39) |
R51* |
probably null |
Het |
| Brdt |
A |
G |
5: 107,533,358 (GRCm39) |
D946G |
probably damaging |
Het |
| Bzw2 |
C |
T |
12: 36,157,524 (GRCm39) |
V314I |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,625,036 (GRCm39) |
I485T |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,316,053 (GRCm39) |
T1130S |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,299,014 (GRCm39) |
V3220M |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,770,173 (GRCm39) |
L514Q |
probably damaging |
Het |
| D7Ertd443e |
G |
T |
7: 133,951,440 (GRCm39) |
Q31K |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,831,355 (GRCm39) |
E8G |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,391,819 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,066,430 (GRCm39) |
M988V |
possibly damaging |
Het |
| Dlx4 |
A |
G |
11: 95,036,078 (GRCm39) |
V77A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,191 (GRCm39) |
|
probably null |
Het |
| Drc1 |
A |
G |
5: 30,513,632 (GRCm39) |
E396G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,323,899 (GRCm39) |
L568S |
probably benign |
Het |
| Gjb5 |
A |
T |
4: 127,249,940 (GRCm39) |
F68Y |
probably benign |
Het |
| Hs6st3 |
C |
A |
14: 119,376,046 (GRCm39) |
P74T |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,133 (GRCm39) |
L1743P |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,307 (GRCm39) |
C48S |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,654 (GRCm39) |
H245R |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,798,184 (GRCm39) |
E93G |
probably benign |
Het |
| Mettl6 |
T |
C |
14: 31,201,683 (GRCm39) |
E253G |
probably damaging |
Het |
| Nmu |
A |
T |
5: 76,491,818 (GRCm39) |
F106Y |
probably damaging |
Het |
| Pcsk7 |
T |
C |
9: 45,820,994 (GRCm39) |
I142T |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,536,939 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
G |
T |
17: 34,404,707 (GRCm39) |
A19E |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,456 (GRCm39) |
M454T |
probably benign |
Het |
| Raet1e |
A |
G |
10: 22,056,645 (GRCm39) |
T74A |
probably benign |
Het |
| Ralb |
A |
C |
1: 119,405,839 (GRCm39) |
Y43* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,730,695 (GRCm39) |
E1947* |
probably null |
Het |
| Rnf26rt |
A |
G |
6: 76,473,441 (GRCm39) |
C392R |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,768,934 (GRCm39) |
Y500H |
probably benign |
Het |
| Shroom1 |
A |
C |
11: 53,354,214 (GRCm39) |
T45P |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,142,328 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,356,706 (GRCm39) |
R170G |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,164 (GRCm39) |
V888A |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,441,980 (GRCm39) |
D204V |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,666,643 (GRCm39) |
I388M |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,624 (GRCm39) |
A39D |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,229 (GRCm39) |
E180* |
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,563 (GRCm39) |
D63G |
probably benign |
Het |
| Zfp282 |
G |
A |
6: 47,857,319 (GRCm39) |
R184Q |
probably damaging |
Het |
|
| Other mutations in Capn13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Capn13
|
APN |
17 |
73,646,420 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01099:Capn13
|
APN |
17 |
73,658,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01613:Capn13
|
APN |
17 |
73,638,053 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02215:Capn13
|
APN |
17 |
73,637,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Capn13
|
APN |
17 |
73,658,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02877:Capn13
|
APN |
17 |
73,629,050 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03113:Capn13
|
APN |
17 |
73,638,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03246:Capn13
|
APN |
17 |
73,689,855 (GRCm39) |
missense |
probably benign |
|
|
IGL03369:Capn13
|
APN |
17 |
73,648,149 (GRCm39) |
splice site |
probably benign |
|
|
R0116:Capn13
|
UTSW |
17 |
73,658,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Capn13
|
UTSW |
17 |
73,629,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0746:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0778:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1252:Capn13
|
UTSW |
17 |
73,674,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1594:Capn13
|
UTSW |
17 |
73,658,474 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1641:Capn13
|
UTSW |
17 |
73,689,889 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1895:Capn13
|
UTSW |
17 |
73,657,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1902:Capn13
|
UTSW |
17 |
73,633,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Capn13
|
UTSW |
17 |
73,657,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2184:Capn13
|
UTSW |
17 |
73,672,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Capn13
|
UTSW |
17 |
73,633,312 (GRCm39) |
splice site |
probably benign |
|
|
R2963:Capn13
|
UTSW |
17 |
73,622,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3755:Capn13
|
UTSW |
17 |
73,638,114 (GRCm39) |
nonsense |
probably null |
|
|
R3759:Capn13
|
UTSW |
17 |
73,629,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3795:Capn13
|
UTSW |
17 |
73,644,387 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3801:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3802:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3803:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3804:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Capn13
|
UTSW |
17 |
73,644,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4194:Capn13
|
UTSW |
17 |
73,646,479 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4326:Capn13
|
UTSW |
17 |
73,638,103 (GRCm39) |
missense |
probably benign |
|
|
R4788:Capn13
|
UTSW |
17 |
73,644,427 (GRCm39) |
nonsense |
probably null |
|
|
R4852:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R4853:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R4855:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R5063:Capn13
|
UTSW |
17 |
73,629,074 (GRCm39) |
nonsense |
probably null |
|
|
R5112:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R5438:Capn13
|
UTSW |
17 |
73,633,479 (GRCm39) |
missense |
probably benign |
|
|
R5955:Capn13
|
UTSW |
17 |
73,637,997 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6512:Capn13
|
UTSW |
17 |
73,689,985 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7425:Capn13
|
UTSW |
17 |
73,625,053 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7605:Capn13
|
UTSW |
17 |
73,652,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7678:Capn13
|
UTSW |
17 |
73,622,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Capn13
|
UTSW |
17 |
73,629,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7791:Capn13
|
UTSW |
17 |
73,689,883 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8087:Capn13
|
UTSW |
17 |
73,623,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Capn13
|
UTSW |
17 |
73,689,849 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8122:Capn13
|
UTSW |
17 |
73,674,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R8927:Capn13
|
UTSW |
17 |
73,631,761 (GRCm39) |
splice site |
probably null |
|
|
R9193:Capn13
|
UTSW |
17 |
73,652,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R9337:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R9497:Capn13
|
UTSW |
17 |
73,633,362 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9509:Capn13
|
UTSW |
17 |
73,644,446 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9616:Capn13
|
UTSW |
17 |
73,672,964 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Capn13
|
UTSW |
17 |
73,648,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTGGGCCATTAAAACAAAAC -3'
(R):5'- AGGGAGATTTGATATACAGAACCC -3'
Sequencing Primer
(F):5'- TGGGCCATTAAAACAAAACAAAAC -3'
(R):5'- CCATAAAATTTAGGGGGTGGGGTTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation