Incidental Mutation 'R9193:Capn13'
ID |
697840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn13
|
Ensembl Gene |
ENSMUSG00000043705 |
Gene Name |
calpain 13 |
Synonyms |
LOC381122 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R9193 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73652191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 266
(I266N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
AlphaFold |
Q3UW68 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095208
AA Change: I266N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092832 Gene: ENSMUSG00000043705 AA Change: I266N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak1 |
A |
T |
2: 32,520,391 (GRCm39) |
K79M |
probably benign |
Het |
Amy1 |
T |
C |
3: 113,356,278 (GRCm39) |
K293E |
probably benign |
Het |
Bcl2l10 |
A |
G |
9: 75,255,333 (GRCm39) |
Q50R |
probably benign |
Het |
Bpifa6 |
G |
A |
2: 153,826,740 (GRCm39) |
G35D |
probably benign |
Het |
Cachd1 |
C |
A |
4: 100,634,339 (GRCm39) |
P5Q |
unknown |
Het |
Chil3 |
A |
G |
3: 106,063,081 (GRCm39) |
S170P |
possibly damaging |
Het |
Ckap4 |
A |
G |
10: 84,363,350 (GRCm39) |
I571T |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,242,964 (GRCm39) |
M371V |
unknown |
Het |
Dag1 |
A |
G |
9: 108,085,467 (GRCm39) |
L558P |
possibly damaging |
Het |
Edem3 |
G |
A |
1: 151,694,270 (GRCm39) |
E868K |
probably benign |
Het |
Eif3k |
T |
C |
7: 28,673,624 (GRCm39) |
Y150C |
probably damaging |
Het |
Farp1 |
T |
C |
14: 121,518,281 (GRCm39) |
I988T |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,910,248 (GRCm39) |
M1918T |
probably benign |
Het |
Gba2 |
A |
G |
4: 43,578,112 (GRCm39) |
I79T |
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,179,169 (GRCm39) |
D110G |
probably damaging |
Het |
Gm57858 |
G |
T |
3: 36,089,428 (GRCm39) |
N165K |
probably benign |
Het |
H2-M2 |
T |
A |
17: 37,793,428 (GRCm39) |
M193L |
probably benign |
Het |
H2-T13 |
A |
G |
17: 36,391,956 (GRCm39) |
V39A |
possibly damaging |
Het |
Ighv7-1 |
T |
A |
12: 113,860,110 (GRCm39) |
D94V |
probably damaging |
Het |
Il2ra |
T |
C |
2: 11,689,202 (GRCm39) |
F244L |
possibly damaging |
Het |
Jag1 |
A |
T |
2: 136,931,764 (GRCm39) |
H602Q |
probably null |
Het |
Kidins220 |
A |
T |
12: 25,036,966 (GRCm39) |
I16F |
possibly damaging |
Het |
Klb |
A |
G |
5: 65,529,368 (GRCm39) |
T299A |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,951,444 (GRCm39) |
K1063R |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,550 (GRCm39) |
E538G |
possibly damaging |
Het |
Lrrc7 |
A |
T |
3: 158,059,011 (GRCm39) |
L32* |
probably null |
Het |
Lrrtm3 |
A |
T |
10: 63,765,883 (GRCm39) |
I568N |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,343,295 (GRCm39) |
D164G |
probably damaging |
Het |
Naaladl2 |
T |
C |
3: 23,900,742 (GRCm39) |
D696G |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,545,792 (GRCm39) |
L1073* |
probably null |
Het |
Nid2 |
T |
C |
14: 19,853,278 (GRCm39) |
S1166P |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,095,621 (GRCm39) |
V833A |
probably benign |
Het |
Nyap2 |
T |
C |
1: 81,275,712 (GRCm39) |
S619P |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,867,878 (GRCm39) |
M118V |
probably damaging |
Het |
Or2a20 |
A |
T |
6: 43,194,086 (GRCm39) |
T80S |
probably benign |
Het |
Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
Or8k16 |
C |
A |
2: 85,520,644 (GRCm39) |
Y290* |
probably null |
Het |
P3h2 |
T |
C |
16: 25,923,991 (GRCm39) |
N148S |
probably benign |
Het |
P4htm |
A |
G |
9: 108,460,081 (GRCm39) |
M231T |
probably damaging |
Het |
Pank1 |
T |
A |
19: 34,804,634 (GRCm39) |
K349I |
possibly damaging |
Het |
Pgam5 |
A |
G |
5: 110,413,466 (GRCm39) |
Y210H |
probably benign |
Het |
Prb1b |
T |
C |
6: 132,288,996 (GRCm39) |
H276R |
unknown |
Het |
Prl2a1 |
T |
A |
13: 27,992,535 (GRCm39) |
C220S |
probably damaging |
Het |
Psca |
C |
T |
15: 74,587,932 (GRCm39) |
Q39* |
probably null |
Het |
Rgs20 |
A |
T |
1: 5,091,067 (GRCm39) |
M121K |
possibly damaging |
Het |
S100z |
C |
T |
13: 95,613,883 (GRCm39) |
V76M |
possibly damaging |
Het |
Slc30a10 |
T |
C |
1: 185,195,034 (GRCm39) |
I282T |
probably damaging |
Het |
Slc30a3 |
T |
C |
5: 31,246,088 (GRCm39) |
Y214C |
probably damaging |
Het |
Sox5 |
C |
T |
6: 143,790,570 (GRCm39) |
E497K |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,971,519 (GRCm39) |
D284G |
probably benign |
Het |
Sptbn1 |
C |
T |
11: 30,087,551 (GRCm39) |
E963K |
possibly damaging |
Het |
Srl |
T |
C |
16: 4,311,723 (GRCm39) |
E465G |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,228,304 (GRCm39) |
M1663T |
probably benign |
Het |
Tas2r119 |
T |
G |
15: 32,177,932 (GRCm39) |
V166G |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,611,205 (GRCm39) |
V191A |
probably damaging |
Het |
Thap7 |
A |
T |
16: 17,346,901 (GRCm39) |
I92K |
probably damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,371,407 (GRCm39) |
T38A |
possibly damaging |
Het |
Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
Trim30c |
C |
T |
7: 104,031,553 (GRCm39) |
V421I |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,571,729 (GRCm39) |
M101K |
probably benign |
Het |
Vmn1r44 |
T |
A |
6: 89,870,565 (GRCm39) |
C104S |
probably damaging |
Het |
Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,580,600 (GRCm39) |
Y33F |
possibly 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 |
R6408:Capn13
|
UTSW |
17 |
73,672,954 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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'- ACCCAGAGCCATAACTAGTGAT -3'
(R):5'- GGCAGCAAGAGAGACATTGATT -3'
Sequencing Primer
(F):5'- CTAGTGATGAACTGGTCAGACCTG -3'
(R):5'- GTCCTCCTCCTCGTCCTCG -3'
|
Posted On |
2022-02-07 |