Incidental Mutation 'IGL02587:Calr4'
| ID |
299582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Calr4
|
| Ensembl Gene |
ENSMUSG00000028558 |
| Gene Name |
calreticulin 4 |
| Synonyms |
4933403L16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109091682-109111768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109096134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 104
(N104S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030285]
[ENSMUST00000106628]
[ENSMUST00000106629]
[ENSMUST00000106631]
|
| AlphaFold |
Q3TQS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030285
AA Change: N104S
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: N104S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
11 |
246 |
7e-61 |
PFAM |
|
Pfam:Calreticulin
|
243 |
318 |
1.7e-21 |
PFAM |
|
coiled coil region
|
336 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106628
|
| SMART Domains |
Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
1 |
211 |
6.4e-77 |
PFAM |
|
coiled coil region
|
229 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106629
|
| SMART Domains |
Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
1 |
211 |
6.4e-77 |
PFAM |
|
coiled coil region
|
229 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106631
|
| SMART Domains |
Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
1 |
211 |
6.4e-77 |
PFAM |
|
coiled coil region
|
229 |
309 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
| Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
Het |
|
| Other mutations in Calr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Calr4
|
APN |
4 |
109,101,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01392:Calr4
|
APN |
4 |
109,111,071 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01676:Calr4
|
APN |
4 |
109,101,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4576001:Calr4
|
UTSW |
4 |
109,093,053 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0525:Calr4
|
UTSW |
4 |
109,099,461 (GRCm39) |
splice site |
probably benign |
|
|
R1444:Calr4
|
UTSW |
4 |
109,103,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1899:Calr4
|
UTSW |
4 |
109,103,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4561:Calr4
|
UTSW |
4 |
109,103,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5001:Calr4
|
UTSW |
4 |
109,096,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5014:Calr4
|
UTSW |
4 |
109,092,994 (GRCm39) |
nonsense |
probably null |
|
|
R5088:Calr4
|
UTSW |
4 |
109,101,859 (GRCm39) |
intron |
probably benign |
|
|
R5267:Calr4
|
UTSW |
4 |
109,101,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Calr4
|
UTSW |
4 |
109,101,442 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6262:Calr4
|
UTSW |
4 |
109,108,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Calr4
|
UTSW |
4 |
109,101,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Calr4
|
UTSW |
4 |
109,099,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7202:Calr4
|
UTSW |
4 |
109,101,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7576:Calr4
|
UTSW |
4 |
109,096,161 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7661:Calr4
|
UTSW |
4 |
109,110,951 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Calr4
|
UTSW |
4 |
109,092,930 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation