Incidental Mutation 'IGL01392:Calr4'
ID |
79267 |
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 # |
IGL01392
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
109091682-109111768 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109111071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 272
(E272G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030285]
[ENSMUST00000106628]
[ENSMUST00000106629]
[ENSMUST00000106631]
|
AlphaFold |
Q3TQS0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030285
AA Change: E379G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000030285 Gene: ENSMUSG00000028558 AA Change: E379G
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
AA Change: E272G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102239 Gene: ENSMUSG00000028558 AA Change: E272G
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
AA Change: E272G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102240 Gene: ENSMUSG00000028558 AA Change: E272G
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
AA Change: E272G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102242 Gene: ENSMUSG00000028558 AA Change: E272G
Domain | Start | End | E-Value | Type |
Pfam:Calreticulin
|
1 |
211 |
6.4e-77 |
PFAM |
coiled coil region
|
229 |
309 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141555
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
Eri3 |
T |
C |
4: 117,446,356 (GRCm39) |
|
probably null |
Het |
Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
Gm7168 |
G |
A |
17: 14,169,169 (GRCm39) |
D179N |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
Or5b95 |
T |
A |
19: 12,658,167 (GRCm39) |
Y232N |
probably benign |
Het |
Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,369,737 (GRCm39) |
V86A |
probably damaging |
Het |
Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
T |
A |
7: 43,240,554 (GRCm39) |
F714Y |
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 |
IGL01676:Calr4
|
APN |
4 |
109,101,447 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02587:Calr4
|
APN |
4 |
109,096,134 (GRCm39) |
missense |
possibly damaging |
0.76 |
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 |
2013-11-05 |