Incidental Mutation 'IGL01676:Calr4'
| ID |
103654 |
| 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 # |
IGL01676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109091682-109111768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109101447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 110
(K110E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030285]
[ENSMUST00000106628]
[ENSMUST00000106629]
[ENSMUST00000106631]
|
| AlphaFold |
Q3TQS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030285
AA Change: K217E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: K217E
| 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 damaging
Transcript: ENSMUST00000106628
AA Change: K110E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: K110E
| 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 damaging
Transcript: ENSMUST00000106629
AA Change: K110E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: K110E
| 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 damaging
Transcript: ENSMUST00000106631
AA Change: K110E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: K110E
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
| Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
| Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,779,336 (GRCm39) |
I16N |
probably damaging |
Het |
| Ddx19a |
A |
G |
8: 111,707,621 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
| Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,070,865 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,897 (GRCm39) |
G324V |
probably damaging |
Het |
| Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
| Prop1 |
T |
A |
11: 50,842,956 (GRCm39) |
Q77L |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
| Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
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 |
|
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 |
2014-01-21 |
Incidental Mutation