Incidental Mutation 'R6795:Calr4'
| ID |
532964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calr4
|
| Ensembl Gene |
ENSMUSG00000028558 |
| Gene Name |
calreticulin 4 |
| Synonyms |
4933403L16Rik |
| MMRRC Submission |
044908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109091682-109111768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109101985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 147
(N147D)
|
| 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: N254D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: N254D
| 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: N147D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: N147D
| 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: N147D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: N147D
| 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: N147D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: N147D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
1 |
211 |
6.4e-77 |
PFAM |
|
coiled coil region
|
229 |
309 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
C |
A |
4: 73,869,065 (GRCm39) |
|
probably benign |
Het |
| A2m |
T |
A |
6: 121,625,281 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,776,357 (GRCm39) |
Y176F |
probably damaging |
Het |
| Agps |
A |
G |
2: 75,724,402 (GRCm39) |
D472G |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,726,961 (GRCm39) |
V158A |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,833,873 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Cd8b1 |
T |
A |
6: 71,303,324 (GRCm39) |
L133Q |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,652,887 (GRCm39) |
S19R |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,694,449 (GRCm39) |
N494S |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,228 (GRCm39) |
G184R |
possibly damaging |
Het |
| Dlgap1 |
C |
A |
17: 71,125,069 (GRCm39) |
A614E |
possibly damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| Ephb2 |
A |
C |
4: 136,400,646 (GRCm39) |
L544R |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,045,232 (GRCm39) |
T21S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,811,303 (GRCm39) |
M2541L |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,070,175 (GRCm39) |
F530S |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,262,676 (GRCm39) |
C871Y |
probably damaging |
Het |
| Gmds |
C |
T |
13: 32,418,335 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,841,270 (GRCm39) |
V620A |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,994,230 (GRCm39) |
T908A |
probably damaging |
Het |
| Or5d18 |
C |
T |
2: 87,864,668 (GRCm39) |
V272I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcf11 |
A |
C |
7: 92,306,786 (GRCm39) |
N1127K |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,338 (GRCm39) |
K1979E |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,980 (GRCm39) |
|
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,478,941 (GRCm39) |
C588* |
probably null |
Het |
| Skint5 |
C |
T |
4: 113,524,420 (GRCm39) |
E854K |
unknown |
Het |
| Slc25a42 |
A |
G |
8: 70,641,040 (GRCm39) |
Y187H |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,953,577 (GRCm39) |
D182E |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,740 (GRCm39) |
I1047V |
probably damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,102 (GRCm39) |
D593G |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,303 (GRCm39) |
Q165* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttf2 |
G |
A |
3: 100,866,578 (GRCm39) |
A518V |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,422 (GRCm39) |
Y28C |
possibly damaging |
Het |
| Zzef1 |
A |
G |
11: 72,741,485 (GRCm39) |
E709G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGTACTTGAGTCCCCAG -3'
(R):5'- TGGCCAGCATCCTATTCAGTG -3'
Sequencing Primer
(F):5'- GTACTTGAGTCCCCAGTTTCC -3'
(R):5'- AGACATGGTCCTGCTGTACAGTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation