Incidental Mutation 'R6624:Ergic3'
| ID |
524647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ergic3
|
| Ensembl Gene |
ENSMUSG00000005881 |
| Gene Name |
ERGIC and golgi 3 |
| Synonyms |
2310015B14Rik, CGI-54, NY-BR-84, D2Ucla1, Sdbcag84 |
| MMRRC Submission |
044746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R6624 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155849965-155860199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155858818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006035]
[ENSMUST00000088650]
[ENSMUST00000109611]
|
| AlphaFold |
Q9CQE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006035
AA Change: M275K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881
AA Change: M275K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERGIC_N
|
6 |
101 |
2.2e-38 |
PFAM |
|
Pfam:COPIIcoated_ERV
|
145 |
363 |
6.2e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088650
AA Change: M286K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881
AA Change: M286K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERGIC_N
|
7 |
97 |
9e-35 |
PFAM |
|
Pfam:COPIIcoated_ERV
|
145 |
374 |
7e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109611
|
| SMART Domains |
Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3L9B|A
|
1 |
122 |
1e-12 |
PDB |
|
Blast:C2
|
2 |
96 |
2e-51 |
BLAST |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
197 |
N/A |
INTRINSIC |
|
C2
|
228 |
329 |
2.87e-7 |
SMART |
|
FerI
|
312 |
383 |
7.93e-29 |
SMART |
|
C2
|
391 |
501 |
3.64e-9 |
SMART |
|
low complexity region
|
574 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
855 |
N/A |
INTRINSIC |
|
FerB
|
861 |
932 |
7.27e-37 |
SMART |
|
C2
|
968 |
1076 |
3.73e-6 |
SMART |
|
low complexity region
|
1249 |
1257 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1310 |
N/A |
INTRINSIC |
|
low complexity region
|
1327 |
1340 |
N/A |
INTRINSIC |
|
low complexity region
|
1397 |
1407 |
N/A |
INTRINSIC |
|
C2
|
1449 |
1548 |
5.65e-15 |
SMART |
|
C2
|
1692 |
1822 |
4.22e-5 |
SMART |
|
Pfam:Ferlin_C
|
1834 |
1987 |
1.6e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138297
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142859
AA Change: M208K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881
AA Change: M208K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COPIIcoated_ERV
|
74 |
246 |
1.9e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155370
AA Change: M150K
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881
AA Change: M150K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COPIIcoated_ERV
|
21 |
235 |
1e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150538
|
| Meta Mutation Damage Score |
0.7668 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
| Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
| Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
| Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
| Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
| Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
| Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
| Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
| Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
possibly damaging |
Het |
|
| Other mutations in Ergic3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02089:Ergic3
|
APN |
2 |
155,852,395 (GRCm39) |
missense |
probably benign |
|
|
IGL02792:Ergic3
|
APN |
2 |
155,859,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Ergic3
|
UTSW |
2 |
155,853,060 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0389:Ergic3
|
UTSW |
2 |
155,858,707 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0443:Ergic3
|
UTSW |
2 |
155,858,707 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1116:Ergic3
|
UTSW |
2 |
155,858,707 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2005:Ergic3
|
UTSW |
2 |
155,853,028 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2230:Ergic3
|
UTSW |
2 |
155,859,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Ergic3
|
UTSW |
2 |
155,859,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Ergic3
|
UTSW |
2 |
155,859,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5103:Ergic3
|
UTSW |
2 |
155,850,545 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5285:Ergic3
|
UTSW |
2 |
155,859,957 (GRCm39) |
unclassified |
probably benign |
|
|
R6660:Ergic3
|
UTSW |
2 |
155,859,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Ergic3
|
UTSW |
2 |
155,858,683 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8948:Ergic3
|
UTSW |
2 |
155,853,160 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9155:Ergic3
|
UTSW |
2 |
155,850,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Ergic3
|
UTSW |
2 |
155,853,164 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Ergic3
|
UTSW |
2 |
155,850,531 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTGCTTGCAGATCAACATGAC -3'
(R):5'- TTGAGCCTGTGACTGCAGTG -3'
Sequencing Primer
(F):5'- GCTTGCAGATCAACATGACACACTAC -3'
(R):5'- GGCAGACCTCTACCCTTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation