Incidental Mutation 'R2158:Mdga2'
| ID |
235001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga2
|
| Ensembl Gene |
ENSMUSG00000034912 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
| Synonyms |
6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1 |
| MMRRC Submission |
040161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66736155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 358
(V358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037181
AA Change: V358I
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: V358I
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
122 |
186 |
1.38e-15 |
SMART |
|
IG
|
213 |
307 |
1.79e0 |
SMART |
|
IGc2
|
324 |
386 |
1.56e-14 |
SMART |
|
IGc2
|
419 |
493 |
4.43e-5 |
SMART |
|
low complexity region
|
495 |
507 |
N/A |
INTRINSIC |
|
IGc2
|
525 |
591 |
1.97e-11 |
SMART |
|
IG_like
|
621 |
687 |
2.5e0 |
SMART |
|
Blast:FN3
|
707 |
795 |
4e-40 |
BLAST |
|
MAM
|
812 |
990 |
3.4e-49 |
SMART |
|
transmembrane domain
|
999 |
1021 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101379
|
| SMART Domains |
Protein: ENSMUSP00000098930
Gene: ENSMUSG00000034912
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1cs6a1
|
40 |
72 |
2e-5 |
SMART |
|
Blast:IG
|
47 |
72 |
9e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178814
AA Change: V348I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: V348I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
117 |
1.38e-15 |
SMART |
|
IG
|
144 |
238 |
1.79e0 |
SMART |
|
IGc2
|
255 |
317 |
1.56e-14 |
SMART |
|
IGc2
|
350 |
424 |
4.43e-5 |
SMART |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
IGc2
|
456 |
522 |
1.97e-11 |
SMART |
|
IG_like
|
552 |
618 |
2.5e0 |
SMART |
|
Blast:FN3
|
638 |
726 |
3e-40 |
BLAST |
|
MAM
|
736 |
914 |
1.38e-49 |
SMART |
|
transmembrane domain
|
923 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222167
AA Change: V289I
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
AA Change: V289I
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0761 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
| 4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
| Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
| Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
| Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
| Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
| Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
| Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
| Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
| Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
| Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
| Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
| Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
| Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
| Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
| Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
| Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
| Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
| Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
| Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
| Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
| Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
| Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
| Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
possibly damaging |
Het |
|
| Other mutations in Mdga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Mdga2
|
APN |
12 |
66,769,883 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01632:Mdga2
|
APN |
12 |
66,676,672 (GRCm39) |
splice site |
probably benign |
|
|
IGL01843:Mdga2
|
APN |
12 |
66,769,905 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02230:Mdga2
|
APN |
12 |
66,702,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL02348:Mdga2
|
APN |
12 |
66,597,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Mdga2
|
APN |
12 |
66,597,385 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02795:Mdga2
|
APN |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02901:Mdga2
|
APN |
12 |
66,844,583 (GRCm39) |
splice site |
probably benign |
|
|
IGL03373:Mdga2
|
APN |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4362001:Mdga2
|
UTSW |
12 |
66,844,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4377001:Mdga2
|
UTSW |
12 |
66,763,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0218:Mdga2
|
UTSW |
12 |
66,701,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0801:Mdga2
|
UTSW |
12 |
66,533,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Mdga2
|
UTSW |
12 |
66,769,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Mdga2
|
UTSW |
12 |
66,769,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1086:Mdga2
|
UTSW |
12 |
66,552,876 (GRCm39) |
splice site |
probably benign |
|
|
R1335:Mdga2
|
UTSW |
12 |
66,763,516 (GRCm39) |
splice site |
probably null |
|
|
R1382:Mdga2
|
UTSW |
12 |
66,517,690 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1490:Mdga2
|
UTSW |
12 |
66,844,530 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1521:Mdga2
|
UTSW |
12 |
66,615,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1556:Mdga2
|
UTSW |
12 |
66,597,367 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1676:Mdga2
|
UTSW |
12 |
66,615,547 (GRCm39) |
nonsense |
probably null |
|
|
R1676:Mdga2
|
UTSW |
12 |
66,615,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Mdga2
|
UTSW |
12 |
66,736,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1954:Mdga2
|
UTSW |
12 |
66,533,482 (GRCm39) |
splice site |
probably benign |
|
|
R2069:Mdga2
|
UTSW |
12 |
66,615,691 (GRCm39) |
nonsense |
probably null |
|
|
R2077:Mdga2
|
UTSW |
12 |
66,702,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Mdga2
|
UTSW |
12 |
66,915,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Mdga2
|
UTSW |
12 |
66,519,970 (GRCm39) |
splice site |
probably null |
|
|
R2293:Mdga2
|
UTSW |
12 |
66,615,759 (GRCm39) |
nonsense |
probably null |
|
|
R2886:Mdga2
|
UTSW |
12 |
66,553,044 (GRCm39) |
splice site |
probably benign |
|
|
R2960:Mdga2
|
UTSW |
12 |
66,676,752 (GRCm39) |
nonsense |
probably null |
|
|
R3937:Mdga2
|
UTSW |
12 |
67,267,980 (GRCm39) |
unclassified |
probably benign |
|
|
R4437:Mdga2
|
UTSW |
12 |
66,519,972 (GRCm39) |
splice site |
probably null |
|
|
R4514:Mdga2
|
UTSW |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Mdga2
|
UTSW |
12 |
66,844,407 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4719:Mdga2
|
UTSW |
12 |
66,517,775 (GRCm39) |
unclassified |
probably benign |
|
|
R4744:Mdga2
|
UTSW |
12 |
66,844,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4756:Mdga2
|
UTSW |
12 |
66,844,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Mdga2
|
UTSW |
12 |
66,844,396 (GRCm39) |
splice site |
probably null |
|
|
R5022:Mdga2
|
UTSW |
12 |
66,517,534 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5108:Mdga2
|
UTSW |
12 |
66,533,515 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5479:Mdga2
|
UTSW |
12 |
66,701,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:Mdga2
|
UTSW |
12 |
66,553,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Mdga2
|
UTSW |
12 |
66,701,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Mdga2
|
UTSW |
12 |
66,702,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Mdga2
|
UTSW |
12 |
66,844,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Mdga2
|
UTSW |
12 |
66,553,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6484:Mdga2
|
UTSW |
12 |
66,676,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6830:Mdga2
|
UTSW |
12 |
66,769,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Mdga2
|
UTSW |
12 |
66,552,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6971:Mdga2
|
UTSW |
12 |
66,597,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Mdga2
|
UTSW |
12 |
66,736,158 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7069:Mdga2
|
UTSW |
12 |
66,533,526 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7381:Mdga2
|
UTSW |
12 |
66,615,670 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7474:Mdga2
|
UTSW |
12 |
66,533,535 (GRCm39) |
nonsense |
probably null |
|
|
R7559:Mdga2
|
UTSW |
12 |
66,520,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7581:Mdga2
|
UTSW |
12 |
66,553,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7596:Mdga2
|
UTSW |
12 |
66,552,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7745:Mdga2
|
UTSW |
12 |
66,736,125 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7745:Mdga2
|
UTSW |
12 |
66,736,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7852:Mdga2
|
UTSW |
12 |
66,517,724 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8144:Mdga2
|
UTSW |
12 |
66,702,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Mdga2
|
UTSW |
12 |
67,267,803 (GRCm39) |
missense |
unknown |
|
|
R8715:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Mdga2
|
UTSW |
12 |
66,844,409 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9138:Mdga2
|
UTSW |
12 |
66,615,663 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9177:Mdga2
|
UTSW |
12 |
66,517,481 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9223:Mdga2
|
UTSW |
12 |
66,615,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9248:Mdga2
|
UTSW |
12 |
66,736,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9264:Mdga2
|
UTSW |
12 |
66,560,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Mdga2
|
UTSW |
12 |
66,597,304 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9456:Mdga2
|
UTSW |
12 |
66,615,532 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9633:Mdga2
|
UTSW |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Mdga2
|
UTSW |
12 |
66,736,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Mdga2
|
UTSW |
12 |
66,615,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCATCCGATAAAATATCAGGAC -3'
(R):5'- ACCTGCTATTGATTACCTGTTCAAC -3'
Sequencing Primer
(F):5'- TTTTGCAGGGTTTCCCA -3'
(R):5'- CTCAATAAATGCATGTCTTCTCTTTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation