Incidental Mutation 'R9223:Mdga2'
| ID |
699616 |
| 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 |
068959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66615634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 658
(D658N)
|
| 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: D658N
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: D658N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: D648N
| 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 |
possibly damaging
Transcript: ENSMUST00000222167
AA Change: D589N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223141
AA Change: D589N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
C |
A |
9: 101,820,193 (GRCm39) |
D204E |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,156,037 (GRCm39) |
S80P |
probably benign |
Het |
| Bcl6b |
A |
T |
11: 70,117,400 (GRCm39) |
Y407* |
probably null |
Het |
| Ccn2 |
T |
C |
10: 24,471,856 (GRCm39) |
V49A |
probably benign |
Het |
| Cel |
TTA |
TTATA |
2: 28,449,441 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
T |
2: 79,171,674 (GRCm39) |
C395S |
probably damaging |
Het |
| Chst5 |
C |
A |
8: 112,617,492 (GRCm39) |
V43L |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,784,337 (GRCm39) |
F271I |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,484,411 (GRCm39) |
T1190A |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,648,528 (GRCm39) |
E938D |
probably damaging |
Het |
| Dmrta2 |
G |
A |
4: 109,839,779 (GRCm39) |
V509M |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,361,420 (GRCm39) |
M3440K |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,029,184 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
G |
7: 130,927,869 (GRCm39) |
S107P |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,149,358 (GRCm39) |
I708N |
probably benign |
Het |
| Fbxo11 |
A |
T |
17: 88,323,124 (GRCm39) |
D12E |
|
Het |
| Fbxw13 |
T |
C |
9: 109,024,116 (GRCm39) |
D39G |
probably damaging |
Het |
| Gabrb3 |
T |
G |
7: 57,466,152 (GRCm39) |
L322R |
probably damaging |
Het |
| Gm5239 |
A |
T |
18: 35,669,672 (GRCm39) |
I13F |
possibly damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,802 (GRCm39) |
Y375C |
probably benign |
Het |
| Helq |
A |
T |
5: 100,946,303 (GRCm39) |
S13T |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,918 (GRCm39) |
T514A |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,522,552 (GRCm39) |
V32A |
|
Het |
| Htra4 |
A |
G |
8: 25,527,048 (GRCm39) |
I249T |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,062,692 (GRCm39) |
V2809L |
probably benign |
Het |
| Ifi203 |
T |
A |
1: 173,765,437 (GRCm39) |
I46F |
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,306 (GRCm39) |
I296F |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,357 (GRCm39) |
E882G |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,071 (GRCm39) |
D444E |
probably benign |
Het |
| Lrrtm3 |
ATTTT |
ATTTTT |
10: 63,925,035 (GRCm39) |
|
probably null |
Het |
| Mkrn1 |
T |
C |
6: 39,378,183 (GRCm39) |
K316R |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,553,666 (GRCm39) |
C165Y |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,867 (GRCm39) |
F1843L |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,220,093 (GRCm39) |
R338Q |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,364,184 (GRCm39) |
R372H |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,202,599 (GRCm39) |
S1461Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,814,738 (GRCm39) |
V282D |
possibly damaging |
Het |
| Nup98 |
C |
A |
7: 101,834,167 (GRCm39) |
G265V |
possibly damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,911 (GRCm39) |
F260S |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,513,980 (GRCm39) |
T192A |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,442,012 (GRCm39) |
E24K |
possibly damaging |
Het |
| Or4f58 |
T |
A |
2: 111,851,517 (GRCm39) |
K227N |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,473 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8k18 |
G |
T |
2: 86,085,544 (GRCm39) |
F164L |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,690,205 (GRCm39) |
E888D |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,948,685 (GRCm39) |
I34V |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,807,376 (GRCm39) |
R417G |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,778 (GRCm39) |
S311G |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,812 (GRCm39) |
V105A |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,183,444 (GRCm39) |
D102G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,066,772 (GRCm39) |
I184V |
probably damaging |
Het |
| Spopfm2 |
A |
C |
3: 94,082,950 (GRCm39) |
L287R |
probably damaging |
Het |
| Tex35 |
A |
T |
1: 156,935,436 (GRCm39) |
C21S |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,282,649 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,897,998 (GRCm39) |
C607Y |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,963,166 (GRCm39) |
M395K |
probably benign |
Het |
| Trim43b |
A |
C |
9: 88,967,663 (GRCm39) |
H324Q |
probably benign |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,141 (GRCm39) |
Y625F |
probably damaging |
Het |
| Yipf3 |
A |
T |
17: 46,559,798 (GRCm39) |
N38I |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,496 (GRCm39) |
E522D |
probably benign |
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 |
|
R2158:Mdga2
|
UTSW |
12 |
66,736,155 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
|
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'- AAGATCCGTTGCTTTGATGGC -3'
(R):5'- TCCTCATAATTGAAAAGCCAAGGAG -3'
Sequencing Primer
(F):5'- AAAGCTGCATCTCCCTG -3'
(R):5'- CCAAGGAGATTGCTGTTTTGAAATCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation