Incidental Mutation 'R9177:Mdga2'
ID |
696772 |
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 |
068949-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9177 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66517481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 118
(T118S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000113942]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912
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 |
possibly damaging
Transcript: ENSMUST00000113942
AA Change: T118S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109575 Gene: ENSMUSG00000034912 AA Change: T118S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
60 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178814
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222623
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,775,677 (GRCm39) |
V1622D |
probably damaging |
Het |
Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,955,392 (GRCm39) |
V161E |
probably damaging |
Het |
Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
Atp2c1 |
C |
T |
9: 105,336,858 (GRCm39) |
|
probably null |
Het |
C1s1 |
T |
G |
6: 124,508,362 (GRCm39) |
K542N |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,698,683 (GRCm39) |
N43S |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,905,465 (GRCm39) |
C161R |
probably damaging |
Het |
Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
Cdkl1 |
T |
C |
12: 69,794,100 (GRCm39) |
N346D |
probably benign |
Het |
Cdon |
A |
G |
9: 35,381,230 (GRCm39) |
D540G |
probably benign |
Het |
Cep164 |
T |
A |
9: 45,691,060 (GRCm39) |
E379V |
probably damaging |
Het |
Clock |
T |
C |
5: 76,377,256 (GRCm39) |
N681S |
probably benign |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
G |
9: 105,808,152 (GRCm39) |
K965N |
unknown |
Het |
Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
Dhx30 |
T |
C |
9: 109,915,750 (GRCm39) |
D741G |
probably damaging |
Het |
Dhx37 |
A |
G |
5: 125,507,958 (GRCm39) |
V104A |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
Eif6 |
A |
G |
2: 155,665,852 (GRCm39) |
L101P |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
Galntl6 |
A |
T |
8: 58,310,590 (GRCm39) |
Y370* |
probably null |
Het |
Gcn1 |
T |
C |
5: 115,719,867 (GRCm39) |
V374A |
probably benign |
Het |
Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,804,949 (GRCm39) |
M1K |
probably null |
Het |
Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,602,798 (GRCm39) |
C195* |
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,508,263 (GRCm39) |
H1235L |
unknown |
Het |
Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,234,949 (GRCm39) |
K124R |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,399,075 (GRCm39) |
Y339H |
unknown |
Het |
Nes |
G |
A |
3: 87,887,012 (GRCm39) |
G1757E |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
Nup93 |
A |
T |
8: 94,954,371 (GRCm39) |
I23F |
probably benign |
Het |
Or4a27 |
A |
C |
2: 88,559,174 (GRCm39) |
Y256* |
probably null |
Het |
Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
Or6y1 |
A |
C |
1: 174,276,923 (GRCm39) |
T245P |
probably damaging |
Het |
Or7g16 |
G |
T |
9: 18,726,742 (GRCm39) |
Q283K |
probably damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
Pak5 |
A |
C |
2: 135,943,126 (GRCm39) |
M338R |
probably benign |
Het |
Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
Pla2g1b |
T |
G |
5: 115,612,595 (GRCm39) |
I117S |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,943,469 (GRCm39) |
Q1246K |
probably benign |
Het |
Pole |
A |
G |
5: 110,480,288 (GRCm39) |
E1953G |
probably benign |
Het |
Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
Syk |
T |
A |
13: 52,766,480 (GRCm39) |
N188K |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,740,705 (GRCm39) |
S249P |
probably benign |
Het |
Tmem25 |
T |
C |
9: 44,709,529 (GRCm39) |
T91A |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,221,579 (GRCm39) |
V2772A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,596,447 (GRCm39) |
Y20155* |
probably null |
Het |
Uchl4 |
C |
T |
9: 64,142,986 (GRCm39) |
H156Y |
probably benign |
Het |
Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
Vwf |
G |
A |
6: 125,581,254 (GRCm39) |
A631T |
|
Het |
Zfp810 |
C |
T |
9: 22,189,936 (GRCm39) |
C324Y |
probably damaging |
Het |
Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
probably 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 |
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 |
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'- CAAACCATTGTTAGCAGTGCAAG -3'
(R):5'- AAAGGTTTCATATCCCTCCCCG -3'
Sequencing Primer
(F):5'- TAGCAGTGCAAGCTTCTGAG -3'
(R):5'- ACCCCACTTTTACTGTTGTTTGGG -3'
|
Posted On |
2022-02-07 |