Incidental Mutation 'PIT4362001:Mdga2'
ID |
554644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga2
|
Ensembl Gene |
ENSMUSG00000034912 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
Synonyms |
Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4362001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66797768 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
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: D152G
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: D152G
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 null
Transcript: ENSMUST00000101379
AA Change: *134W
|
SMART Domains |
Protein: ENSMUSP00000098930 Gene: ENSMUSG00000034912 AA Change: *134W
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: D142G
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: D83G
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223141
AA Change: D83G
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,064,424 (GRCm38) |
S28P |
possibly damaging |
Het |
Akr1c14 |
T |
C |
13: 4,079,100 (GRCm38) |
V165A |
probably damaging |
Het |
Aox2 |
A |
T |
1: 58,282,680 (GRCm38) |
T44S |
probably damaging |
Het |
Arhgap29 |
T |
A |
3: 122,003,212 (GRCm38) |
N482K |
probably benign |
Het |
Arhgef38 |
T |
A |
3: 133,160,830 (GRCm38) |
D182V |
|
Het |
Atad5 |
C |
T |
11: 80,111,567 (GRCm38) |
H1062Y |
probably benign |
Het |
Atp6v0b |
A |
G |
4: 117,885,256 (GRCm38) |
S147P |
possibly damaging |
Het |
Cblb |
T |
A |
16: 52,139,542 (GRCm38) |
Y299* |
probably null |
Het |
Ccdc28b |
T |
C |
4: 129,621,025 (GRCm38) |
N97S |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,465,458 (GRCm38) |
V479A |
probably benign |
Het |
Chuk |
A |
G |
19: 44,098,583 (GRCm38) |
|
probably null |
Het |
Cmtr2 |
G |
A |
8: 110,222,336 (GRCm38) |
G426D |
probably damaging |
Het |
Cog4 |
G |
A |
8: 110,866,672 (GRCm38) |
D472N |
probably damaging |
Het |
Creb3 |
T |
A |
4: 43,565,472 (GRCm38) |
L193* |
probably null |
Het |
Cxcr6 |
A |
T |
9: 123,810,461 (GRCm38) |
I183F |
probably benign |
Het |
Dbf4 |
A |
G |
5: 8,403,664 (GRCm38) |
F253L |
probably benign |
Het |
Dcaf8 |
T |
C |
1: 172,172,797 (GRCm38) |
V174A |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 25,735,752 (GRCm38) |
Y526C |
probably damaging |
Het |
Dnal4 |
A |
G |
15: 79,763,565 (GRCm38) |
V33A |
probably benign |
Het |
Egfl7 |
C |
T |
2: 26,591,040 (GRCm38) |
P188L |
probably benign |
Het |
Ephb3 |
A |
G |
16: 21,220,857 (GRCm38) |
E707G |
probably damaging |
Het |
Epn3 |
C |
T |
11: 94,496,523 (GRCm38) |
R7H |
probably damaging |
Het |
Fam198b |
C |
A |
3: 79,886,939 (GRCm38) |
S238Y |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 62,867,380 (GRCm38) |
I262F |
probably damaging |
Het |
Fgfbp3 |
G |
A |
19: 36,918,688 (GRCm38) |
R177* |
probably null |
Het |
Gbp5 |
T |
C |
3: 142,500,710 (GRCm38) |
S52P |
probably damaging |
Het |
Glb1l2 |
A |
T |
9: 26,773,981 (GRCm38) |
S282T |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,258,799 (GRCm38) |
V133E |
possibly damaging |
Het |
Gm4787 |
T |
G |
12: 81,377,175 (GRCm38) |
L736F |
probably benign |
Het |
Gm5565 |
A |
T |
5: 146,158,299 (GRCm38) |
S212R |
probably benign |
Het |
Grin2c |
T |
C |
11: 115,249,633 (GRCm38) |
T1220A |
probably benign |
Het |
Grp |
T |
G |
18: 65,886,226 (GRCm38) |
S133A |
probably benign |
Het |
Gstp2 |
C |
A |
19: 4,040,713 (GRCm38) |
D147Y |
possibly damaging |
Het |
Igkv14-130 |
T |
C |
6: 67,791,408 (GRCm38) |
F84L |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,826,013 (GRCm38) |
R944G |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,369,136 (GRCm38) |
N216K |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,537,538 (GRCm38) |
D210V |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,962,540 (GRCm38) |
Q120L |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,071,194 (GRCm38) |
I1555T |
probably benign |
Het |
Map2 |
G |
A |
1: 66,412,518 (GRCm38) |
G189D |
probably benign |
Het |
Mdc1 |
A |
G |
17: 35,844,469 (GRCm38) |
E12G |
possibly damaging |
Het |
Med23 |
A |
G |
10: 24,874,571 (GRCm38) |
M99V |
probably benign |
Het |
Mutyh |
G |
A |
4: 116,817,070 (GRCm38) |
V273M |
probably damaging |
Het |
Neurod2 |
T |
A |
11: 98,327,882 (GRCm38) |
Y152F |
probably damaging |
Het |
Olfr1002 |
A |
C |
2: 85,647,724 (GRCm38) |
L199R |
probably damaging |
Het |
Olfr1177-ps |
C |
T |
2: 88,344,013 (GRCm38) |
A247T |
probably benign |
Het |
Olfr898 |
G |
T |
9: 38,349,198 (GRCm38) |
L32F |
probably benign |
Het |
Pcdh20 |
G |
C |
14: 88,467,026 (GRCm38) |
P946R |
probably damaging |
Het |
Pde6b |
T |
C |
5: 108,423,585 (GRCm38) |
|
probably null |
Het |
Pdzrn4 |
A |
T |
15: 92,769,881 (GRCm38) |
D638V |
possibly damaging |
Het |
Polr1b |
A |
G |
2: 129,109,292 (GRCm38) |
D275G |
possibly damaging |
Het |
Rnf157 |
T |
A |
11: 116,360,317 (GRCm38) |
D127V |
probably damaging |
Het |
Rspo4 |
T |
A |
2: 151,867,883 (GRCm38) |
C69* |
probably null |
Het |
Scara3 |
T |
C |
14: 65,936,402 (GRCm38) |
T63A |
probably benign |
Het |
Scn2a |
G |
A |
2: 65,683,838 (GRCm38) |
E289K |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,377,549 (GRCm38) |
T163A |
probably benign |
Het |
Slc2a10 |
T |
A |
2: 165,516,293 (GRCm38) |
F446Y |
probably damaging |
Het |
Snapc1 |
C |
T |
12: 73,982,495 (GRCm38) |
R351C |
probably damaging |
Het |
Snx6 |
A |
G |
12: 54,768,030 (GRCm38) |
Y169H |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,861,435 (GRCm38) |
C1996* |
probably null |
Het |
Steap4 |
A |
G |
5: 7,980,337 (GRCm38) |
T398A |
probably benign |
Het |
Tep1 |
A |
T |
14: 50,866,053 (GRCm38) |
L260Q |
probably benign |
Het |
Tspan12 |
A |
T |
6: 21,835,464 (GRCm38) |
V70D |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,739,018 (GRCm38) |
A27177V |
probably damaging |
Het |
Ube3a |
T |
C |
7: 59,276,122 (GRCm38) |
V237A |
possibly damaging |
Het |
Vil1 |
G |
A |
1: 74,421,383 (GRCm38) |
R233H |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,393,929 (GRCm38) |
T716A |
probably benign |
Het |
Zbp1 |
A |
G |
2: 173,216,990 (GRCm38) |
I18T |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,807,524 (GRCm38) |
V1845A |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,561,268 (GRCm38) |
N573K |
possibly damaging |
Het |
Zfp64 |
T |
C |
2: 168,925,815 (GRCm38) |
T626A |
probably benign |
Het |
|
Other mutations in Mdga2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Mdga2
|
APN |
12 |
66,723,109 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL01632:Mdga2
|
APN |
12 |
66,629,898 (GRCm38) |
splice site |
probably benign |
|
IGL01843:Mdga2
|
APN |
12 |
66,723,131 (GRCm38) |
critical splice acceptor site |
probably null |
|
IGL02230:Mdga2
|
APN |
12 |
66,655,423 (GRCm38) |
nonsense |
probably null |
|
IGL02348:Mdga2
|
APN |
12 |
66,550,575 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02473:Mdga2
|
APN |
12 |
66,550,611 (GRCm38) |
missense |
possibly damaging |
0.73 |
IGL02795:Mdga2
|
APN |
12 |
66,689,432 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02901:Mdga2
|
APN |
12 |
66,797,809 (GRCm38) |
splice site |
probably benign |
|
IGL03373:Mdga2
|
APN |
12 |
66,716,722 (GRCm38) |
missense |
probably damaging |
0.99 |
PIT4377001:Mdga2
|
UTSW |
12 |
66,716,695 (GRCm38) |
missense |
probably damaging |
0.99 |
R0106:Mdga2
|
UTSW |
12 |
66,716,706 (GRCm38) |
missense |
probably damaging |
1.00 |
R0106:Mdga2
|
UTSW |
12 |
66,716,706 (GRCm38) |
missense |
probably damaging |
1.00 |
R0110:Mdga2
|
UTSW |
12 |
66,470,926 (GRCm38) |
missense |
possibly damaging |
0.66 |
R0218:Mdga2
|
UTSW |
12 |
66,655,120 (GRCm38) |
missense |
probably damaging |
1.00 |
R0450:Mdga2
|
UTSW |
12 |
66,470,926 (GRCm38) |
missense |
possibly damaging |
0.66 |
R0801:Mdga2
|
UTSW |
12 |
66,486,733 (GRCm38) |
missense |
probably damaging |
1.00 |
R0847:Mdga2
|
UTSW |
12 |
66,723,080 (GRCm38) |
missense |
probably damaging |
1.00 |
R1056:Mdga2
|
UTSW |
12 |
66,723,120 (GRCm38) |
missense |
probably damaging |
0.97 |
R1086:Mdga2
|
UTSW |
12 |
66,506,102 (GRCm38) |
splice site |
probably benign |
|
R1335:Mdga2
|
UTSW |
12 |
66,716,742 (GRCm38) |
splice site |
probably null |
|
R1382:Mdga2
|
UTSW |
12 |
66,470,916 (GRCm38) |
missense |
possibly damaging |
0.68 |
R1490:Mdga2
|
UTSW |
12 |
66,797,756 (GRCm38) |
missense |
probably benign |
0.01 |
R1521:Mdga2
|
UTSW |
12 |
66,568,926 (GRCm38) |
missense |
probably benign |
0.00 |
R1556:Mdga2
|
UTSW |
12 |
66,550,593 (GRCm38) |
missense |
possibly damaging |
0.92 |
R1676:Mdga2
|
UTSW |
12 |
66,568,773 (GRCm38) |
nonsense |
probably null |
|
R1676:Mdga2
|
UTSW |
12 |
66,568,772 (GRCm38) |
missense |
probably damaging |
1.00 |
R1698:Mdga2
|
UTSW |
12 |
66,689,335 (GRCm38) |
missense |
probably damaging |
0.97 |
R1954:Mdga2
|
UTSW |
12 |
66,486,708 (GRCm38) |
splice site |
probably benign |
|
R2069:Mdga2
|
UTSW |
12 |
66,568,917 (GRCm38) |
nonsense |
probably null |
|
R2077:Mdga2
|
UTSW |
12 |
66,655,362 (GRCm38) |
missense |
probably damaging |
1.00 |
R2118:Mdga2
|
UTSW |
12 |
66,868,752 (GRCm38) |
missense |
probably damaging |
1.00 |
R2146:Mdga2
|
UTSW |
12 |
66,868,741 (GRCm38) |
missense |
probably damaging |
1.00 |
R2158:Mdga2
|
UTSW |
12 |
66,689,381 (GRCm38) |
missense |
possibly damaging |
0.64 |
R2189:Mdga2
|
UTSW |
12 |
66,473,196 (GRCm38) |
splice site |
probably null |
|
R2293:Mdga2
|
UTSW |
12 |
66,568,985 (GRCm38) |
nonsense |
probably null |
|
R2886:Mdga2
|
UTSW |
12 |
66,506,270 (GRCm38) |
splice site |
probably benign |
|
R2960:Mdga2
|
UTSW |
12 |
66,629,978 (GRCm38) |
nonsense |
probably null |
|
R3937:Mdga2
|
UTSW |
12 |
67,221,206 (GRCm38) |
unclassified |
probably benign |
|
R4437:Mdga2
|
UTSW |
12 |
66,473,198 (GRCm38) |
splice site |
probably null |
|
R4514:Mdga2
|
UTSW |
12 |
66,716,722 (GRCm38) |
missense |
probably damaging |
0.99 |
R4693:Mdga2
|
UTSW |
12 |
66,797,633 (GRCm38) |
missense |
possibly damaging |
0.81 |
R4719:Mdga2
|
UTSW |
12 |
66,471,001 (GRCm38) |
unclassified |
probably benign |
|
R4744:Mdga2
|
UTSW |
12 |
66,797,727 (GRCm38) |
missense |
probably benign |
0.01 |
R4756:Mdga2
|
UTSW |
12 |
66,797,653 (GRCm38) |
missense |
probably damaging |
1.00 |
R4781:Mdga2
|
UTSW |
12 |
66,797,622 (GRCm38) |
splice site |
probably null |
|
R5022:Mdga2
|
UTSW |
12 |
66,470,760 (GRCm38) |
missense |
possibly damaging |
0.83 |
R5108:Mdga2
|
UTSW |
12 |
66,486,741 (GRCm38) |
missense |
probably benign |
0.43 |
R5479:Mdga2
|
UTSW |
12 |
66,655,176 (GRCm38) |
missense |
probably damaging |
1.00 |
R5710:Mdga2
|
UTSW |
12 |
66,506,782 (GRCm38) |
missense |
probably damaging |
1.00 |
R5816:Mdga2
|
UTSW |
12 |
66,655,182 (GRCm38) |
missense |
probably damaging |
1.00 |
R5822:Mdga2
|
UTSW |
12 |
66,655,335 (GRCm38) |
missense |
probably damaging |
1.00 |
R5996:Mdga2
|
UTSW |
12 |
66,797,763 (GRCm38) |
missense |
probably benign |
0.00 |
R6038:Mdga2
|
UTSW |
12 |
66,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
R6038:Mdga2
|
UTSW |
12 |
66,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
R6297:Mdga2
|
UTSW |
12 |
66,506,253 (GRCm38) |
missense |
probably damaging |
1.00 |
R6484:Mdga2
|
UTSW |
12 |
66,630,069 (GRCm38) |
missense |
possibly damaging |
0.90 |
R6830:Mdga2
|
UTSW |
12 |
66,723,001 (GRCm38) |
missense |
probably damaging |
1.00 |
R6912:Mdga2
|
UTSW |
12 |
66,506,115 (GRCm38) |
missense |
probably benign |
0.01 |
R6971:Mdga2
|
UTSW |
12 |
66,550,561 (GRCm38) |
missense |
probably damaging |
1.00 |
R7053:Mdga2
|
UTSW |
12 |
66,689,384 (GRCm38) |
missense |
probably benign |
0.41 |
R7069:Mdga2
|
UTSW |
12 |
66,486,752 (GRCm38) |
missense |
probably benign |
0.31 |
R7381:Mdga2
|
UTSW |
12 |
66,568,896 (GRCm38) |
missense |
probably benign |
0.44 |
R7474:Mdga2
|
UTSW |
12 |
66,486,761 (GRCm38) |
nonsense |
probably null |
|
R7559:Mdga2
|
UTSW |
12 |
66,473,229 (GRCm38) |
missense |
probably damaging |
1.00 |
R7581:Mdga2
|
UTSW |
12 |
66,506,255 (GRCm38) |
missense |
probably damaging |
0.99 |
R7596:Mdga2
|
UTSW |
12 |
66,506,123 (GRCm38) |
missense |
probably damaging |
0.99 |
R7745:Mdga2
|
UTSW |
12 |
66,689,351 (GRCm38) |
missense |
possibly damaging |
0.63 |
R7745:Mdga2
|
UTSW |
12 |
66,689,350 (GRCm38) |
missense |
probably damaging |
0.99 |
R7852:Mdga2
|
UTSW |
12 |
66,470,950 (GRCm38) |
missense |
possibly damaging |
0.66 |
R8144:Mdga2
|
UTSW |
12 |
66,655,263 (GRCm38) |
missense |
probably damaging |
1.00 |
R8319:Mdga2
|
UTSW |
12 |
67,221,029 (GRCm38) |
missense |
unknown |
|
R8715:Mdga2
|
UTSW |
12 |
66,868,752 (GRCm38) |
missense |
probably damaging |
1.00 |
R8977:Mdga2
|
UTSW |
12 |
66,797,635 (GRCm38) |
missense |
possibly damaging |
0.88 |
R9138:Mdga2
|
UTSW |
12 |
66,568,889 (GRCm38) |
missense |
possibly damaging |
0.89 |
R9177:Mdga2
|
UTSW |
12 |
66,470,707 (GRCm38) |
missense |
possibly damaging |
0.66 |
R9223:Mdga2
|
UTSW |
12 |
66,568,860 (GRCm38) |
missense |
possibly damaging |
0.81 |
R9248:Mdga2
|
UTSW |
12 |
66,689,452 (GRCm38) |
missense |
possibly damaging |
0.87 |
R9264:Mdga2
|
UTSW |
12 |
66,513,283 (GRCm38) |
missense |
probably damaging |
1.00 |
R9381:Mdga2
|
UTSW |
12 |
66,550,530 (GRCm38) |
missense |
possibly damaging |
0.64 |
R9456:Mdga2
|
UTSW |
12 |
66,568,758 (GRCm38) |
missense |
probably benign |
0.44 |
R9633:Mdga2
|
UTSW |
12 |
66,689,432 (GRCm38) |
missense |
probably benign |
0.00 |
Z1176:Mdga2
|
UTSW |
12 |
66,689,443 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1186:Mdga2
|
UTSW |
12 |
66,568,953 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTAGGCACAATAGTCAGCC -3'
(R):5'- GTGTACTCTAAAGCGAAGACATTG -3'
Sequencing Primer
(F):5'- GGCACAATAGTCAGCCAAAGTTTAC -3'
(R):5'- CTCTAAAGCGAAGACATTGGTGCTTG -3'
|
Posted On |
2019-06-07 |