Incidental Mutation 'R4744:Mdga2'
ID |
356599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga2
|
Ensembl Gene |
ENSMUSG00000034912 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
Synonyms |
Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2 |
MMRRC Submission |
042027-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4744 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66797727 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 166
(I166F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
AA Change: I166F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: I166F
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 |
unknown
Transcript: ENSMUST00000178814
AA Change: I156F
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912 AA Change: I156F
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: I97F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
AA Change: I97F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Meta Mutation Damage Score |
0.5513  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
99% (82/83) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
T |
C |
5: 114,879,556 (GRCm38) |
S143P |
possibly damaging |
Het |
4933427D14Rik |
T |
C |
11: 72,175,539 (GRCm38) |
K614E |
probably damaging |
Het |
Aatk |
A |
G |
11: 120,016,122 (GRCm38) |
M155T |
possibly damaging |
Het |
Acvr2b |
T |
C |
9: 119,431,262 (GRCm38) |
L333P |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,078,699 (GRCm38) |
E865G |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,110,888 (GRCm38) |
S358G |
probably damaging |
Het |
Agap2 |
T |
C |
10: 127,090,203 (GRCm38) |
|
probably null |
Het |
Alkbh8 |
G |
A |
9: 3,344,604 (GRCm38) |
W49* |
probably null |
Het |
AU015228 |
A |
T |
2: 130,100,629 (GRCm38) |
|
noncoding transcript |
Het |
Bank1 |
G |
T |
3: 136,247,689 (GRCm38) |
R102S |
probably benign |
Het |
Brap |
T |
A |
5: 121,662,130 (GRCm38) |
D27E |
probably damaging |
Het |
Cyb5r2 |
G |
T |
7: 107,750,277 (GRCm38) |
H276N |
possibly damaging |
Het |
Dhh |
A |
G |
15: 98,894,258 (GRCm38) |
F290L |
possibly damaging |
Het |
Dhrs7 |
T |
A |
12: 72,652,251 (GRCm38) |
N319I |
possibly damaging |
Het |
Ebpl |
A |
G |
14: 61,360,233 (GRCm38) |
V53A |
probably damaging |
Het |
Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,477,717 (GRCm38) |
|
probably benign |
Het |
Etnk1 |
A |
C |
6: 143,186,593 (GRCm38) |
N220T |
probably damaging |
Het |
F11r |
T |
A |
1: 171,460,598 (GRCm38) |
V64D |
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,224,909 (GRCm38) |
S360P |
probably damaging |
Het |
Fignl1 |
A |
G |
11: 11,801,585 (GRCm38) |
M490T |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,114,003 (GRCm38) |
M75K |
probably benign |
Het |
Fzd7 |
T |
A |
1: 59,484,436 (GRCm38) |
F493I |
possibly damaging |
Het |
Galnt14 |
G |
T |
17: 73,507,833 (GRCm38) |
P412T |
probably damaging |
Het |
Gcg |
T |
A |
2: 62,478,631 (GRCm38) |
S60C |
probably damaging |
Het |
Ggt1 |
A |
G |
10: 75,585,899 (GRCm38) |
K527E |
probably benign |
Het |
Gm14085 |
A |
T |
2: 122,522,805 (GRCm38) |
K489* |
probably null |
Het |
Gm16551 |
T |
A |
9: 74,850,871 (GRCm38) |
|
noncoding transcript |
Het |
Gm9972 |
A |
G |
11: 43,036,690 (GRCm38) |
K55E |
unknown |
Het |
Gpr141 |
T |
A |
13: 19,751,714 (GRCm38) |
D297V |
probably benign |
Het |
Grin2b |
G |
A |
6: 135,778,699 (GRCm38) |
S539L |
probably damaging |
Het |
Hhipl1 |
A |
T |
12: 108,319,979 (GRCm38) |
N515I |
possibly damaging |
Het |
Hmcn1 |
T |
G |
1: 150,577,612 (GRCm38) |
E5317D |
probably damaging |
Het |
Hsf5 |
T |
A |
11: 87,622,791 (GRCm38) |
N227K |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,982,458 (GRCm38) |
D129E |
probably benign |
Het |
Invs |
T |
C |
4: 48,397,609 (GRCm38) |
F339L |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,262,256 (GRCm38) |
S17T |
probably benign |
Het |
Nck1 |
T |
C |
9: 100,506,744 (GRCm38) |
I6V |
probably benign |
Het |
Neb |
T |
C |
2: 52,150,577 (GRCm38) |
D6624G |
probably benign |
Het |
Nmur2 |
A |
G |
11: 56,040,835 (GRCm38) |
Y17H |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,806,967 (GRCm38) |
L1298P |
probably damaging |
Het |
Ocel1 |
A |
G |
8: 71,372,753 (GRCm38) |
E161G |
probably damaging |
Het |
Olfr345 |
A |
T |
2: 36,640,979 (GRCm38) |
|
probably null |
Het |
Pabpc2 |
A |
G |
18: 39,774,828 (GRCm38) |
Y382C |
probably benign |
Het |
Panx1 |
A |
G |
9: 15,010,298 (GRCm38) |
|
probably benign |
Het |
Pdhx |
A |
T |
2: 103,042,296 (GRCm38) |
V147D |
probably benign |
Het |
Pigz |
A |
T |
16: 31,945,333 (GRCm38) |
H403L |
probably damaging |
Het |
Pilra |
T |
C |
5: 137,835,507 (GRCm38) |
|
probably null |
Het |
Rbm47 |
T |
C |
5: 66,026,693 (GRCm38) |
D189G |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 69,794,002 (GRCm38) |
L558P |
probably damaging |
Het |
Scarf2 |
G |
A |
16: 17,803,516 (GRCm38) |
R322H |
probably damaging |
Het |
Sept3 |
T |
C |
15: 82,290,457 (GRCm38) |
|
probably null |
Het |
Sirt2 |
T |
C |
7: 28,777,013 (GRCm38) |
F26L |
probably damaging |
Het |
Slc1a1 |
A |
T |
19: 28,894,525 (GRCm38) |
T133S |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,737,869 (GRCm38) |
I84V |
probably benign |
Het |
Slc6a9 |
A |
T |
4: 117,867,895 (GRCm38) |
Q562L |
probably benign |
Het |
Snx29 |
C |
T |
16: 11,349,909 (GRCm38) |
Q25* |
probably null |
Het |
St6galnac6 |
A |
G |
2: 32,618,543 (GRCm38) |
I231V |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,696,123 (GRCm38) |
T954A |
probably benign |
Het |
Sufu |
A |
G |
19: 46,483,630 (GRCm38) |
M443V |
possibly damaging |
Het |
Sv2b |
T |
C |
7: 75,206,518 (GRCm38) |
D8G |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,228,285 (GRCm38) |
R233W |
probably damaging |
Het |
Tex10 |
A |
G |
4: 48,469,990 (GRCm38) |
L25S |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,211,313 (GRCm38) |
V1254D |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,310,553 (GRCm38) |
I307N |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,931,844 (GRCm38) |
D575G |
probably damaging |
Het |
Usf2 |
A |
T |
7: 30,954,772 (GRCm38) |
D166E |
probably damaging |
Het |
Usp25 |
T |
A |
16: 77,114,989 (GRCm38) |
L969M |
probably damaging |
Het |
Usp32 |
G |
A |
11: 84,994,393 (GRCm38) |
P1276L |
probably damaging |
Het |
Vmn2r8 |
T |
A |
5: 108,808,581 (GRCm38) |
E58D |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,011,598 (GRCm38) |
C40F |
probably damaging |
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 |
PIT4362001:Mdga2
|
UTSW |
12 |
66,797,768 (GRCm38) |
missense |
possibly damaging |
0.83 |
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 |
|
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'- ACCTATCCATGTGCAGAAGC -3'
(R):5'- TGGCTCTACAGGGCATCTCTTC -3'
Sequencing Primer
(F):5'- GGTCTAGCAAACTTTATATGCCCCAG -3'
(R):5'- TCAGATGACTAACTGCTGCTTG -3'
|
Posted On |
2015-11-11 |