Incidental Mutation 'R7797:Mdga1'
| ID |
628629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
045853-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 30061814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073556
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
741 |
911 |
1.02e-52 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073556
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
741 |
911 |
1.02e-52 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167190
|
| SMART Domains |
Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
IGc2
|
325 |
389 |
1.62e-12 |
SMART |
|
IG
|
416 |
510 |
3.2e-2 |
SMART |
|
IGc2
|
527 |
589 |
6.25e-14 |
SMART |
|
IGc2
|
622 |
696 |
3.54e-4 |
SMART |
|
IGc2
|
728 |
795 |
6.55e-8 |
SMART |
|
IGc2
|
825 |
897 |
9.49e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167190
|
| SMART Domains |
Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
IGc2
|
325 |
389 |
1.62e-12 |
SMART |
|
IG
|
416 |
510 |
3.2e-2 |
SMART |
|
IGc2
|
527 |
589 |
6.25e-14 |
SMART |
|
IGc2
|
622 |
696 |
3.54e-4 |
SMART |
|
IGc2
|
728 |
795 |
6.55e-8 |
SMART |
|
IGc2
|
825 |
897 |
9.49e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168044
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171691
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
749 |
919 |
3.61e-53 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171691
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
749 |
919 |
3.61e-53 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuronal migration during corticogenesis that is resolved by P7 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,862,509 (GRCm39) |
|
probably null |
Het |
| Adam3 |
T |
G |
8: 25,184,660 (GRCm39) |
N535T |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,411 (GRCm39) |
E271V |
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,085,387 (GRCm39) |
K679E |
probably damaging |
Het |
| Arnt |
G |
A |
3: 95,387,572 (GRCm39) |
|
probably null |
Het |
| Asah2 |
A |
G |
19: 31,999,761 (GRCm39) |
F321L |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,562,505 (GRCm39) |
S156P |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,255,760 (GRCm39) |
S65A |
probably damaging |
Het |
| Bend7 |
T |
G |
2: 4,754,455 (GRCm39) |
M186R |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,948,232 (GRCm39) |
K146E |
possibly damaging |
Het |
| Cd19 |
A |
G |
7: 126,012,680 (GRCm39) |
W238R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,079 (GRCm39) |
N241I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,220,973 (GRCm39) |
E1257G |
probably benign |
Het |
| Cfap300 |
G |
T |
9: 8,027,130 (GRCm39) |
P136Q |
possibly damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,666,270 (GRCm39) |
V1100A |
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,969,568 (GRCm39) |
V945A |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,232,652 (GRCm39) |
C1116Y |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,046,109 (GRCm39) |
M547V |
possibly damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Grhl3 |
C |
G |
4: 135,286,416 (GRCm39) |
K88N |
possibly damaging |
Het |
| Hbb-y |
T |
A |
7: 103,501,088 (GRCm39) |
Y146F |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,847 (GRCm39) |
V815A |
probably benign |
Het |
| Hoxa7 |
T |
A |
6: 52,192,870 (GRCm39) |
I173F |
probably damaging |
Het |
| Igkv1-110 |
T |
G |
6: 68,247,977 (GRCm39) |
S29A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,708,126 (GRCm39) |
S696P |
probably benign |
Het |
| Kif1b |
T |
A |
4: 149,321,844 (GRCm39) |
Q1025L |
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,028,940 (GRCm39) |
C241S |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,762,287 (GRCm39) |
H400N |
probably benign |
Het |
| Krt35 |
T |
A |
11: 99,985,713 (GRCm39) |
N174Y |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,618 (GRCm39) |
V489A |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,380,241 (GRCm39) |
E739G |
possibly damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,034,022 (GRCm39) |
R607H |
probably damaging |
Het |
| Met |
T |
A |
6: 17,533,952 (GRCm39) |
N634K |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mmp11 |
G |
T |
10: 75,759,314 (GRCm39) |
T107K |
|
Het |
| Mroh2b |
A |
C |
15: 4,978,587 (GRCm39) |
N1378H |
probably benign |
Het |
| Naa15 |
G |
A |
3: 51,356,031 (GRCm39) |
C322Y |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,986 (GRCm39) |
Y87F |
probably damaging |
Het |
| Ngrn |
A |
G |
7: 79,914,185 (GRCm39) |
D112G |
probably benign |
Het |
| Osbpl1a |
C |
A |
18: 13,015,321 (GRCm39) |
C369F |
probably damaging |
Het |
| Pcnx2 |
G |
C |
8: 126,512,087 (GRCm39) |
D1406E |
possibly damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,286,664 (GRCm39) |
D46G |
probably damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,213 (GRCm39) |
P206L |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,746,396 (GRCm39) |
S20G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,222,875 (GRCm39) |
D61N |
possibly damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,387,310 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Rbm22 |
A |
G |
18: 60,694,344 (GRCm39) |
T26A |
probably damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,371,277 (GRCm39) |
R332Q |
possibly damaging |
Het |
| Rrm2b |
A |
T |
15: 37,927,505 (GRCm39) |
L347* |
probably null |
Het |
| Rsf1 |
A |
T |
7: 97,310,692 (GRCm39) |
D474V |
|
Het |
| Ryr2 |
C |
T |
13: 11,816,066 (GRCm39) |
R640Q |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,389,245 (GRCm39) |
E691G |
unknown |
Het |
| Septin1 |
A |
T |
7: 126,813,937 (GRCm39) |
V365E |
unknown |
Het |
| Tlk2 |
A |
G |
11: 105,101,444 (GRCm39) |
H114R |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,864 (GRCm39) |
I135T |
possibly damaging |
Het |
| Tpst2 |
T |
A |
5: 112,455,782 (GRCm39) |
V107E |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,060,407 (GRCm39) |
D456E |
possibly damaging |
Het |
| Ttll3 |
T |
C |
6: 113,371,738 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ulk2 |
A |
G |
11: 61,672,928 (GRCm39) |
Y889H |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,125 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,180,903 (GRCm39) |
I56V |
probably benign |
Het |
| Vmn2r120 |
C |
T |
17: 57,815,874 (GRCm39) |
G827E |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,555 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mdga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Mdga1
|
APN |
17 |
30,062,101 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01637:Mdga1
|
APN |
17 |
30,058,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02130:Mdga1
|
APN |
17 |
30,076,643 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02596:Mdga1
|
APN |
17 |
30,051,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL03258:Mdga1
|
APN |
17 |
30,058,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Mdga1
|
UTSW |
17 |
30,071,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Mdga1
|
UTSW |
17 |
30,076,682 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1017:Mdga1
|
UTSW |
17 |
30,069,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1520:Mdga1
|
UTSW |
17 |
30,065,493 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1545:Mdga1
|
UTSW |
17 |
30,061,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Mdga1
|
UTSW |
17 |
30,056,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Mdga1
|
UTSW |
17 |
30,069,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Mdga1
|
UTSW |
17 |
30,071,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Mdga1
|
UTSW |
17 |
30,068,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Mdga1
|
UTSW |
17 |
30,059,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Mdga1
|
UTSW |
17 |
30,069,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Mdga1
|
UTSW |
17 |
30,068,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:Mdga1
|
UTSW |
17 |
30,071,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Mdga1
|
UTSW |
17 |
30,071,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Mdga1
|
UTSW |
17 |
30,057,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Mdga1
|
UTSW |
17 |
30,076,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Mdga1
|
UTSW |
17 |
30,150,238 (GRCm39) |
missense |
unknown |
|
|
R4063:Mdga1
|
UTSW |
17 |
30,057,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Mdga1
|
UTSW |
17 |
30,052,317 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4183:Mdga1
|
UTSW |
17 |
30,188,964 (GRCm39) |
missense |
unknown |
|
|
R4392:Mdga1
|
UTSW |
17 |
30,069,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Mdga1
|
UTSW |
17 |
30,069,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Mdga1
|
UTSW |
17 |
30,069,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Mdga1
|
UTSW |
17 |
30,061,128 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4829:Mdga1
|
UTSW |
17 |
30,065,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4923:Mdga1
|
UTSW |
17 |
30,057,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4932:Mdga1
|
UTSW |
17 |
30,076,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Mdga1
|
UTSW |
17 |
30,058,847 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5076:Mdga1
|
UTSW |
17 |
30,069,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5141:Mdga1
|
UTSW |
17 |
30,071,467 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5180:Mdga1
|
UTSW |
17 |
30,076,710 (GRCm39) |
splice site |
probably benign |
|
|
R5590:Mdga1
|
UTSW |
17 |
30,058,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Mdga1
|
UTSW |
17 |
30,069,525 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5748:Mdga1
|
UTSW |
17 |
30,069,525 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6207:Mdga1
|
UTSW |
17 |
30,057,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Mdga1
|
UTSW |
17 |
30,189,000 (GRCm39) |
missense |
unknown |
|
|
R6831:Mdga1
|
UTSW |
17 |
30,106,490 (GRCm39) |
nonsense |
probably null |
|
|
R7114:Mdga1
|
UTSW |
17 |
30,061,816 (GRCm39) |
splice site |
probably null |
|
|
R7147:Mdga1
|
UTSW |
17 |
30,065,495 (GRCm39) |
nonsense |
probably null |
|
|
R7273:Mdga1
|
UTSW |
17 |
30,188,912 (GRCm39) |
missense |
unknown |
|
|
R7413:Mdga1
|
UTSW |
17 |
30,069,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Mdga1
|
UTSW |
17 |
30,051,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7812:Mdga1
|
UTSW |
17 |
30,062,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7838:Mdga1
|
UTSW |
17 |
30,058,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8463:Mdga1
|
UTSW |
17 |
30,068,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Mdga1
|
UTSW |
17 |
30,065,615 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8699:Mdga1
|
UTSW |
17 |
30,061,348 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8864:Mdga1
|
UTSW |
17 |
30,150,295 (GRCm39) |
missense |
unknown |
|
|
R8945:Mdga1
|
UTSW |
17 |
30,058,959 (GRCm39) |
splice site |
probably benign |
|
|
R9150:Mdga1
|
UTSW |
17 |
30,057,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9157:Mdga1
|
UTSW |
17 |
30,057,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Mdga1
|
UTSW |
17 |
30,058,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Mdga1
|
UTSW |
17 |
30,069,512 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9367:Mdga1
|
UTSW |
17 |
30,051,282 (GRCm39) |
makesense |
probably null |
|
|
R9567:Mdga1
|
UTSW |
17 |
30,076,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Mdga1
|
UTSW |
17 |
30,051,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCTGTGAGCTTGGAG -3'
(R):5'- AGTGCGAAGTTCGTGGCAAG -3'
Sequencing Primer
(F):5'- TGGAGCATTGACTAGAAAACTGGTTC -3'
(R):5'- CTCCAGTGCTATGGTCTCGG -3'
|
| Posted On |
2020-05-27 |
Incidental Mutation