Incidental Mutation 'R6951:Mag'
| ID |
541263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mag
|
| Ensembl Gene |
ENSMUSG00000036634 |
| Gene Name |
myelin-associated glycoprotein |
| Synonyms |
Gma, siglec-4a |
| MMRRC Submission |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30598601-30614298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30610858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 128
(T128I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040548]
[ENSMUST00000187137]
[ENSMUST00000188569]
[ENSMUST00000190638]
[ENSMUST00000190950]
[ENSMUST00000191081]
|
| AlphaFold |
P20917 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040548
AA Change: T128I
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041464
Gene: ENSMUSG00000036634
AA Change: T128I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
135 |
1.67e0 |
SMART |
|
IG
|
144 |
237 |
4.38e0 |
SMART |
|
IGc2
|
252 |
312 |
5.74e-13 |
SMART |
|
IGc2
|
338 |
399 |
7.64e-9 |
SMART |
|
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187137
AA Change: T128I
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139564
Gene: ENSMUSG00000036634
AA Change: T128I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
135 |
1.67e0 |
SMART |
|
IG
|
144 |
237 |
4.38e0 |
SMART |
|
IGc2
|
252 |
312 |
5.74e-13 |
SMART |
|
IGc2
|
338 |
399 |
7.64e-9 |
SMART |
|
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188569
AA Change: T128I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140526
Gene: ENSMUSG00000036634
AA Change: T128I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
135 |
1.67e0 |
SMART |
|
Blast:IG
|
152 |
195 |
1e-19 |
BLAST |
|
IGc2
|
210 |
270 |
5.74e-13 |
SMART |
|
IGc2
|
296 |
357 |
7.64e-9 |
SMART |
|
transmembrane domain
|
469 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190638
AA Change: T128I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140578
Gene: ENSMUSG00000036634
AA Change: T128I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
135 |
6.7e-3 |
SMART |
|
Blast:IG
|
144 |
168 |
5e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190950
|
| SMART Domains |
Protein: ENSMUSP00000139861
Gene: ENSMUSG00000036634
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
1 |
64 |
3e-39 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191081
AA Change: T128I
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139881
Gene: ENSMUSG00000036634
AA Change: T128I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
135 |
6.7e-3 |
SMART |
|
IG
|
144 |
237 |
1.8e-2 |
SMART |
|
IGc2
|
252 |
312 |
2.4e-15 |
SMART |
|
IGc2
|
338 |
399 |
3e-11 |
SMART |
|
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
591 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a type I membrane protein and member of the immunoglobulin-like superfamily. It is expressed in myelinating glial cells, including oligodendrocytes of the central nervous system and Schwann cells of the peripheral nervous system. Mice lacking the encoded protein express abundant myelin, but suffer long-term axon degeneration, altered distribution of channels and adhesion molecules at nodes of Ranvier, and altered axon cytoskeletal structure. While not required for myelination, the encoded protein enhances axon-myelin stability, helps to structure nodes of Ranvier, and regulates the axon cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed CNS myelination, late myelin degeneration in peripheral nerves, hypomyelination of optic nerves, and subtle intention tremors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,840 (GRCm39) |
V174A |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,254 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,887,714 (GRCm39) |
I48V |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Rffl |
A |
G |
11: 82,736,576 (GRCm39) |
|
probably null |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
probably benign |
Het |
|
| Other mutations in Mag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01716:Mag
|
APN |
7 |
30,599,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02036:Mag
|
APN |
7 |
30,607,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03263:Mag
|
APN |
7 |
30,598,953 (GRCm39) |
splice site |
probably null |
|
|
regie
|
UTSW |
7 |
30,600,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0005:Mag
|
UTSW |
7 |
30,607,779 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Mag
|
UTSW |
7 |
30,606,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Mag
|
UTSW |
7 |
30,601,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1874:Mag
|
UTSW |
7 |
30,608,476 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2170:Mag
|
UTSW |
7 |
30,608,412 (GRCm39) |
nonsense |
probably null |
|
|
R2192:Mag
|
UTSW |
7 |
30,600,066 (GRCm39) |
nonsense |
probably null |
|
|
R3176:Mag
|
UTSW |
7 |
30,601,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3177:Mag
|
UTSW |
7 |
30,601,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3276:Mag
|
UTSW |
7 |
30,601,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3277:Mag
|
UTSW |
7 |
30,601,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4540:Mag
|
UTSW |
7 |
30,600,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4635:Mag
|
UTSW |
7 |
30,606,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Mag
|
UTSW |
7 |
30,608,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Mag
|
UTSW |
7 |
30,599,793 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4940:Mag
|
UTSW |
7 |
30,608,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Mag
|
UTSW |
7 |
30,608,581 (GRCm39) |
nonsense |
probably null |
|
|
R6301:Mag
|
UTSW |
7 |
30,600,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Mag
|
UTSW |
7 |
30,606,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7562:Mag
|
UTSW |
7 |
30,608,559 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8312:Mag
|
UTSW |
7 |
30,610,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Mag
|
UTSW |
7 |
30,599,793 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0024:Mag
|
UTSW |
7 |
30,606,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATTCATATGGCCCACGTG -3'
(R):5'- TTTCAATAGTCCCTACCCCAAG -3'
Sequencing Primer
(F):5'- GGCACTGGGGTTTGCAC -3'
(R):5'- CAAGAACTACCCACCGGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation