Incidental Mutation 'R5034:Magel2'
| ID |
389445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Magel2
|
| Ensembl Gene |
ENSMUSG00000056972 |
| Gene Name |
MAGE family member L2 |
| Synonyms |
NDNL1, nM15, ns7, Mage-l2 |
| MMRRC Submission |
042625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
62026758-62031388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62029616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 840
(H840L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080403]
|
| AlphaFold |
Q9QZ04 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000080403
AA Change: H840L
|
| SMART Domains |
Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: H840L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
84 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
85 |
131 |
2.45e-10 |
PROSPERO |
|
low complexity region
|
134 |
205 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
298 |
2.45e-10 |
PROSPERO |
|
internal_repeat_2
|
289 |
332 |
6.32e-5 |
PROSPERO |
|
low complexity region
|
347 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
492 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
494 |
535 |
6.32e-5 |
PROSPERO |
|
low complexity region
|
560 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
920 |
N/A |
INTRINSIC |
|
MAGE
|
1059 |
1229 |
6.82e-65 |
SMART |
|
low complexity region
|
1262 |
1284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207232
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (67/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethalityassociated with weak suckling activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
| Adam6b |
G |
T |
12: 113,454,547 (GRCm39) |
G455C |
probably damaging |
Het |
| Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,193 (GRCm39) |
S1312G |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
| Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
| Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
| Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
| Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
| Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
| Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
| Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
| Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
| Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
| Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
| Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,253,377 (GRCm39) |
V218A |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
| Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
| Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
| Usf3 |
A |
C |
16: 44,036,762 (GRCm39) |
K414T |
probably damaging |
Het |
| Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
| Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
| Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
probably damaging |
Het |
|
| Other mutations in Magel2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Magel2
|
APN |
7 |
62,029,070 (GRCm39) |
missense |
unknown |
|
|
IGL01391:Magel2
|
APN |
7 |
62,030,632 (GRCm39) |
missense |
unknown |
|
|
IGL01876:Magel2
|
APN |
7 |
62,028,575 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02613:Magel2
|
APN |
7 |
62,029,946 (GRCm39) |
missense |
unknown |
|
|
IGL02617:Magel2
|
APN |
7 |
62,029,946 (GRCm39) |
missense |
unknown |
|
|
IGL03256:Magel2
|
APN |
7 |
62,030,162 (GRCm39) |
missense |
unknown |
|
|
IGL03382:Magel2
|
APN |
7 |
62,028,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
astroclast2
|
UTSW |
7 |
62,029,907 (GRCm39) |
missense |
unknown |
|
|
IGL02837:Magel2
|
UTSW |
7 |
62,028,008 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0398:Magel2
|
UTSW |
7 |
62,030,299 (GRCm39) |
nonsense |
probably null |
|
|
R0463:Magel2
|
UTSW |
7 |
62,027,778 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1033:Magel2
|
UTSW |
7 |
62,029,798 (GRCm39) |
missense |
unknown |
|
|
R1271:Magel2
|
UTSW |
7 |
62,030,762 (GRCm39) |
missense |
unknown |
|
|
R1518:Magel2
|
UTSW |
7 |
62,030,188 (GRCm39) |
missense |
unknown |
|
|
R1539:Magel2
|
UTSW |
7 |
62,028,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1682:Magel2
|
UTSW |
7 |
62,029,983 (GRCm39) |
missense |
unknown |
|
|
R1686:Magel2
|
UTSW |
7 |
62,027,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1782:Magel2
|
UTSW |
7 |
62,030,605 (GRCm39) |
nonsense |
probably null |
|
|
R1785:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R1786:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R1950:Magel2
|
UTSW |
7 |
62,028,163 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2001:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2002:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2018:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2019:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2029:Magel2
|
UTSW |
7 |
62,030,342 (GRCm39) |
missense |
unknown |
|
|
R2070:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2131:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R2132:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R2133:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R2134:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
|
R2155:Magel2
|
UTSW |
7 |
62,030,540 (GRCm39) |
missense |
unknown |
|
|
R4294:Magel2
|
UTSW |
7 |
62,028,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4591:Magel2
|
UTSW |
7 |
62,030,837 (GRCm39) |
missense |
unknown |
|
|
R4621:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
|
R4816:Magel2
|
UTSW |
7 |
62,030,840 (GRCm39) |
missense |
unknown |
|
|
R4931:Magel2
|
UTSW |
7 |
62,030,372 (GRCm39) |
missense |
unknown |
|
|
R5031:Magel2
|
UTSW |
7 |
62,029,852 (GRCm39) |
missense |
unknown |
|
|
R5042:Magel2
|
UTSW |
7 |
62,029,354 (GRCm39) |
missense |
unknown |
|
|
R5600:Magel2
|
UTSW |
7 |
62,029,514 (GRCm39) |
missense |
unknown |
|
|
R5769:Magel2
|
UTSW |
7 |
62,027,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5980:Magel2
|
UTSW |
7 |
62,030,344 (GRCm39) |
missense |
unknown |
|
|
R5987:Magel2
|
UTSW |
7 |
62,028,515 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6187:Magel2
|
UTSW |
7 |
62,027,389 (GRCm39) |
missense |
unknown |
|
|
R6267:Magel2
|
UTSW |
7 |
62,028,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6270:Magel2
|
UTSW |
7 |
62,030,406 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Magel2
|
UTSW |
7 |
62,028,467 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6444:Magel2
|
UTSW |
7 |
62,029,747 (GRCm39) |
missense |
unknown |
|
|
R6452:Magel2
|
UTSW |
7 |
62,030,132 (GRCm39) |
missense |
unknown |
|
|
R6797:Magel2
|
UTSW |
7 |
62,029,907 (GRCm39) |
missense |
unknown |
|
|
R6917:Magel2
|
UTSW |
7 |
62,027,592 (GRCm39) |
small deletion |
probably benign |
|
|
R7011:Magel2
|
UTSW |
7 |
62,028,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7025:Magel2
|
UTSW |
7 |
62,029,535 (GRCm39) |
missense |
unknown |
|
|
R7335:Magel2
|
UTSW |
7 |
62,030,524 (GRCm39) |
missense |
unknown |
|
|
R7353:Magel2
|
UTSW |
7 |
62,029,079 (GRCm39) |
missense |
unknown |
|
|
R7413:Magel2
|
UTSW |
7 |
62,027,592 (GRCm39) |
small deletion |
probably benign |
|
|
R7570:Magel2
|
UTSW |
7 |
62,028,658 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7714:Magel2
|
UTSW |
7 |
62,028,130 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7836:Magel2
|
UTSW |
7 |
62,028,116 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8289:Magel2
|
UTSW |
7 |
62,028,875 (GRCm39) |
missense |
unknown |
|
|
R8717:Magel2
|
UTSW |
7 |
62,027,420 (GRCm39) |
missense |
unknown |
|
|
R8903:Magel2
|
UTSW |
7 |
62,029,441 (GRCm39) |
missense |
unknown |
|
|
R8911:Magel2
|
UTSW |
7 |
62,029,537 (GRCm39) |
missense |
unknown |
|
|
R8971:Magel2
|
UTSW |
7 |
62,029,999 (GRCm39) |
missense |
unknown |
|
|
R9096:Magel2
|
UTSW |
7 |
62,030,297 (GRCm39) |
missense |
unknown |
|
|
R9264:Magel2
|
UTSW |
7 |
62,028,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF022:Magel2
|
UTSW |
7 |
62,029,841 (GRCm39) |
missense |
unknown |
|
|
Z1088:Magel2
|
UTSW |
7 |
62,028,725 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Magel2
|
UTSW |
7 |
62,029,355 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACGTATGGCTCCATCAG -3'
(R):5'- GCACTGACTTACATGCTGATG -3'
Sequencing Primer
(F):5'- TTCTCTAGAACCTCGGGGC -3'
(R):5'- ACATGCTGATGAGGCATTTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation