Incidental Mutation 'R2302:Mlc1'
| ID |
244474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlc1
|
| Ensembl Gene |
ENSMUSG00000035805 |
| Gene Name |
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) |
| Synonyms |
Kiaa0027-hp, WKL1 |
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88840087-88863192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88849640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 231
(V231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042594]
[ENSMUST00000109368]
|
| AlphaFold |
Q8VHK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042594
AA Change: V225A
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: V225A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
203 |
225 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
266 |
288 |
N/A |
INTRINSIC |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109368
AA Change: V231A
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: V231A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1950 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably damaging |
Het |
|
| Other mutations in Mlc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Mlc1
|
APN |
15 |
88,858,921 (GRCm39) |
splice site |
probably benign |
|
|
IGL03251:Mlc1
|
APN |
15 |
88,858,934 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0710:Mlc1
|
UTSW |
15 |
88,862,067 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1037:Mlc1
|
UTSW |
15 |
88,849,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Mlc1
|
UTSW |
15 |
88,842,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Mlc1
|
UTSW |
15 |
88,858,782 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2121:Mlc1
|
UTSW |
15 |
88,847,634 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3110:Mlc1
|
UTSW |
15 |
88,850,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3112:Mlc1
|
UTSW |
15 |
88,850,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3117:Mlc1
|
UTSW |
15 |
88,860,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Mlc1
|
UTSW |
15 |
88,850,697 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4450:Mlc1
|
UTSW |
15 |
88,847,693 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4576:Mlc1
|
UTSW |
15 |
88,858,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Mlc1
|
UTSW |
15 |
88,858,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Mlc1
|
UTSW |
15 |
88,862,234 (GRCm39) |
splice site |
probably null |
|
|
R4910:Mlc1
|
UTSW |
15 |
88,842,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5618:Mlc1
|
UTSW |
15 |
88,858,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Mlc1
|
UTSW |
15 |
88,858,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7746:Mlc1
|
UTSW |
15 |
88,848,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7885:Mlc1
|
UTSW |
15 |
88,862,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCGGAGTCTTTAGGAGAAG -3'
(R):5'- TCCACGGTCAACCTGAACAG -3'
Sequencing Primer
(F):5'- AGAAGGGGGTTCTCTCCTG -3'
(R):5'- TTTTACCCCAGGTGGTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation