Incidental Mutation 'R4242:Lrmda'
| ID |
320257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrmda
|
| Ensembl Gene |
ENSMUSG00000063458 |
| Gene Name |
leucine rich melanocyte differentiation associated |
| Synonyms |
Oca7, 1700112E06Rik |
| MMRRC Submission |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
22069780-23106153 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 22077303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 13
(Y13*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075639]
[ENSMUST00000159777]
[ENSMUST00000161249]
[ENSMUST00000162540]
|
| AlphaFold |
Q9D9B4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075639
AA Change: Y13*
|
| SMART Domains |
Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458
AA Change: Y13*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
82 |
N/A |
INTRINSIC |
|
LRRcap
|
129 |
147 |
6.28e-1 |
SMART |
|
low complexity region
|
167 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159777
AA Change: Y13*
|
| SMART Domains |
Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458
AA Change: Y13*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h6ua2
|
34 |
109 |
1e-8 |
SMART |
|
LRRcap
|
129 |
147 |
6.28e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161249
AA Change: Y13*
|
| SMART Domains |
Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458
AA Change: Y13*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162540
AA Change: Y13*
|
| SMART Domains |
Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458
AA Change: Y13*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
82 |
N/A |
INTRINSIC |
|
LRRcap
|
129 |
147 |
6.28e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225573
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Faim2 |
T |
A |
15: 99,398,082 (GRCm39) |
I289F |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhdc7a |
G |
A |
4: 139,694,032 (GRCm39) |
P305L |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,771 (GRCm39) |
S265P |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,311,857 (GRCm39) |
F188I |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrmda |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Lrmda
|
APN |
14 |
22,646,585 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01982:Lrmda
|
APN |
14 |
22,634,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Lrmda
|
APN |
14 |
22,069,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02826:Lrmda
|
APN |
14 |
22,878,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bowie
|
UTSW |
14 |
22,077,303 (GRCm39) |
nonsense |
probably null |
|
|
Stardust
|
UTSW |
14 |
22,077,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Lrmda
|
UTSW |
14 |
22,627,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3720:Lrmda
|
UTSW |
14 |
22,077,399 (GRCm39) |
splice site |
probably benign |
|
|
R3722:Lrmda
|
UTSW |
14 |
22,077,399 (GRCm39) |
splice site |
probably benign |
|
|
R5393:Lrmda
|
UTSW |
14 |
22,077,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Lrmda
|
UTSW |
14 |
22,648,254 (GRCm39) |
intron |
probably benign |
|
|
R6749:Lrmda
|
UTSW |
14 |
22,077,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7155:Lrmda
|
UTSW |
14 |
22,634,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Lrmda
|
UTSW |
14 |
22,878,770 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7580:Lrmda
|
UTSW |
14 |
22,069,925 (GRCm39) |
start gained |
probably benign |
|
|
R7885:Lrmda
|
UTSW |
14 |
22,648,388 (GRCm39) |
missense |
unknown |
|
|
R7920:Lrmda
|
UTSW |
14 |
22,646,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Lrmda
|
UTSW |
14 |
22,648,361 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGTCAAGCTCACTGTGAC -3'
(R):5'- CTCAAGATCCTGTAAAGAGCTGGG -3'
Sequencing Primer
(F):5'- TCAAGCTCACTGTGACAGGAAAG -3'
(R):5'- TCCTGTAAAGAGCTGGGACCTATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation