Incidental Mutation 'R2319:Rmnd1'
| ID |
245588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmnd1
|
| Ensembl Gene |
ENSMUSG00000019763 |
| Gene Name |
required for meiotic nuclear division 1 homolog |
| Synonyms |
0610042C05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.603)
|
| Stock # |
R2319 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4353168-4382583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4372099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 200
(V200A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042251]
|
| AlphaFold |
Q8CI78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042251
AA Change: V200A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: V200A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF155
|
227 |
404 |
3.2e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156940
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,897,505 (GRCm39) |
H273Q |
probably damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,785,999 (GRCm39) |
S679P |
possibly damaging |
Het |
| Chac2 |
T |
A |
11: 30,936,252 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,417 (GRCm39) |
T532A |
unknown |
Het |
| Dsg1c |
A |
T |
18: 20,408,235 (GRCm39) |
Y428F |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Gm7489 |
A |
T |
15: 53,748,445 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
T |
G |
5: 18,224,624 (GRCm39) |
D341E |
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,033,818 (GRCm39) |
P1020S |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,055,408 (GRCm39) |
F273L |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,319 (GRCm39) |
S309G |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,226,735 (GRCm39) |
I1051V |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,154 (GRCm39) |
D436G |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,006,222 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
G |
A |
17: 29,257,520 (GRCm39) |
R88Q |
unknown |
Het |
| Stxbp2 |
T |
C |
8: 3,683,834 (GRCm39) |
I90T |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,677,618 (GRCm39) |
M1K |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,491,200 (GRCm39) |
S119L |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,083 (GRCm39) |
M1V |
probably null |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rmnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Rmnd1
|
APN |
10 |
4,377,290 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01018:Rmnd1
|
APN |
10 |
4,377,392 (GRCm39) |
missense |
probably benign |
|
|
IGL01112:Rmnd1
|
APN |
10 |
4,360,793 (GRCm39) |
splice site |
probably null |
|
|
R0418:Rmnd1
|
UTSW |
10 |
4,377,693 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2036:Rmnd1
|
UTSW |
10 |
4,357,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Rmnd1
|
UTSW |
10 |
4,377,466 (GRCm39) |
missense |
probably benign |
|
|
R4191:Rmnd1
|
UTSW |
10 |
4,360,809 (GRCm39) |
unclassified |
probably benign |
|
|
R5077:Rmnd1
|
UTSW |
10 |
4,377,488 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5620:Rmnd1
|
UTSW |
10 |
4,372,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Rmnd1
|
UTSW |
10 |
4,377,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6291:Rmnd1
|
UTSW |
10 |
4,372,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Rmnd1
|
UTSW |
10 |
4,353,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Rmnd1
|
UTSW |
10 |
4,360,753 (GRCm39) |
missense |
probably benign |
|
|
R7260:Rmnd1
|
UTSW |
10 |
4,364,803 (GRCm39) |
splice site |
probably null |
|
|
R7540:Rmnd1
|
UTSW |
10 |
4,353,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Rmnd1
|
UTSW |
10 |
4,363,404 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7719:Rmnd1
|
UTSW |
10 |
4,377,496 (GRCm39) |
missense |
probably benign |
|
|
R7777:Rmnd1
|
UTSW |
10 |
4,361,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7809:Rmnd1
|
UTSW |
10 |
4,357,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Rmnd1
|
UTSW |
10 |
4,377,278 (GRCm39) |
nonsense |
probably null |
|
|
R8993:Rmnd1
|
UTSW |
10 |
4,357,918 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9058:Rmnd1
|
UTSW |
10 |
4,363,398 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0026:Rmnd1
|
UTSW |
10 |
4,377,676 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTCAAGTGACAGTGATCC -3'
(R):5'- CTTTGCAGAGTAGAGTTCCCTAGTG -3'
Sequencing Primer
(F):5'- TGGCTTTGAACTCACTGAGACCAG -3'
(R):5'- CTAGTGGGGTCCAGCTACCATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation