Incidental Mutation 'R0418:Rmnd1'
| ID |
36877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmnd1
|
| Ensembl Gene |
ENSMUSG00000019763 |
| Gene Name |
required for meiotic nuclear division 1 homolog |
| Synonyms |
0610042C05Rik |
| MMRRC Submission |
038620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.697)
|
| Stock # |
R0418 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4353168-4382583 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 4377693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042251]
[ENSMUST00000042251]
[ENSMUST00000095893]
[ENSMUST00000117489]
[ENSMUST00000118544]
[ENSMUST00000126102]
[ENSMUST00000126102]
[ENSMUST00000126102]
[ENSMUST00000126102]
[ENSMUST00000131853]
[ENSMUST00000131853]
[ENSMUST00000131853]
[ENSMUST00000131853]
[ENSMUST00000155172]
[ENSMUST00000155172]
[ENSMUST00000155172]
[ENSMUST00000155172]
[ENSMUST00000152294]
|
| AlphaFold |
Q8CI78 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042251
|
| SMART Domains |
Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF155
|
227 |
404 |
3.2e-49 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042251
|
| SMART Domains |
Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF155
|
227 |
404 |
3.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095893
|
| SMART Domains |
Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
417 |
1.3e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117489
|
| SMART Domains |
Protein: ENSMUSP00000114025
Gene: ENSMUSG00000061759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
136 |
7.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118544
|
| SMART Domains |
Protein: ENSMUSP00000114073
Gene: ENSMUSG00000061759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
187 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126102
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126102
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126102
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126102
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131853
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131853
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131853
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132184
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155172
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155172
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155172
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152294
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
| Validation Efficiency |
98% (64/65) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
G |
T |
2: 103,953,675 (GRCm39) |
|
probably null |
Het |
| Abca14 |
T |
C |
7: 119,806,657 (GRCm39) |
L19P |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,763,281 (GRCm39) |
V603E |
probably damaging |
Het |
| Acsl5 |
A |
G |
19: 55,261,238 (GRCm39) |
D65G |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,859,773 (GRCm39) |
Y311C |
probably damaging |
Het |
| Ak8 |
T |
G |
2: 28,623,868 (GRCm39) |
I151S |
possibly damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,546,875 (GRCm39) |
R393G |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,767,353 (GRCm39) |
L1164Q |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| Atf5 |
A |
G |
7: 44,462,821 (GRCm39) |
M101T |
possibly damaging |
Het |
| Det1 |
T |
C |
7: 78,493,765 (GRCm39) |
T80A |
probably benign |
Het |
| Dpp9 |
C |
T |
17: 56,501,404 (GRCm39) |
|
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,370,591 (GRCm39) |
R244G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,158,192 (GRCm39) |
N1139K |
probably damaging |
Het |
| Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
| Fli1 |
T |
C |
9: 32,363,425 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
G |
9: 26,705,397 (GRCm39) |
D151A |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,768,220 (GRCm39) |
T669I |
possibly damaging |
Het |
| Igsf3 |
C |
A |
3: 101,342,751 (GRCm39) |
R463S |
probably damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,365,662 (GRCm39) |
V3A |
unknown |
Het |
| Irx3 |
G |
A |
8: 92,526,708 (GRCm39) |
S332F |
probably benign |
Het |
| Katnb1 |
C |
T |
8: 95,822,286 (GRCm39) |
T303M |
possibly damaging |
Het |
| Lrrc31 |
A |
T |
3: 30,743,383 (GRCm39) |
L194Q |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,394,264 (GRCm39) |
E387A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,910,763 (GRCm39) |
I17T |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,483,401 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,918 (GRCm39) |
T1490A |
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,539,333 (GRCm39) |
V399A |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,117,477 (GRCm39) |
S396P |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,284,169 (GRCm39) |
K1E |
probably null |
Het |
| Nr2c1 |
A |
T |
10: 94,017,374 (GRCm39) |
M371L |
probably benign |
Het |
| Oplah |
C |
T |
15: 76,182,687 (GRCm39) |
R924H |
probably benign |
Het |
| Or10ak16 |
C |
T |
4: 118,750,448 (GRCm39) |
T56I |
possibly damaging |
Het |
| Or51a10 |
G |
A |
7: 103,698,979 (GRCm39) |
T194I |
probably benign |
Het |
| Pappa2 |
C |
A |
1: 158,544,560 (GRCm39) |
C1756F |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,289,361 (GRCm39) |
R680C |
probably damaging |
Het |
| Rassf3 |
G |
A |
10: 121,253,075 (GRCm39) |
T44M |
probably benign |
Het |
| Rnf126 |
C |
T |
10: 79,598,477 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
T |
C |
13: 47,397,966 (GRCm39) |
S299P |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,848,981 (GRCm39) |
|
probably benign |
Het |
| Scel |
T |
A |
14: 103,840,690 (GRCm39) |
S511T |
probably benign |
Het |
| Slc16a10 |
G |
T |
10: 39,916,627 (GRCm39) |
S138* |
probably null |
Het |
| Slc36a4 |
A |
T |
9: 15,645,562 (GRCm39) |
I330F |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,722,420 (GRCm39) |
I84M |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,982,579 (GRCm39) |
|
probably benign |
Het |
| Suco |
C |
T |
1: 161,662,419 (GRCm39) |
V671I |
probably benign |
Het |
| Suox |
G |
A |
10: 128,506,754 (GRCm39) |
P425S |
probably damaging |
Het |
| Tmem266 |
T |
A |
9: 55,344,697 (GRCm39) |
V443E |
probably benign |
Het |
| Tmprss11f |
A |
T |
5: 86,704,870 (GRCm39) |
I16N |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,625,029 (GRCm39) |
Y321* |
probably null |
Het |
| Tnrc6b |
T |
C |
15: 80,797,524 (GRCm39) |
M1357T |
probably benign |
Het |
| Tpbg |
C |
A |
9: 85,726,803 (GRCm39) |
Y257* |
probably null |
Het |
| Usp37 |
A |
T |
1: 74,529,266 (GRCm39) |
S138T |
probably benign |
Het |
| Veph1 |
T |
A |
3: 66,162,449 (GRCm39) |
R70* |
probably null |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,747 (GRCm39) |
P682S |
probably damaging |
Het |
| Vmn2r79 |
A |
C |
7: 86,651,611 (GRCm39) |
N337H |
probably benign |
Het |
| Vstm2b |
A |
G |
7: 40,551,876 (GRCm39) |
D68G |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,236,933 (GRCm39) |
A167S |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,795,586 (GRCm39) |
I358N |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (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 |
|
|
R2036:Rmnd1
|
UTSW |
10 |
4,357,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Rmnd1
|
UTSW |
10 |
4,377,466 (GRCm39) |
missense |
probably benign |
|
|
R2319:Rmnd1
|
UTSW |
10 |
4,372,099 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- AAATGTTGCTGTATTGTCAGGCCATTG -3'
(R):5'- CCGTGTCTTGTACTCAGCTCTGTG -3'
Sequencing Primer
(F):5'- GCCTTTGCTGATATGCTGTG -3'
(R):5'- ggaggcaggaacaagcag -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation