Incidental Mutation 'R0005:Rtn4ip1'
| ID |
63936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4ip1
|
| Ensembl Gene |
ENSMUSG00000019864 |
| Gene Name |
reticulon 4 interacting protein 1 |
| Synonyms |
NIMP, D10Ertd690e |
| MMRRC Submission |
038301-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0005 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
43777772-43823860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43808474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 84
(M84L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054418]
[ENSMUST00000105492]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054418
AA Change: M308L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000060940
Gene: ENSMUSG00000019864
AA Change: M308L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
71 |
168 |
5.8e-11 |
PFAM |
|
Pfam:ADH_zinc_N
|
216 |
324 |
1.5e-16 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
247 |
393 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105492
AA Change: M84L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101131
Gene: ENSMUSG00000019864
AA Change: M84L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
1 |
109 |
6.7e-12 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
23 |
169 |
4.1e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, mental retardation, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
| Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
| Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
| Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
| Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
| Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
| Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
| Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly damaging |
Het |
|
| Other mutations in Rtn4ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01670:Rtn4ip1
|
APN |
10 |
43,804,322 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0049:Rtn4ip1
|
UTSW |
10 |
43,797,430 (GRCm39) |
missense |
probably null |
1.00 |
|
R0049:Rtn4ip1
|
UTSW |
10 |
43,797,430 (GRCm39) |
missense |
probably null |
1.00 |
|
R1253:Rtn4ip1
|
UTSW |
10 |
43,786,867 (GRCm39) |
missense |
probably benign |
|
|
R1756:Rtn4ip1
|
UTSW |
10 |
43,786,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Rtn4ip1
|
UTSW |
10 |
43,808,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2119:Rtn4ip1
|
UTSW |
10 |
43,811,993 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3950:Rtn4ip1
|
UTSW |
10 |
43,785,893 (GRCm39) |
splice site |
probably null |
|
|
R3951:Rtn4ip1
|
UTSW |
10 |
43,785,893 (GRCm39) |
splice site |
probably null |
|
|
R3952:Rtn4ip1
|
UTSW |
10 |
43,785,893 (GRCm39) |
splice site |
probably null |
|
|
R5283:Rtn4ip1
|
UTSW |
10 |
43,778,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5345:Rtn4ip1
|
UTSW |
10 |
43,808,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Rtn4ip1
|
UTSW |
10 |
43,783,879 (GRCm39) |
missense |
probably benign |
|
|
R7299:Rtn4ip1
|
UTSW |
10 |
43,812,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7301:Rtn4ip1
|
UTSW |
10 |
43,812,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8506:Rtn4ip1
|
UTSW |
10 |
43,804,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8803:Rtn4ip1
|
UTSW |
10 |
43,783,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Rtn4ip1
|
UTSW |
10 |
43,822,415 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTAAAGAGGCTCTGTGACCC -3'
(R):5'- TCAGGCTGCTGAGAAAGCAAACC -3'
Sequencing Primer
(F):5'- CCGGGTAGAGACTGGCAG -3'
(R):5'- acacagattagcaacctcacc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation