Incidental Mutation 'R1253:Rtn4ip1'
| ID |
151850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtn4ip1
|
| Ensembl Gene |
ENSMUSG00000019864 |
| Gene Name |
reticulon 4 interacting protein 1 |
| Synonyms |
NIMP, D10Ertd690e |
| MMRRC Submission |
039320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
43777772-43823860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43786867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 192
(I192L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054418]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054418
AA Change: I192L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060940
Gene: ENSMUSG00000019864
AA Change: I192L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
G |
A |
6: 83,499,869 (GRCm39) |
T127I |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,697,931 (GRCm39) |
K102* |
probably null |
Het |
| Caskin1 |
A |
G |
17: 24,724,047 (GRCm39) |
K945R |
probably damaging |
Het |
| Ccdc137 |
C |
A |
11: 120,349,005 (GRCm39) |
A12E |
probably benign |
Het |
| Cdhr1 |
A |
G |
14: 36,801,582 (GRCm39) |
M787T |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,373 (GRCm39) |
V1958E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,651,502 (GRCm39) |
I1170F |
probably null |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,629 (GRCm39) |
Y347F |
probably damaging |
Het |
| Kntc1 |
AGTGT |
AGT |
5: 123,948,925 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,775,050 (GRCm39) |
Y220C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,351,760 (GRCm39) |
D1592E |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,240,380 (GRCm39) |
Q76* |
probably null |
Het |
| Olfm3 |
A |
T |
3: 114,916,418 (GRCm39) |
D450V |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,884 (GRCm39) |
V220D |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,581 (GRCm39) |
C254R |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,917 (GRCm39) |
I310K |
probably benign |
Het |
| Ormdl1 |
G |
A |
1: 53,344,681 (GRCm39) |
R81K |
possibly damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,874 (GRCm39) |
V7I |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 162,120,146 (GRCm39) |
I107T |
probably damaging |
Het |
| Rbm27 |
A |
C |
18: 42,434,839 (GRCm39) |
D301A |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,380,232 (GRCm39) |
I200N |
probably damaging |
Het |
| Serpinb9e |
T |
C |
13: 33,439,102 (GRCm39) |
F176S |
possibly damaging |
Het |
| Sorcs3 |
C |
A |
19: 48,195,175 (GRCm39) |
A186E |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,838 (GRCm39) |
Y662C |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,256,619 (GRCm39) |
P377S |
possibly damaging |
Het |
| Srrt |
T |
C |
5: 137,298,598 (GRCm39) |
K222R |
probably benign |
Het |
| Tas2r129 |
T |
C |
6: 132,928,999 (GRCm39) |
I312T |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,913,413 (GRCm39) |
P169Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,287,252 (GRCm39) |
M515V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
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 |
|
|
R0005:Rtn4ip1
|
UTSW |
10 |
43,808,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TGCAGTTATCCCTGAACCCAGAGTG -3'
(R):5'- TGCCTAAAATAGGAGAGCGACCCC -3'
Sequencing Primer
(F):5'- ACCCAGAGTGGTTTACGAAGTTC -3'
(R):5'- ACAAGATCCCTTGTAGTCCCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation