Incidental Mutation 'RF029:Reep1'
| ID |
604269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reep1
|
| Ensembl Gene |
ENSMUSG00000052852 |
| Gene Name |
receptor accessory protein 1 |
| Synonyms |
D6Ertd253e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71707561-71810710 bp(+) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
CGCCA to CGCCAGCCA
at 71707966 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121469]
[ENSMUST00000212631]
[ENSMUST00000212792]
|
| AlphaFold |
Q8BGH4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000121469
|
| SMART Domains |
Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
7 |
95 |
1.1e-35 |
PFAM |
|
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212631
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212792
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| 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 functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,552,895 (GRCm38) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,287,727 (GRCm38) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 145,450,988 (GRCm38) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,541,351 (GRCm38) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 84,638,724 (GRCm38) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,561,026 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 87,040,430 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 87,040,442 (GRCm38) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,485,833 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,910,123 (GRCm38) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,955,032 (GRCm38) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,475,946 (GRCm38) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,812,892 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,378,139 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,994,008 (GRCm38) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 72,270,059 (GRCm38) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,960,527 (GRCm38) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,671,393 (GRCm38) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,169,442 (GRCm38) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,677,696 (GRCm38) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,125,827 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,042,270 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,697,579 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,697,588 (GRCm38) |
|
probably benign |
Het |
| Lrmp |
TG |
TGAGCACATGG |
6: 145,173,790 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,627,594 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,627,605 (GRCm38) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Pnmal1 |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,961,444 (GRCm38) |
|
probably null |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,631,467 (GRCm38) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 156,096,095 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,835,735 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,835,745 (GRCm38) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,801,323 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
| Znrd1as |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 36,965,071 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Reep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Reep1
|
APN |
6 |
71,773,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03057:Reep1
|
APN |
6 |
71,807,781 (GRCm38) |
splice site |
probably benign |
|
|
R1596:Reep1
|
UTSW |
6 |
71,756,437 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1899:Reep1
|
UTSW |
6 |
71,780,797 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2201:Reep1
|
UTSW |
6 |
71,773,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2252:Reep1
|
UTSW |
6 |
71,756,442 (GRCm38) |
splice site |
probably null |
|
|
R3787:Reep1
|
UTSW |
6 |
71,795,215 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4760:Reep1
|
UTSW |
6 |
71,708,001 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5657:Reep1
|
UTSW |
6 |
71,761,374 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6619:Reep1
|
UTSW |
6 |
71,807,842 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6659:Reep1
|
UTSW |
6 |
71,773,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7080:Reep1
|
UTSW |
6 |
71,780,765 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7299:Reep1
|
UTSW |
6 |
71,761,389 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7730:Reep1
|
UTSW |
6 |
71,780,741 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9333:Reep1
|
UTSW |
6 |
71,795,214 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9486:Reep1
|
UTSW |
6 |
71,707,985 (GRCm38) |
missense |
probably benign |
0.00 |
|
RF019:Reep1
|
UTSW |
6 |
71,707,969 (GRCm38) |
start codon destroyed |
probably null |
|
|
RF023:Reep1
|
UTSW |
6 |
71,707,968 (GRCm38) |
start codon destroyed |
probably null |
|
|
RF032:Reep1
|
UTSW |
6 |
71,707,968 (GRCm38) |
start codon destroyed |
probably null |
|
|
RF042:Reep1
|
UTSW |
6 |
71,707,966 (GRCm38) |
start codon destroyed |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCACACGGTTTCACAAGGAG -3'
(R):5'- CTAAATTTAGCGACCGCCGG -3'
Sequencing Primer
(F):5'- CTGGGACGATCGGAGCAG -3'
(R):5'- CCGGGTATTAATAGCTAGCGACC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation