Incidental Mutation 'IGL01479:Rtn4rl1'
| ID |
88547 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rtn4rl1
|
| Ensembl Gene |
ENSMUSG00000045287 |
| Gene Name |
reticulon 4 receptor-like 1 |
| Synonyms |
Ngr3, Ngrl2, Ngrh2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75084819-75158595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75156168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 200
(D200G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102514]
|
| AlphaFold |
Q8K0S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102514
AA Change: D200G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: D200G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
24 |
58 |
2.74e-2 |
SMART |
|
LRR
|
76 |
98 |
5.57e1 |
SMART |
|
LRR
|
99 |
123 |
1.73e0 |
SMART |
|
LRR
|
124 |
147 |
2.14e0 |
SMART |
|
LRR_TYP
|
148 |
171 |
1.1e-2 |
SMART |
|
LRR_TYP
|
172 |
195 |
6.88e-4 |
SMART |
|
LRR
|
196 |
219 |
2.49e-1 |
SMART |
|
LRR
|
220 |
243 |
5.72e0 |
SMART |
|
LRRCT
|
255 |
305 |
8.21e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display fatty change in the liver, bile duct lesions in females and hepatocytes with enlarged vacuoles and nuclei in the male. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably damaging |
Het |
|
| Other mutations in Rtn4rl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02161:Rtn4rl1
|
APN |
11 |
75,156,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02420:Rtn4rl1
|
APN |
11 |
75,156,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02641:Rtn4rl1
|
APN |
11 |
75,156,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02984:Rtn4rl1
|
UTSW |
11 |
75,156,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0699:Rtn4rl1
|
UTSW |
11 |
75,156,050 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0699:Rtn4rl1
|
UTSW |
11 |
75,156,048 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1669:Rtn4rl1
|
UTSW |
11 |
75,156,753 (GRCm39) |
missense |
probably benign |
|
|
R1925:Rtn4rl1
|
UTSW |
11 |
75,156,864 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2679:Rtn4rl1
|
UTSW |
11 |
75,156,552 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4205:Rtn4rl1
|
UTSW |
11 |
75,156,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Rtn4rl1
|
UTSW |
11 |
75,156,809 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6326:Rtn4rl1
|
UTSW |
11 |
75,156,828 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6703:Rtn4rl1
|
UTSW |
11 |
75,156,354 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7085:Rtn4rl1
|
UTSW |
11 |
75,156,050 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7203:Rtn4rl1
|
UTSW |
11 |
75,156,576 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7320:Rtn4rl1
|
UTSW |
11 |
75,085,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7754:Rtn4rl1
|
UTSW |
11 |
75,155,871 (GRCm39) |
missense |
probably benign |
|
|
R8038:Rtn4rl1
|
UTSW |
11 |
75,156,707 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8244:Rtn4rl1
|
UTSW |
11 |
75,156,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Rtn4rl1
|
UTSW |
11 |
75,156,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Rtn4rl1
|
UTSW |
11 |
75,156,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9240:Rtn4rl1
|
UTSW |
11 |
75,156,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1186:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Rtn4rl1
|
UTSW |
11 |
75,156,863 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation