Incidental Mutation 'IGL02984:Rtn4rl1'
| ID |
453280 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02984 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75084819-75158595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75156087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102514]
|
| AlphaFold |
Q8K0S5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102514
AA Change: V173A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: V173A
| 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 |
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
Het |
|
| Other mutations in Rtn4rl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Rtn4rl1
|
APN |
11 |
75,156,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGGAGCTAGACCTTG -3'
(R):5'- TCCCATTGAGGCGAAGGAAC -3'
Sequencing Primer
(F):5'- TGGAGACAACCGACAGCTGC -3'
(R):5'- TCACCCTGCAGCTCAGTGAG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation