Incidental Mutation 'IGL01829:Nr1h5'
| ID |
154736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr1h5
|
| Ensembl Gene |
ENSMUSG00000048938 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
| Synonyms |
FXRB |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL01829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102856395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 295
(I295L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
| AlphaFold |
E9Q5A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058899
AA Change: I295L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: I295L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
5e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
2.51e-36 |
SMART |
|
HOLI
|
289 |
474 |
1.74e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196135
AA Change: I237L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: I237L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
78 |
132 |
1.17e-7 |
SMART |
|
HOLI
|
231 |
416 |
1.74e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196983
AA Change: I295L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: I295L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
5e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
2.51e-36 |
SMART |
|
HOLI
|
289 |
466 |
1.76e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197412
AA Change: I295L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: I295L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
4e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
1e-38 |
SMART |
|
Pfam:Hormone_recep
|
274 |
362 |
6e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198472
AA Change: I295L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: I295L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
4e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
1e-38 |
SMART |
|
Pfam:Hormone_recep
|
273 |
367 |
5.8e-6 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
| Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
| Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
| Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
| Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
| Other mutations in Nr1h5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Nr1h5
|
APN |
3 |
102,855,058 (GRCm39) |
intron |
probably benign |
|
|
IGL02025:Nr1h5
|
APN |
3 |
102,856,942 (GRCm39) |
splice site |
probably benign |
|
|
IGL02094:Nr1h5
|
APN |
3 |
102,859,512 (GRCm39) |
nonsense |
probably null |
|
|
R0035:Nr1h5
|
UTSW |
3 |
102,856,889 (GRCm39) |
nonsense |
probably null |
|
|
R0035:Nr1h5
|
UTSW |
3 |
102,856,889 (GRCm39) |
nonsense |
probably null |
|
|
R1200:Nr1h5
|
UTSW |
3 |
102,855,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Nr1h5
|
UTSW |
3 |
102,855,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Nr1h5
|
UTSW |
3 |
102,859,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4556:Nr1h5
|
UTSW |
3 |
102,853,457 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5018:Nr1h5
|
UTSW |
3 |
102,855,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Nr1h5
|
UTSW |
3 |
102,856,442 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5617:Nr1h5
|
UTSW |
3 |
102,855,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Nr1h5
|
UTSW |
3 |
102,856,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Nr1h5
|
UTSW |
3 |
102,856,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6442:Nr1h5
|
UTSW |
3 |
102,848,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Nr1h5
|
UTSW |
3 |
102,856,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6789:Nr1h5
|
UTSW |
3 |
102,865,677 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7235:Nr1h5
|
UTSW |
3 |
102,856,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7294:Nr1h5
|
UTSW |
3 |
102,852,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7756:Nr1h5
|
UTSW |
3 |
102,856,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Nr1h5
|
UTSW |
3 |
102,856,931 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8187:Nr1h5
|
UTSW |
3 |
102,861,986 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8738:Nr1h5
|
UTSW |
3 |
102,862,015 (GRCm39) |
missense |
probably benign |
|
|
R9051:Nr1h5
|
UTSW |
3 |
102,853,427 (GRCm39) |
missense |
probably null |
0.00 |
|
R9549:Nr1h5
|
UTSW |
3 |
102,848,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0061:Nr1h5
|
UTSW |
3 |
102,852,564 (GRCm39) |
splice site |
probably null |
|
|
X0067:Nr1h5
|
UTSW |
3 |
102,856,442 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2014-02-04 |
Incidental Mutation