Incidental Mutation 'IGL02021:Nr1h5'
| ID |
183989 |
| 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 # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 102855058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
| AlphaFold |
E9Q5A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058899
|
| SMART Domains |
Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
| Other mutations in Nr1h5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01829:Nr1h5
|
APN |
3 |
102,856,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2014-05-07 |
Incidental Mutation