Incidental Mutation 'R6442:Nr1h5'
| ID |
519047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1h5
|
| Ensembl Gene |
ENSMUSG00000048938 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
| Synonyms |
FXRB |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102848427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 418
(P418L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
| AlphaFold |
E9Q5A6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058899
AA Change: P426L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: P426L
| 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 |
probably damaging
Transcript: ENSMUST00000196135
AA Change: P368L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: P368L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
78 |
132 |
1.17e-7 |
SMART |
|
HOLI
|
231 |
416 |
1.74e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196983
AA Change: P418L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: P418L
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAAGGATTTCAGAGTGGC -3'
(R):5'- TATGGCTGTTATATCCCCAACC -3'
Sequencing Primer
(F):5'- CTGTGACTCAGAGTTCTCAGTTCAG -3'
(R):5'- CCTACATTTCAGGGAGCTAATCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation