Incidental Mutation 'R7882:Nr1h5'
| ID |
608811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1h5
|
| Ensembl Gene |
ENSMUSG00000048938 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
| Synonyms |
FXRB |
| MMRRC Submission |
045934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102856931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 194
(T194A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
| AlphaFold |
E9Q5A6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058899
AA Change: T194A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: T194A
| 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: T136A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: T136A
| 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: T194A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: T194A
| 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 damaging
Transcript: ENSMUST00000197412
AA Change: T194A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: T194A
| 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 damaging
Transcript: ENSMUST00000198472
AA Change: T194A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: T194A
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,644,250 (GRCm39) |
E110* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,133,951 (GRCm39) |
V289F |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,607,440 (GRCm39) |
D717G |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,703,780 (GRCm39) |
I389M |
possibly damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,225,023 (GRCm39) |
V47A |
|
Het |
| Cachd1 |
T |
A |
4: 100,824,244 (GRCm39) |
L562M |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,528,357 (GRCm39) |
I326N |
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,922,787 (GRCm39) |
F799S |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,231 (GRCm39) |
I411M |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,669,941 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,330,684 (GRCm39) |
I101V |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,060,592 (GRCm39) |
E1928G |
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,148,464 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,153,824 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,974 (GRCm39) |
W334* |
probably null |
Het |
| Dsp |
G |
A |
13: 38,367,994 (GRCm39) |
R671Q |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,173,568 (GRCm39) |
K1960R |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,045,459 (GRCm39) |
Y1331N |
probably damaging |
Het |
| Ina |
G |
A |
19: 47,004,100 (GRCm39) |
E303K |
|
Het |
| Kctd3 |
C |
A |
1: 188,715,243 (GRCm39) |
V369F |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,399,314 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,443,763 (GRCm39) |
V1312A |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,826 (GRCm39) |
I403V |
probably benign |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,356 (GRCm39) |
T31P |
unknown |
Het |
| Lyrm9 |
A |
T |
11: 78,728,967 (GRCm39) |
I60F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mmp28 |
T |
C |
11: 83,334,752 (GRCm39) |
D334G |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,090,299 (GRCm39) |
I85M |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,822,680 (GRCm39) |
R758C |
probably damaging |
Het |
| Or5b116 |
A |
T |
19: 13,422,951 (GRCm39) |
T192S |
probably benign |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,681 (GRCm39) |
D410G |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,158 (GRCm39) |
V275A |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,679,698 (GRCm39) |
F895I |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,627,000 (GRCm39) |
I1486T |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,256 (GRCm39) |
M1449V |
probably benign |
Het |
| Rspo4 |
C |
A |
2: 151,711,746 (GRCm39) |
T156N |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,444,520 (GRCm39) |
I2189V |
probably benign |
Het |
| Stat5b |
A |
C |
11: 100,674,601 (GRCm39) |
F711V |
possibly damaging |
Het |
| Stk11ip |
C |
A |
1: 75,506,108 (GRCm39) |
Q543K |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,183,232 (GRCm39) |
T529M |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,736,624 (GRCm39) |
C886S |
possibly damaging |
Het |
| Tmem19 |
A |
G |
10: 115,179,608 (GRCm39) |
F296S |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,057,078 (GRCm39) |
N79S |
not run |
Het |
| Vdac3 |
C |
A |
8: 23,069,073 (GRCm39) |
G214C |
probably damaging |
Het |
| Vmn2r18 |
A |
C |
5: 151,485,329 (GRCm39) |
F722V |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,409 (GRCm39) |
L293S |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,454,996 (GRCm39) |
|
probably null |
Het |
| Zfp526 |
G |
A |
7: 24,920,860 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
A |
G |
18: 65,756,561 (GRCm39) |
T165A |
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 |
|
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 |
|
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'- AACAGAGGGCGCCTGTAATG -3'
(R):5'- CACTTCCAAGATGCAACTAATGTG -3'
Sequencing Primer
(F):5'- CCTGTAATGTGTGCTTGTTACAC -3'
(R):5'- CCAAGATGCAACTAATGTGTAAATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation