Incidental Mutation 'R6789:Nr1h5'
ID |
532926 |
Institutional Source |
Beutler Lab
|
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 # |
R6789 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102865677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 8
(T8M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
AlphaFold |
E9Q5A6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058899
AA Change: T8M
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000052557 Gene: ENSMUSG00000048938 AA Change: T8M
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 |
possibly damaging
Transcript: ENSMUST00000196135
AA Change: T8M
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143445 Gene: ENSMUSG00000048938 AA Change: T8M
Domain | Start | End | E-Value | Type |
ZnF_C4
|
78 |
132 |
1.17e-7 |
SMART |
HOLI
|
231 |
416 |
1.74e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196983
AA Change: T8M
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142799 Gene: ENSMUSG00000048938 AA Change: T8M
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 |
possibly damaging
Transcript: ENSMUST00000197412
AA Change: T8M
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143764 Gene: ENSMUSG00000048938 AA Change: T8M
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 |
possibly damaging
Transcript: ENSMUST00000198472
AA Change: T8M
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142345 Gene: ENSMUSG00000048938 AA Change: T8M
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
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 |
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 |
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'- AAAAGCTTGCCTCCATCTGTC -3'
(R):5'- AATCCCATGCATGTGCCTCC -3'
Sequencing Primer
(F):5'- CCAGAGAAAGGTATTAGAGTCTCC -3'
(R):5'- CATGCCTGGCTTTACACTGTAATG -3'
|
Posted On |
2018-08-29 |