Incidental Mutation 'R9549:Nr1h5'
ID |
720290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nr1h5
|
Ensembl Gene |
ENSMUSG00000048938 |
Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
Synonyms |
FXRB |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R9549 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102848337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 456
(D456G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029448]
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000196988]
[ENSMUST00000197412]
[ENSMUST00000198472]
[ENSMUST00000199930]
|
AlphaFold |
E9Q5A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029448
|
SMART Domains |
Protein: ENSMUSP00000029448 Gene: ENSMUSG00000027855
Domain | Start | End | E-Value | Type |
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058899
AA Change: D456G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000052557 Gene: ENSMUSG00000048938 AA Change: D456G
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 benign
Transcript: ENSMUST00000196135
AA Change: D398G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143445 Gene: ENSMUSG00000048938 AA Change: D398G
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: D448G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142799 Gene: ENSMUSG00000048938 AA Change: D448G
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: ENSMUST00000196988
|
SMART Domains |
Protein: ENSMUSP00000143651 Gene: ENSMUSG00000027855
Domain | Start | End | E-Value | Type |
Pfam:SCP-1
|
28 |
809 |
N/A |
PFAM |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199930
|
SMART Domains |
Protein: ENSMUSP00000143493 Gene: ENSMUSG00000027855
Domain | Start | End | E-Value | Type |
Pfam:SCP-1
|
28 |
95 |
2e-33 |
PFAM |
Pfam:SCP-1
|
93 |
182 |
9.8e-53 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,742,076 (GRCm39) |
Y491C |
probably damaging |
Het |
B3gnt6 |
G |
T |
7: 97,843,656 (GRCm39) |
D101E |
possibly damaging |
Het |
Bnip5 |
A |
T |
17: 29,124,647 (GRCm39) |
H9Q |
|
Het |
Ccnt1 |
A |
G |
15: 98,441,574 (GRCm39) |
S565P |
probably damaging |
Het |
Crebbp |
T |
C |
16: 3,903,111 (GRCm39) |
M2043V |
probably benign |
Het |
Ehbp1 |
T |
G |
11: 22,012,788 (GRCm39) |
D941A |
probably benign |
Het |
Fam171b |
G |
T |
2: 83,643,199 (GRCm39) |
R36L |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,676,672 (GRCm39) |
I33L |
|
Het |
Fbxo15 |
T |
C |
18: 84,980,805 (GRCm39) |
V260A |
possibly damaging |
Het |
Fez1 |
G |
A |
9: 36,780,211 (GRCm39) |
G336E |
possibly damaging |
Het |
Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Isoc2a |
A |
G |
7: 4,895,058 (GRCm39) |
E162G |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,398,191 (GRCm39) |
S313P |
probably damaging |
Het |
Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,978 (GRCm39) |
Y592C |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,771,255 (GRCm39) |
T778A |
probably benign |
Het |
Mapk14 |
T |
A |
17: 28,934,415 (GRCm39) |
V102E |
probably damaging |
Het |
Maz |
A |
G |
7: 126,625,578 (GRCm39) |
F5S |
unknown |
Het |
Meioc |
C |
T |
11: 102,556,550 (GRCm39) |
|
probably benign |
Het |
Mlec |
A |
G |
5: 115,288,271 (GRCm39) |
V195A |
probably benign |
Het |
Mlh3 |
T |
C |
12: 85,313,249 (GRCm39) |
D979G |
probably benign |
Het |
Mto1 |
G |
A |
9: 78,368,961 (GRCm39) |
S541N |
probably benign |
Het |
Mug1 |
G |
A |
6: 121,858,762 (GRCm39) |
G1160E |
probably damaging |
Het |
Nfkb2 |
T |
A |
19: 46,298,111 (GRCm39) |
I496N |
probably damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,408 (GRCm39) |
F271L |
probably benign |
Het |
Paqr5 |
A |
T |
9: 61,863,543 (GRCm39) |
C260S |
possibly damaging |
Het |
Pip5k1b |
C |
A |
19: 24,356,413 (GRCm39) |
C175F |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,419,474 (GRCm39) |
E43G |
probably damaging |
Het |
Pld1 |
G |
A |
3: 28,125,381 (GRCm39) |
E432K |
possibly damaging |
Het |
Plekhb2 |
A |
G |
1: 34,902,552 (GRCm39) |
D64G |
probably benign |
Het |
Plekhh3 |
T |
A |
11: 101,056,015 (GRCm39) |
|
probably null |
Het |
Prex2 |
A |
T |
1: 11,256,915 (GRCm39) |
H1209L |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,005,320 (GRCm39) |
Y1330C |
probably damaging |
Het |
Rmdn2 |
T |
G |
17: 79,935,339 (GRCm39) |
S151A |
|
Het |
Sdk1 |
A |
C |
5: 141,940,657 (GRCm39) |
D475A |
possibly damaging |
Het |
Serpina1e |
A |
T |
12: 103,917,243 (GRCm39) |
L142Q |
possibly damaging |
Het |
Setbp1 |
T |
A |
18: 78,902,629 (GRCm39) |
D346V |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,795,254 (GRCm39) |
L431P |
unknown |
Het |
St13 |
G |
A |
15: 81,259,063 (GRCm39) |
A207V |
possibly damaging |
Het |
Thra |
T |
C |
11: 98,653,772 (GRCm39) |
I201T |
probably benign |
Het |
Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,853,394 (GRCm39) |
Q1805* |
probably null |
Het |
Uxs1 |
A |
T |
1: 43,810,892 (GRCm39) |
Y231* |
probably null |
Het |
Vash1 |
A |
T |
12: 86,735,870 (GRCm39) |
D252V |
probably damaging |
Het |
Vmn1r61 |
A |
C |
7: 5,614,185 (GRCm39) |
V43G |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,997,493 (GRCm39) |
H383R |
probably benign |
Het |
Vmn2r105 |
T |
C |
17: 20,448,023 (GRCm39) |
N267S |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,685,844 (GRCm39) |
E232G |
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 |
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 |
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'- GAAATTTTAAGGCAAGTCTCACCACTG -3'
(R):5'- CTAATGTGTATTAGGGTTCTGCAAG -3'
Sequencing Primer
(F):5'- GGCAAGTCTCACCACTGTAAATTTTC -3'
(R):5'- GTATTAGGGTTCTGCAAGTACTTATG -3'
|
Posted On |
2022-07-18 |