Incidental Mutation 'R9423:Nr1h4'
| ID |
712446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1h4
|
| Ensembl Gene |
ENSMUSG00000047638 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 4 |
| Synonyms |
Rxrip14, HRR1, RIP14, Fxr, FXR |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.758)
|
| Stock # |
R9423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89290096-89369447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89309688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 347
(R347L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058126]
[ENSMUST00000105296]
[ENSMUST00000105297]
|
| AlphaFold |
Q60641 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058126
AA Change: R343L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: R343L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
135 |
206 |
1.93e-37 |
SMART |
|
Blast:HOLI
|
235 |
285 |
4e-19 |
BLAST |
|
HOLI
|
301 |
456 |
9.43e-32 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105296
AA Change: R347L
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: R347L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
135 |
206 |
1.93e-37 |
SMART |
|
Blast:HOLI
|
239 |
289 |
4e-19 |
BLAST |
|
HOLI
|
305 |
460 |
9.43e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105297
AA Change: R333L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: R333L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
121 |
192 |
1.93e-37 |
SMART |
|
Blast:HOLI
|
225 |
275 |
3e-19 |
BLAST |
|
HOLI
|
291 |
446 |
9.43e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (23/23) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,520 (GRCm39) |
S959P |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,688,819 (GRCm39) |
S486P |
|
Het |
| Adamts19 |
G |
T |
18: 59,023,427 (GRCm39) |
R274L |
possibly damaging |
Het |
| Ahcyl1 |
C |
T |
3: 107,578,476 (GRCm39) |
E254K |
probably damaging |
Het |
| Ccdc177 |
T |
G |
12: 80,804,162 (GRCm39) |
D704A |
unknown |
Het |
| Cd200r3 |
T |
C |
16: 44,771,895 (GRCm39) |
V53A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,363,329 (GRCm39) |
L429P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,148,387 (GRCm39) |
D2660G |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,155 (GRCm39) |
A1000S |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 7,999,601 (GRCm39) |
T1039A |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,939,212 (GRCm39) |
L71P |
probably damaging |
Het |
| Dab2ip |
C |
T |
2: 35,599,966 (GRCm39) |
T251M |
probably damaging |
Het |
| Dcaf8 |
T |
A |
1: 172,007,524 (GRCm39) |
I331N |
probably damaging |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,557,055 (GRCm39) |
C640Y |
probably damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,007 (GRCm39) |
L155Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,943,516 (GRCm39) |
F365L |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,705 (GRCm39) |
Y110H |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,912,318 (GRCm39) |
T362A |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,597,112 (GRCm39) |
S581N |
probably benign |
Het |
| Or4f60 |
A |
T |
2: 111,902,808 (GRCm39) |
M40K |
possibly damaging |
Het |
| Or8g26 |
G |
T |
9: 39,095,838 (GRCm39) |
M118I |
probably damaging |
Het |
| Parg |
T |
G |
14: 31,939,662 (GRCm39) |
F563V |
probably damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,487,276 (GRCm39) |
Y378C |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
A |
C |
5: 124,271,469 (GRCm39) |
L368R |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,312 (GRCm39) |
T386A |
possibly damaging |
Het |
| Plch2 |
C |
A |
4: 155,071,049 (GRCm39) |
C1110F |
|
Het |
| Poc5 |
T |
C |
13: 96,547,114 (GRCm39) |
V459A |
probably damaging |
Het |
| Pou4f3 |
T |
C |
18: 42,528,959 (GRCm39) |
S301P |
probably damaging |
Het |
| Rpf2 |
T |
C |
10: 40,101,336 (GRCm39) |
D233G |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,113,633 (GRCm39) |
Y111H |
probably benign |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,026,910 (GRCm39) |
C344Y |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,081,007 (GRCm39) |
V1524A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,158,025 (GRCm39) |
H463R |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,300 (GRCm39) |
L674Q |
probably damaging |
Het |
| Slc3a2 |
T |
A |
19: 8,690,189 (GRCm39) |
K201M |
possibly damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,123,459 (GRCm39) |
V3184L |
possibly damaging |
Het |
| Stam |
C |
A |
2: 14,146,564 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,720 (GRCm39) |
V228M |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,638,043 (GRCm39) |
Y400C |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,155,396 (GRCm39) |
V54A |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,527 (GRCm39) |
E444D |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,410 (GRCm39) |
L222Q |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,325,817 (GRCm39) |
Y421H |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,288,867 (GRCm39) |
F2500L |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,441 (GRCm39) |
S714C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,227,735 (GRCm39) |
I409T |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,397,624 (GRCm39) |
L57P |
probably damaging |
Het |
|
| Other mutations in Nr1h4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01701:Nr1h4
|
APN |
10 |
89,314,669 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02628:Nr1h4
|
APN |
10 |
89,309,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Aeronaut
|
UTSW |
10 |
89,334,091 (GRCm39) |
nonsense |
probably null |
|
|
I1329:Nr1h4
|
UTSW |
10 |
89,319,224 (GRCm39) |
splice site |
probably benign |
|
|
IGL02837:Nr1h4
|
UTSW |
10 |
89,352,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0590:Nr1h4
|
UTSW |
10 |
89,292,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0645:Nr1h4
|
UTSW |
10 |
89,342,390 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1887:Nr1h4
|
UTSW |
10 |
89,290,729 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1905:Nr1h4
|
UTSW |
10 |
89,316,421 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2471:Nr1h4
|
UTSW |
10 |
89,309,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Nr1h4
|
UTSW |
10 |
89,334,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Nr1h4
|
UTSW |
10 |
89,314,650 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3277:Nr1h4
|
UTSW |
10 |
89,314,650 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4656:Nr1h4
|
UTSW |
10 |
89,334,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4676:Nr1h4
|
UTSW |
10 |
89,309,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Nr1h4
|
UTSW |
10 |
89,314,659 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4993:Nr1h4
|
UTSW |
10 |
89,334,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5117:Nr1h4
|
UTSW |
10 |
89,314,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Nr1h4
|
UTSW |
10 |
89,319,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5176:Nr1h4
|
UTSW |
10 |
89,334,117 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5241:Nr1h4
|
UTSW |
10 |
89,319,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Nr1h4
|
UTSW |
10 |
89,352,302 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6114:Nr1h4
|
UTSW |
10 |
89,314,678 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6814:Nr1h4
|
UTSW |
10 |
89,290,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6888:Nr1h4
|
UTSW |
10 |
89,292,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Nr1h4
|
UTSW |
10 |
89,290,792 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7141:Nr1h4
|
UTSW |
10 |
89,334,091 (GRCm39) |
nonsense |
probably null |
|
|
R7427:Nr1h4
|
UTSW |
10 |
89,334,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Nr1h4
|
UTSW |
10 |
89,334,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7560:Nr1h4
|
UTSW |
10 |
89,334,123 (GRCm39) |
missense |
probably benign |
|
|
R7986:Nr1h4
|
UTSW |
10 |
89,290,634 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8881:Nr1h4
|
UTSW |
10 |
89,319,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Nr1h4
|
UTSW |
10 |
89,319,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9659:Nr1h4
|
UTSW |
10 |
89,314,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9776:Nr1h4
|
UTSW |
10 |
89,319,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Nr1h4
|
UTSW |
10 |
89,314,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9792:Nr1h4
|
UTSW |
10 |
89,314,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9795:Nr1h4
|
UTSW |
10 |
89,314,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9800:Nr1h4
|
UTSW |
10 |
89,290,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0023:Nr1h4
|
UTSW |
10 |
89,290,706 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
Z1176:Nr1h4
|
UTSW |
10 |
89,334,212 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCCGTTCTTCATGCTAGG -3'
(R):5'- TGCGAAGGCTTTACCAGTATG -3'
Sequencing Primer
(F):5'- GCTAGGTGCATGGTCATGTAATG -3'
(R):5'- CGAAGGCTTTACCAGTATGGATGATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation