Incidental Mutation 'R7517:Nrip1'
ID |
582537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrip1
|
Ensembl Gene |
ENSMUSG00000048490 |
Gene Name |
nuclear receptor interacting protein 1 |
Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
MMRRC Submission |
045590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7517 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to T
at 76088072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Lysine
at position 1162
(*1162K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051726
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
AlphaFold |
Q8CBD1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000054178
AA Change: *1162K
|
SMART Domains |
Protein: ENSMUSP00000051726 Gene: ENSMUSG00000048490 AA Change: *1162K
Domain | Start | End | E-Value | Type |
low complexity region
|
182 |
195 |
N/A |
INTRINSIC |
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
PDB:2GPP|D
|
368 |
392 |
2e-7 |
PDB |
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
low complexity region
|
719 |
731 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121927
AA Change: *1162K
|
SMART Domains |
Protein: ENSMUSP00000112959 Gene: ENSMUSG00000048490 AA Change: *1162K
Domain | Start | End | E-Value | Type |
Pfam:NRIP1_repr_1
|
27 |
331 |
5.4e-141 |
PFAM |
PDB:2GPP|D
|
368 |
392 |
2e-7 |
PDB |
Pfam:NRIP1_repr_2
|
412 |
739 |
7.5e-122 |
PFAM |
Pfam:NRIP1_repr_3
|
754 |
841 |
8.4e-45 |
PFAM |
Pfam:NRIP1_repr_4
|
849 |
1161 |
1.7e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231585
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygosity for targeted disruption of this gene results in female infertility due to ovulation failure. Heterozygous females are partially affected. Male and female mice are smaller than wild-type littermates. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
Het |
|
Other mutations in Nrip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00496:Nrip1
|
APN |
16 |
76,090,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL00732:Nrip1
|
APN |
16 |
76,089,949 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02024:Nrip1
|
APN |
16 |
76,088,563 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02172:Nrip1
|
APN |
16 |
76,088,380 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02432:Nrip1
|
APN |
16 |
76,088,668 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03025:Nrip1
|
APN |
16 |
76,091,353 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03410:Nrip1
|
APN |
16 |
76,089,379 (GRCm39) |
missense |
probably benign |
|
PIT4802001:Nrip1
|
UTSW |
16 |
76,090,157 (GRCm39) |
missense |
probably damaging |
0.97 |
R0064:Nrip1
|
UTSW |
16 |
76,091,558 (GRCm39) |
utr 5 prime |
probably benign |
|
R0304:Nrip1
|
UTSW |
16 |
76,089,595 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0320:Nrip1
|
UTSW |
16 |
76,089,251 (GRCm39) |
missense |
probably benign |
0.00 |
R0368:Nrip1
|
UTSW |
16 |
76,090,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R1730:Nrip1
|
UTSW |
16 |
76,089,778 (GRCm39) |
missense |
probably benign |
0.42 |
R1783:Nrip1
|
UTSW |
16 |
76,089,778 (GRCm39) |
missense |
probably benign |
0.42 |
R1850:Nrip1
|
UTSW |
16 |
76,090,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Nrip1
|
UTSW |
16 |
76,088,927 (GRCm39) |
missense |
probably benign |
|
R2252:Nrip1
|
UTSW |
16 |
76,088,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Nrip1
|
UTSW |
16 |
76,091,323 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4290:Nrip1
|
UTSW |
16 |
76,088,876 (GRCm39) |
missense |
probably benign |
0.00 |
R4426:Nrip1
|
UTSW |
16 |
76,088,293 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4598:Nrip1
|
UTSW |
16 |
76,089,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4607:Nrip1
|
UTSW |
16 |
76,089,920 (GRCm39) |
missense |
probably benign |
0.00 |
R4608:Nrip1
|
UTSW |
16 |
76,089,920 (GRCm39) |
missense |
probably benign |
0.00 |
R5893:Nrip1
|
UTSW |
16 |
76,090,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R5939:Nrip1
|
UTSW |
16 |
76,089,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R5966:Nrip1
|
UTSW |
16 |
76,090,471 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6093:Nrip1
|
UTSW |
16 |
76,091,652 (GRCm39) |
start gained |
probably benign |
|
R6154:Nrip1
|
UTSW |
16 |
76,090,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R6639:Nrip1
|
UTSW |
16 |
76,090,883 (GRCm39) |
nonsense |
probably null |
|
R6910:Nrip1
|
UTSW |
16 |
76,091,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:Nrip1
|
UTSW |
16 |
76,089,476 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7314:Nrip1
|
UTSW |
16 |
76,088,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7346:Nrip1
|
UTSW |
16 |
76,090,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7386:Nrip1
|
UTSW |
16 |
76,090,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Nrip1
|
UTSW |
16 |
76,088,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R7506:Nrip1
|
UTSW |
16 |
76,091,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7657:Nrip1
|
UTSW |
16 |
76,091,587 (GRCm39) |
splice site |
probably null |
|
R7878:Nrip1
|
UTSW |
16 |
76,091,554 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8068:Nrip1
|
UTSW |
16 |
76,089,841 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8254:Nrip1
|
UTSW |
16 |
76,088,287 (GRCm39) |
missense |
probably benign |
0.02 |
R8261:Nrip1
|
UTSW |
16 |
76,088,949 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8294:Nrip1
|
UTSW |
16 |
76,089,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Nrip1
|
UTSW |
16 |
76,089,553 (GRCm39) |
missense |
probably damaging |
0.98 |
R8739:Nrip1
|
UTSW |
16 |
76,088,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8956:Nrip1
|
UTSW |
16 |
76,089,193 (GRCm39) |
missense |
probably benign |
0.07 |
R8988:Nrip1
|
UTSW |
16 |
76,088,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9024:Nrip1
|
UTSW |
16 |
76,088,388 (GRCm39) |
nonsense |
probably null |
|
R9206:Nrip1
|
UTSW |
16 |
76,089,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9208:Nrip1
|
UTSW |
16 |
76,089,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9393:Nrip1
|
UTSW |
16 |
76,091,353 (GRCm39) |
missense |
probably benign |
0.06 |
R9476:Nrip1
|
UTSW |
16 |
76,089,820 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Nrip1
|
UTSW |
16 |
76,090,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCAACCTCGAGTTCAATTGTTTC -3'
(R):5'- CGAGAGTCTCTCACAGGTTAC -3'
Sequencing Primer
(F):5'- GAGTTCAATTGTTTCCTCATGACATC -3'
(R):5'- GAGTCTCTCACAGGTTACAGTCAAAG -3'
|
Posted On |
2019-10-17 |