Incidental Mutation 'R6093:Nrip1'
| ID |
486064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
044250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6093 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 76091652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054178
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
| 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 benign
Transcript: ENSMUST00000121927
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
| 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 |
noncoding transcript
Transcript: ENSMUST00000231304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231585
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
| Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
| Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
| Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
| Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
| Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
| Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
| Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
| Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
| Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
| Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R7517:Nrip1
|
UTSW |
16 |
76,088,072 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
| Posted On |
2017-08-16 |
Incidental Mutation