Incidental Mutation 'R4598:Nrip1'
| ID |
345383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
041814-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76089968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 530
(F530L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054178
AA Change: F530L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: F530L
| 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 damaging
Transcript: ENSMUST00000121927
AA Change: F530L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: F530L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,188 (GRCm39) |
|
probably null |
Het |
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Abcb7 |
A |
C |
X: 103,366,988 (GRCm39) |
D135E |
probably benign |
Het |
| Ace |
T |
A |
11: 105,872,585 (GRCm39) |
|
probably null |
Het |
| Acnat1 |
T |
C |
4: 49,450,781 (GRCm39) |
D110G |
probably benign |
Het |
| Ak9 |
C |
T |
10: 41,259,907 (GRCm39) |
P862S |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,678,766 (GRCm39) |
S972P |
probably damaging |
Het |
| Bmf |
C |
A |
2: 118,379,609 (GRCm39) |
A56S |
probably benign |
Het |
| C6 |
T |
C |
15: 4,792,852 (GRCm39) |
L319P |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,088 (GRCm39) |
T69A |
probably benign |
Het |
| Cep162 |
A |
G |
9: 87,085,848 (GRCm39) |
Y1159H |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,511,444 (GRCm39) |
N41K |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,227 (GRCm39) |
I473V |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Eif4e3 |
T |
A |
6: 99,617,671 (GRCm39) |
I67L |
probably benign |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Esp31 |
T |
A |
17: 38,952,012 (GRCm39) |
|
probably null |
Het |
| Esrp2 |
A |
G |
8: 106,859,343 (GRCm39) |
M498T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,032,366 (GRCm39) |
I1771T |
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,562,438 (GRCm39) |
H1259Q |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,977,826 (GRCm39) |
Y791C |
probably benign |
Het |
| Kazn |
A |
G |
4: 141,937,403 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,169,392 (GRCm39) |
T1955A |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,322,675 (GRCm39) |
|
probably null |
Het |
| Megf10 |
A |
T |
18: 57,420,884 (GRCm39) |
S841C |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,802,469 (GRCm39) |
|
probably null |
Het |
| Mrap2 |
A |
T |
9: 87,064,842 (GRCm39) |
E194D |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
C |
7: 104,685,280 (GRCm39) |
I292L |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,864 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,381 (GRCm39) |
H64Q |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,466,713 (GRCm39) |
G16R |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,201,829 (GRCm39) |
K464N |
probably benign |
Het |
| Pja2 |
A |
T |
17: 64,620,025 (GRCm39) |
M1K |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,573,280 (GRCm39) |
N1875K |
probably damaging |
Het |
| Pogz |
T |
C |
3: 94,787,491 (GRCm39) |
S1360P |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,256,512 (GRCm39) |
L385Q |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,402,492 (GRCm39) |
I132T |
probably benign |
Het |
| Rpgr |
A |
G |
X: 10,062,255 (GRCm39) |
S343P |
probably benign |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Scyl1 |
A |
G |
19: 5,820,481 (GRCm39) |
S118P |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,131 (GRCm39) |
N414D |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,860,834 (GRCm39) |
D65G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,464 (GRCm39) |
Y144C |
probably damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,733,579 (GRCm39) |
Y103C |
probably damaging |
Het |
| Stat3 |
C |
T |
11: 100,794,500 (GRCm39) |
D270N |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,736 (GRCm39) |
S153G |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,562,885 (GRCm39) |
E697G |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,966,801 (GRCm39) |
T470I |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,479 (GRCm39) |
T441A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,029 (GRCm39) |
L182* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,394,679 (GRCm39) |
I1345T |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,815 (GRCm39) |
R493L |
probably benign |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTTTCGTGAGGTCCATCAGG -3'
(R):5'- TGTTAAACACGTGGGATCCC -3'
Sequencing Primer
(F):5'- CTTGGAAGCGGGAGTACTG -3'
(R):5'- CAAGATCCCCGGCGTTGAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation