Incidental Mutation 'IGL03410:Nrip1'
| ID |
421760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76089379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 726
(N726S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054178
AA Change: N726S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: N726S
| 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
AA Change: N726S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: N726S
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,220,728 (GRCm39) |
V409E |
probably damaging |
Het |
| 1700086D15Rik |
A |
G |
11: 65,043,393 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,914,945 (GRCm39) |
N715S |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,476,238 (GRCm39) |
A1527D |
probably damaging |
Het |
| Cmtm2a |
G |
T |
8: 105,010,501 (GRCm39) |
P133T |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,900 (GRCm39) |
V483A |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,715,456 (GRCm39) |
D14V |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,083,535 (GRCm39) |
I125V |
probably benign |
Het |
| Dok3 |
G |
T |
13: 55,672,044 (GRCm39) |
Y211* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,325 (GRCm39) |
V1406A |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,183,315 (GRCm39) |
F1790S |
possibly damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,948 (GRCm39) |
M70K |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,747,777 (GRCm39) |
D10V |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,079,916 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,956,789 (GRCm39) |
E206G |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,355 (GRCm39) |
E682G |
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,362,435 (GRCm39) |
L70P |
probably damaging |
Het |
| Igkv4-59 |
G |
T |
6: 69,415,450 (GRCm39) |
A35E |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,862,421 (GRCm39) |
V80A |
probably damaging |
Het |
| Lars2 |
G |
A |
9: 123,247,841 (GRCm39) |
A333T |
possibly damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,515 (GRCm39) |
R367W |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,986 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,952,819 (GRCm39) |
I367V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,738,830 (GRCm39) |
L1677P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,209,717 (GRCm39) |
T246A |
probably benign |
Het |
| Nkiras1 |
A |
G |
14: 18,280,073 (GRCm38) |
R155G |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,219,156 (GRCm39) |
T393A |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,051 (GRCm39) |
I238F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,112,557 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4b1d |
G |
A |
2: 89,969,489 (GRCm39) |
|
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,805,764 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcnx2 |
T |
A |
8: 126,613,779 (GRCm39) |
E557D |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,472,425 (GRCm39) |
I1563V |
probably benign |
Het |
| Pramel21 |
C |
A |
4: 143,341,851 (GRCm39) |
H93Q |
probably benign |
Het |
| Prdx3 |
T |
G |
19: 60,859,848 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,669,501 (GRCm39) |
R295K |
probably null |
Het |
| Rhbdl2 |
T |
A |
4: 123,723,463 (GRCm39) |
L289* |
probably null |
Het |
| Rnps1 |
A |
G |
17: 24,640,835 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,823 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,603,033 (GRCm39) |
Y4518N |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,772,436 (GRCm39) |
N296S |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,964 (GRCm39) |
T1308M |
probably damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,691,662 (GRCm39) |
D3G |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,662,740 (GRCm39) |
E165G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,686,776 (GRCm39) |
I48F |
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,709,476 (GRCm39) |
C354Y |
probably damaging |
Het |
| Terb1 |
C |
A |
8: 105,199,674 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
G |
A |
16: 32,443,649 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
C |
4: 52,611,134 (GRCm39) |
R342S |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,978 (GRCm39) |
W141R |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,910,486 (GRCm39) |
V3417L |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation