Incidental Mutation 'R1850:Nrip1'
| ID |
208034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
039874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76090232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 442
(I442V)
|
| 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: I442V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: I442V
| 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: I442V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: I442V
| 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
|
| Meta Mutation Damage Score |
0.2931 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
A |
14: 68,876,644 (GRCm39) |
Q202L |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,318,246 (GRCm39) |
V199F |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,981,773 (GRCm39) |
R645S |
probably damaging |
Het |
| Aoc1 |
C |
T |
6: 48,882,202 (GRCm39) |
S48F |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,646,855 (GRCm39) |
N339K |
probably damaging |
Het |
| Bpifb3 |
C |
G |
2: 153,771,264 (GRCm39) |
S392C |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,366,826 (GRCm39) |
M130V |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,753,954 (GRCm39) |
N350Y |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,457,091 (GRCm39) |
R453C |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,098,619 (GRCm39) |
N1532K |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,454,990 (GRCm39) |
L824P |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,426,058 (GRCm39) |
R1306H |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,873,670 (GRCm39) |
F1146S |
probably damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,001,448 (GRCm39) |
T3854A |
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,220,599 (GRCm39) |
I252F |
probably damaging |
Het |
| Emc1 |
A |
T |
4: 139,086,684 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,172,377 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,814,933 (GRCm39) |
N3555K |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,070,403 (GRCm39) |
T20S |
probably benign |
Het |
| Igf1 |
A |
C |
10: 87,697,236 (GRCm39) |
T2P |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,392 (GRCm39) |
M101L |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,675,730 (GRCm39) |
T1164N |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,796,293 (GRCm39) |
S2830T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,620 (GRCm39) |
A66E |
possibly damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,206 (GRCm39) |
M315L |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,807,163 (GRCm39) |
T479A |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,244,052 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,110 (GRCm39) |
N237D |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,490,683 (GRCm39) |
I462M |
probably benign |
Het |
| Or11g25 |
G |
A |
14: 50,723,055 (GRCm39) |
A47T |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,124 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Otogl |
T |
A |
10: 107,713,925 (GRCm39) |
Y498F |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,066,832 (GRCm39) |
F351I |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,710,854 (GRCm39) |
T154A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,005,025 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,072,432 (GRCm39) |
I718V |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,427,941 (GRCm39) |
Y143N |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,360,377 (GRCm39) |
I12V |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,804,411 (GRCm39) |
Q246L |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,780,746 (GRCm39) |
|
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,155,425 (GRCm39) |
S334T |
probably benign |
Het |
| Scg3 |
C |
T |
9: 75,589,449 (GRCm39) |
S35N |
possibly damaging |
Het |
| Septin5 |
A |
T |
16: 18,443,960 (GRCm39) |
L19Q |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,356,025 (GRCm39) |
F16S |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,038,551 (GRCm39) |
S365R |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,033,347 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
C |
A |
2: 165,357,133 (GRCm39) |
H264Q |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,309,889 (GRCm39) |
I526V |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,696,766 (GRCm39) |
D1203G |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,916,571 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,668,700 (GRCm39) |
W181R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,110,703 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,775,497 (GRCm39) |
A418S |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,443,576 (GRCm39) |
R48C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,487,510 (GRCm39) |
Q677R |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,669,130 (GRCm39) |
A55V |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,906,268 (GRCm39) |
N421D |
probably damaging |
Het |
| Vmn1r201 |
A |
G |
13: 22,658,801 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,826 (GRCm39) |
I118L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,675,105 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,042,865 (GRCm39) |
V1962A |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,760,815 (GRCm39) |
R107* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTATGGCCGAGCAGCAAC -3'
(R):5'- CAGGCTGCTAATAACAGTCTGC -3'
Sequencing Primer
(F):5'- CAACTGAAGAAGAGTGACTTTCTG -3'
(R):5'- AGGCTGCTAATAACAGTCTGCTTTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation