Incidental Mutation 'R5640:Nrbp1'
ID |
440594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrbp1
|
Ensembl Gene |
ENSMUSG00000029148 |
Gene Name |
nuclear receptor binding protein 1 |
Synonyms |
Nrbp, B230344L17Rik |
MMRRC Submission |
043289-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31406929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 322
(R322W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201259]
[ENSMUST00000202576]
[ENSMUST00000201625]
[ENSMUST00000202505]
[ENSMUST00000201937]
[ENSMUST00000202842]
|
AlphaFold |
Q99J45 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031034
AA Change: R314W
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031034 Gene: ENSMUSG00000029148 AA Change: R314W
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
80 |
324 |
5.8e-26 |
PFAM |
Pfam:Pkinase
|
80 |
327 |
1e-26 |
PFAM |
low complexity region
|
412 |
436 |
N/A |
INTRINSIC |
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041565
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564
Domain | Start | End | E-Value | Type |
WD40
|
2 |
44 |
6e-3 |
SMART |
WD40
|
55 |
94 |
2.22e0 |
SMART |
WD40
|
102 |
139 |
1.23e2 |
SMART |
WD40
|
141 |
180 |
4.6e0 |
SMART |
WD40
|
186 |
223 |
3.3e1 |
SMART |
WD40
|
225 |
267 |
4.42e1 |
SMART |
WD40
|
279 |
314 |
1.03e1 |
SMART |
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054829
|
SMART Domains |
Protein: ENSMUSP00000060414 Gene: ENSMUSG00000029149
Domain | Start | End | E-Value | Type |
Pfam:BCLP
|
19 |
211 |
8.6e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200722
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201259
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202576
AA Change: R322W
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143872 Gene: ENSMUSG00000029148 AA Change: R322W
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
79 |
335 |
1e-24 |
PFAM |
Pfam:Pkinase_Tyr
|
81 |
332 |
6.5e-25 |
PFAM |
low complexity region
|
420 |
444 |
N/A |
INTRINSIC |
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201625
|
SMART Domains |
Protein: ENSMUSP00000144052 Gene: ENSMUSG00000029149
Domain | Start | End | E-Value | Type |
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202505
|
SMART Domains |
Protein: ENSMUSP00000144292 Gene: ENSMUSG00000029148
Domain | Start | End | E-Value | Type |
STYKc
|
14 |
184 |
1.3e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201937
|
SMART Domains |
Protein: ENSMUSP00000144464 Gene: ENSMUSG00000029149
Domain | Start | End | E-Value | Type |
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202842
|
SMART Domains |
Protein: ENSMUSP00000143899 Gene: ENSMUSG00000029148
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
2 |
88 |
4.8e-5 |
PFAM |
Pfam:Pkinase_Tyr
|
3 |
88 |
1.8e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E7.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,234,649 (GRCm39) |
M908I |
probably damaging |
Het |
B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,106,381 (GRCm39) |
T199A |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,289,416 (GRCm39) |
H90R |
possibly damaging |
Het |
Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,765,977 (GRCm39) |
D355E |
probably benign |
Het |
Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,864,585 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
Het |
|
Other mutations in Nrbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00913:Nrbp1
|
APN |
5 |
31,408,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL00926:Nrbp1
|
APN |
5 |
31,401,141 (GRCm39) |
missense |
probably benign |
0.07 |
Ghetto
|
UTSW |
5 |
31,403,190 (GRCm39) |
critical splice donor site |
probably null |
|
pudong
|
UTSW |
5 |
31,407,481 (GRCm39) |
missense |
probably damaging |
1.00 |
Shanghai
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Nrbp1
|
UTSW |
5 |
31,402,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0993:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1139:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1177:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1179:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1180:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1193:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1194:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1196:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1267:Nrbp1
|
UTSW |
5 |
31,407,934 (GRCm39) |
missense |
probably benign |
0.00 |
R1302:Nrbp1
|
UTSW |
5 |
31,407,233 (GRCm39) |
missense |
probably benign |
0.00 |
R1320:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1321:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1322:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1323:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1323:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1324:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1325:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1341:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1388:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1411:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1697:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1815:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1950:Nrbp1
|
UTSW |
5 |
31,403,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Nrbp1
|
UTSW |
5 |
31,402,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Nrbp1
|
UTSW |
5 |
31,408,417 (GRCm39) |
missense |
probably benign |
0.08 |
R2142:Nrbp1
|
UTSW |
5 |
31,405,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4299:Nrbp1
|
UTSW |
5 |
31,407,943 (GRCm39) |
critical splice donor site |
probably null |
|
R5115:Nrbp1
|
UTSW |
5 |
31,401,059 (GRCm39) |
nonsense |
probably null |
|
R5168:Nrbp1
|
UTSW |
5 |
31,407,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R6765:Nrbp1
|
UTSW |
5 |
31,403,190 (GRCm39) |
critical splice donor site |
probably null |
|
R7022:Nrbp1
|
UTSW |
5 |
31,401,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7044:Nrbp1
|
UTSW |
5 |
31,407,290 (GRCm39) |
missense |
probably damaging |
0.98 |
R7439:Nrbp1
|
UTSW |
5 |
31,402,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8161:Nrbp1
|
UTSW |
5 |
31,401,193 (GRCm39) |
nonsense |
probably null |
|
R8170:Nrbp1
|
UTSW |
5 |
31,403,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9561:Nrbp1
|
UTSW |
5 |
31,404,771 (GRCm39) |
critical splice donor site |
probably null |
|
R9570:Nrbp1
|
UTSW |
5 |
31,401,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCTATCAGGAAATACATCAATG -3'
(R):5'- GGGTAAAAGAATCCCTTTGGTAAC -3'
Sequencing Primer
(F):5'- TGTTTCCCCAATAAAGTTGAATTCC -3'
(R):5'- CACGCTGAATGGAAACTCCTGG -3'
|
Posted On |
2016-11-08 |