Incidental Mutation 'R6765:Nrbp1'
| ID |
531852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
044881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 31403190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000068997]
[ENSMUST00000201259]
[ENSMUST00000202505]
[ENSMUST00000202576]
[ENSMUST00000202842]
|
| AlphaFold |
Q99J45 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031034
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
| 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: ENSMUST00000068997
|
| SMART Domains |
Protein: ENSMUSP00000070496
Gene: ENSMUSG00000055424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201259
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202505
|
| SMART Domains |
Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
14 |
184 |
1.3e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202576
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
C |
A |
7: 82,216,232 (GRCm39) |
D878E |
possibly damaging |
Het |
| Adipor2 |
A |
C |
6: 119,334,203 (GRCm39) |
F336V |
possibly damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,882,871 (GRCm39) |
N249S |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,427 (GRCm39) |
L261Q |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,599,017 (GRCm39) |
D530E |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,361,900 (GRCm39) |
M788K |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,756 (GRCm39) |
I762F |
probably damaging |
Het |
| Bhlhe23 |
C |
A |
2: 180,418,136 (GRCm39) |
R134L |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,777,934 (GRCm39) |
D687G |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,405,940 (GRCm39) |
M95I |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,115,355 (GRCm39) |
I832N |
unknown |
Het |
| Clcn2 |
A |
C |
16: 20,526,418 (GRCm39) |
|
probably null |
Het |
| Csrnp2 |
C |
T |
15: 100,380,574 (GRCm39) |
R239Q |
probably damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,927,965 (GRCm39) |
D270E |
probably benign |
Het |
| Dlgap2 |
G |
A |
8: 14,793,284 (GRCm39) |
G426D |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,440 (GRCm39) |
Y799H |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,460,066 (GRCm39) |
V112I |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,367,177 (GRCm39) |
D240G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,816,776 (GRCm39) |
I4170V |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,806,531 (GRCm39) |
V220A |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,860 (GRCm39) |
Y128C |
probably damaging |
Het |
| Gsto2 |
A |
T |
19: 47,860,227 (GRCm39) |
R7* |
probably null |
Het |
| Itih3 |
C |
T |
14: 30,631,430 (GRCm39) |
G822D |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,403,673 (GRCm39) |
D728V |
probably damaging |
Het |
| Khdc4 |
G |
T |
3: 88,593,736 (GRCm39) |
G42W |
probably damaging |
Het |
| Lnpep |
G |
A |
17: 17,750,758 (GRCm39) |
T976I |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,562,449 (GRCm39) |
H2420Q |
unknown |
Het |
| Mc1r |
A |
G |
8: 124,134,435 (GRCm39) |
K63E |
probably damaging |
Het |
| Mpped1 |
G |
A |
15: 83,720,584 (GRCm39) |
V15M |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,272 (GRCm39) |
T103A |
probably benign |
Het |
| Nhsl1 |
A |
T |
10: 18,407,062 (GRCm39) |
T1399S |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,216,996 (GRCm39) |
T995M |
probably benign |
Het |
| Or10g9 |
A |
C |
9: 39,912,493 (GRCm39) |
F10C |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or8k27 |
T |
C |
2: 86,275,580 (GRCm39) |
T249A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,663 (GRCm39) |
L347P |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,563 (GRCm39) |
T4047A |
probably benign |
Het |
| Prrt2 |
T |
A |
7: 126,618,769 (GRCm39) |
D232V |
probably damaging |
Het |
| Psmd5 |
A |
C |
2: 34,746,545 (GRCm39) |
M344R |
probably benign |
Het |
| Pwp1 |
G |
A |
10: 85,720,397 (GRCm39) |
E345K |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,666,851 (GRCm39) |
Y213H |
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,309,203 (GRCm39) |
N92D |
possibly damaging |
Het |
| Sclt1 |
T |
C |
3: 41,685,337 (GRCm39) |
R39G |
unknown |
Het |
| Syne1 |
A |
T |
10: 5,093,285 (GRCm39) |
|
probably null |
Het |
| Tmem163 |
G |
T |
1: 127,479,078 (GRCm39) |
A147E |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,557 (GRCm39) |
M109L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,039,790 (GRCm39) |
E1283G |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
| Upb1 |
A |
T |
10: 75,273,978 (GRCm39) |
D335V |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,924,104 (GRCm39) |
E213G |
probably damaging |
Het |
| Vwc2 |
C |
T |
11: 11,104,215 (GRCm39) |
T249I |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,391,409 (GRCm39) |
C4692R |
unknown |
Het |
| Zfp106 |
T |
C |
2: 120,369,935 (GRCm39) |
E29G |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,767 (GRCm39) |
A214V |
possibly damaging |
Het |
| Zfp981 |
T |
A |
4: 146,622,363 (GRCm39) |
H429Q |
probably benign |
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 |
|
R5640:Nrbp1
|
UTSW |
5 |
31,406,929 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- AGAGCTGGCCCTTACTCTTC -3'
(R):5'- CGAAGGACTAGAGTCAGACCTC -3'
Sequencing Primer
(F):5'- AGAGCTGGCCCTTACTCTTCTTAAC -3'
(R):5'- GAAGGACTAGAGTCAGACCTCATATC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation