Incidental Mutation 'R1322:Nrbp1'
ID |
157708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrbp1
|
Ensembl Gene |
ENSMUSG00000029148 |
Gene Name |
nuclear receptor binding protein 1 |
Synonyms |
Nrbp, B230344L17Rik |
MMRRC Submission |
039388-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1322 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31403157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 210
(I210N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000068997]
[ENSMUST00000202505]
[ENSMUST00000202576]
[ENSMUST00000201259]
[ENSMUST00000202842]
|
AlphaFold |
Q99J45 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031034
AA Change: I210N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031034 Gene: ENSMUSG00000029148 AA Change: I210N
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 damaging
Transcript: ENSMUST00000078312
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077426 Gene: ENSMUSG00000029148 AA Change: I210N
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 |
not run
Transcript: ENSMUST00000139602
AA Change: I194N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141973
AA Change: S309T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200722
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202505
AA Change: I125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144292 Gene: ENSMUSG00000029148 AA Change: I125N
Domain | Start | End | E-Value | Type |
STYKc
|
14 |
184 |
1.3e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202576
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143872 Gene: ENSMUSG00000029148 AA Change: I210N
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: ENSMUST00000202875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201259
|
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 |
0.9745 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.5%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
Col27a1 |
A |
C |
4: 63,246,803 (GRCm39) |
|
probably benign |
Het |
Fam184a |
G |
T |
10: 53,528,415 (GRCm39) |
D815E |
probably damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Gpr162 |
G |
T |
6: 124,835,864 (GRCm39) |
T512K |
probably damaging |
Het |
Hipk1 |
A |
T |
3: 103,651,297 (GRCm39) |
S1155R |
probably damaging |
Het |
Itih2 |
A |
G |
2: 10,114,333 (GRCm39) |
V417A |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,732,418 (GRCm39) |
|
probably benign |
Het |
Mecom |
G |
T |
3: 30,011,522 (GRCm39) |
P670Q |
probably damaging |
Het |
Mgat4d |
A |
G |
8: 84,092,354 (GRCm39) |
T247A |
possibly damaging |
Het |
Or7g18 |
T |
C |
9: 18,786,817 (GRCm39) |
F65L |
possibly damaging |
Het |
Polr1c |
T |
C |
17: 46,555,089 (GRCm39) |
K327R |
possibly damaging |
Het |
Prpf39 |
A |
T |
12: 65,089,436 (GRCm39) |
N58I |
possibly damaging |
Het |
Sh3bp2 |
T |
A |
5: 34,712,837 (GRCm39) |
N92K |
probably damaging |
Het |
Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
Trgc3 |
T |
C |
13: 19,445,364 (GRCm39) |
F104S |
probably benign |
Het |
Vmn2r88 |
T |
G |
14: 51,651,565 (GRCm39) |
I293S |
probably damaging |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
Zfp930 |
A |
G |
8: 69,680,820 (GRCm39) |
T171A |
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 |
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 |
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'- TCCCCAGTTTCTTTGAGTCACAT -3'
(R):5'- ACCTCAAAATTTGCTGTTCTCCC -3'
Sequencing Primer
(F):5'- CATGCTGACAAGATTAGACC -3'
(R):5'- CCCATGCCTTTTATCTTACC -3'
|
Posted On |
2014-02-18 |