Incidental Mutation 'R0358:Nrbp1'
| ID |
29933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
038564-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31402231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 64
(I64N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000068997]
[ENSMUST00000201259]
[ENSMUST00000202505]
[ENSMUST00000202576]
[ENSMUST00000202842]
|
| AlphaFold |
Q99J45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031034
AA Change: I149N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: I149N
| 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: I149N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: I149N
| 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: ENSMUST00000200722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201259
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202505
AA Change: I64N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148
AA Change: I64N
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
14 |
184 |
1.3e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202576
AA Change: I149N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: I149N
| 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 damaging
Transcript: ENSMUST00000202842
AA Change: I64N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143899
Gene: ENSMUSG00000029148
AA Change: I64N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
2 |
88 |
4.8e-5 |
PFAM |
|
Pfam:Pkinase_Tyr
|
3 |
88 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202875
|
| Meta Mutation Damage Score |
0.9530 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
| Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,142,219 (GRCm39) |
|
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
| Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
| Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
| Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
| Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
| Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
| Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
| Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
| Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
| Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
| Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
| Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
| Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
| Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
| Psmd11 |
G |
A |
11: 80,353,510 (GRCm39) |
|
probably benign |
Het |
| Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
| Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
| S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
| Slc22a16 |
T |
G |
10: 40,463,488 (GRCm39) |
|
probably null |
Het |
| Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
| Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,649,871 (GRCm39) |
T634A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
probably damaging |
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 |
|
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 |
|
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'- TCCAGGTGCATATATCGTCCATTTTGC -3'
(R):5'- TCCCAGGATCAACAGTCAGTCAGTC -3'
Sequencing Primer
(F):5'- GCGCTTCCCAGTAAAGATGG -3'
(R):5'- acacaaacacacacacacac -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation