Incidental Mutation 'IGL00913:Nrbp1'
| ID |
27405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31408403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 513
(E513G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000202576]
[ENSMUST00000201937]
[ENSMUST00000202505]
[ENSMUST00000201625]
|
| AlphaFold |
Q99J45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031034
AA Change: E513G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: E513G
| 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 |
possibly damaging
Transcript: ENSMUST00000078312
AA Change: E521G
PolyPhen 2
Score 0.680 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: E521G
| 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: ENSMUST00000200857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202576
AA Change: E521G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: E521G
| 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: ENSMUST00000201697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| 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 |
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: ENSMUST00000201625
|
| SMART Domains |
Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
| Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
| Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
| F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,269,933 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
A |
G |
10: 36,708,846 (GRCm39) |
D127G |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
| Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
| Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
| Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
| Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
| Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,339,280 (GRCm39) |
T380M |
probably damaging |
Het |
| Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,158,201 (GRCm39) |
L82Q |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,373 (GRCm39) |
Y108* |
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
| Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
| Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
probably damaging |
Het |
|
| Other mutations in Nrbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation