Incidental Mutation 'R4299:Nrbp1'
| ID |
323475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
B230344L17Rik, Nrbp |
| MMRRC Submission |
041087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31240864-31251566 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 31250599 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201625]
[ENSMUST00000202576]
[ENSMUST00000202505]
[ENSMUST00000201937]
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000201333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| 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 |
|
| Meta Mutation Damage Score |
0.9487 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548H24Rik |
A |
G |
5: 31,487,526 (GRCm38) |
R208G |
possibly damaging |
Het |
| Abcc12 |
T |
C |
8: 86,531,525 (GRCm38) |
|
probably null |
Het |
| Akna |
A |
T |
4: 63,398,032 (GRCm38) |
D31E |
possibly damaging |
Het |
| Apbb2 |
A |
T |
5: 66,313,378 (GRCm38) |
H528Q |
probably damaging |
Het |
| Atp6v1g3 |
C |
A |
1: 138,283,724 (GRCm38) |
Y47* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,592,979 (GRCm38) |
T564A |
probably benign |
Het |
| BC048403 |
C |
A |
10: 121,745,446 (GRCm38) |
H117Q |
probably benign |
Het |
| C4b |
T |
C |
17: 34,731,144 (GRCm38) |
D1384G |
possibly damaging |
Het |
| C87499 |
T |
C |
4: 88,628,182 (GRCm38) |
K137E |
probably damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,523,928 (GRCm38) |
V353I |
probably damaging |
Het |
| Cdh7 |
T |
C |
1: 110,061,001 (GRCm38) |
I211T |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,739,305 (GRCm38) |
S1166P |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 121,054,258 (GRCm38) |
R599G |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,805,411 (GRCm38) |
Q149* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,183,928 (GRCm38) |
Q90R |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,573,677 (GRCm38) |
Y129C |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,819,925 (GRCm38) |
T3645A |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,285,188 (GRCm38) |
W282R |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,595,951 (GRCm38) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,068,077 (GRCm38) |
T297A |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,683,907 (GRCm38) |
D142E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,333,071 (GRCm38) |
N29K |
probably benign |
Het |
| Fxyd7 |
A |
T |
7: 31,044,982 (GRCm38) |
M36K |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,055,900 (GRCm38) |
R178* |
probably null |
Het |
| Gm14139 |
G |
A |
2: 150,190,733 (GRCm38) |
D17N |
probably damaging |
Het |
| Gnal |
C |
G |
18: 67,088,583 (GRCm38) |
P19R |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,984,214 (GRCm38) |
A144V |
possibly damaging |
Het |
| Il1rapl1 |
A |
T |
X: 87,300,707 (GRCm38) |
I194N |
probably damaging |
Het |
| Klhl24 |
T |
C |
16: 20,107,004 (GRCm38) |
M94T |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,464,914 (GRCm38) |
I133N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,399,406 (GRCm38) |
I5381T |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,169,803 (GRCm38) |
L197P |
probably damaging |
Het |
| Mapkapk3 |
G |
A |
9: 107,257,449 (GRCm38) |
T296M |
probably damaging |
Het |
| Micall2 |
T |
C |
5: 139,709,471 (GRCm38) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,769,964 (GRCm38) |
T1214A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 27,052,327 (GRCm38) |
N492S |
probably benign |
Het |
| Neurl4 |
A |
C |
11: 69,909,061 (GRCm38) |
D1055A |
probably damaging |
Het |
| Olfr1052 |
A |
T |
2: 86,298,241 (GRCm38) |
I142F |
possibly damaging |
Het |
| Olfr27 |
T |
C |
9: 39,144,999 (GRCm38) |
S300P |
probably benign |
Het |
| Olfr380 |
A |
T |
11: 73,454,001 (GRCm38) |
D70E |
probably damaging |
Het |
| Olfr421-ps1 |
T |
A |
1: 174,152,312 (GRCm38) |
Y265* |
probably null |
Het |
| Olfr53 |
T |
C |
7: 140,652,243 (GRCm38) |
V88A |
probably benign |
Het |
| Olfr67 |
T |
A |
7: 103,787,995 (GRCm38) |
H94L |
probably benign |
Het |
| Olfr901 |
T |
G |
9: 38,430,812 (GRCm38) |
Y177D |
probably damaging |
Het |
| Olfr933 |
T |
A |
9: 38,975,759 (GRCm38) |
F28I |
probably damaging |
Het |
| Patj |
C |
A |
4: 98,677,321 (GRCm38) |
N1090K |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 81,328,035 (GRCm38) |
D692G |
probably benign |
Het |
| Ppa2 |
G |
T |
3: 133,367,842 (GRCm38) |
K220N |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,597,865 (GRCm38) |
H250R |
probably damaging |
Het |
| Reln |
A |
C |
5: 21,920,487 (GRCm38) |
C2733G |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,383,753 (GRCm38) |
T497A |
probably damaging |
Het |
| Rpl13-ps3 |
T |
A |
14: 58,893,523 (GRCm38) |
|
noncoding transcript |
Het |
| Scn11a |
T |
G |
9: 119,765,506 (GRCm38) |
I1274L |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 67,055,800 (GRCm38) |
H133L |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,796,640 (GRCm38) |
|
probably null |
Het |
| Smc2 |
C |
T |
4: 52,440,238 (GRCm38) |
|
probably benign |
Het |
| Spata18 |
T |
C |
5: 73,666,902 (GRCm38) |
I156T |
probably benign |
Het |
| St3gal2 |
T |
C |
8: 110,962,359 (GRCm38) |
M177T |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,763,344 (GRCm38) |
F48L |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,049,921 (GRCm38) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,365,406 (GRCm38) |
|
probably benign |
Het |
| Telo2 |
A |
T |
17: 25,115,256 (GRCm38) |
S6T |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,252,095 (GRCm38) |
M369V |
probably benign |
Het |
| Tnfrsf13b |
C |
G |
11: 61,140,817 (GRCm38) |
|
probably null |
Het |
| Vmn1r234 |
A |
T |
17: 21,229,021 (GRCm38) |
M66L |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,091,964 (GRCm38) |
M244I |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 62,925,140 (GRCm38) |
L97* |
probably null |
Het |
| Wdr63 |
C |
T |
3: 146,068,806 (GRCm38) |
D429N |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,394,720 (GRCm38) |
*733Q |
probably null |
Het |
| Zadh2 |
A |
T |
18: 84,094,501 (GRCm38) |
I101F |
possibly damaging |
Het |
| Zfp516 |
G |
A |
18: 82,987,497 (GRCm38) |
G842D |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,155,162 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Nrbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Nrbp1
|
APN |
5 |
31,251,059 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL00926:Nrbp1
|
APN |
5 |
31,243,797 (GRCm38) |
missense |
probably benign |
0.07 |
|
Ghetto
|
UTSW |
5 |
31,245,846 (GRCm38) |
critical splice donor site |
probably null |
|
|
pudong
|
UTSW |
5 |
31,250,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Shanghai
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0358:Nrbp1
|
UTSW |
5 |
31,244,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0993:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1139:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1177:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1179:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1180:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1193:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1194:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1196:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1267:Nrbp1
|
UTSW |
5 |
31,250,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1302:Nrbp1
|
UTSW |
5 |
31,249,889 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1320:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1321:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1323:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1323:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1324:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1325:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1341:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1388:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1411:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1448:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1697:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1815:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1816:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1950:Nrbp1
|
UTSW |
5 |
31,245,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1987:Nrbp1
|
UTSW |
5 |
31,245,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2079:Nrbp1
|
UTSW |
5 |
31,251,073 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2142:Nrbp1
|
UTSW |
5 |
31,247,929 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5115:Nrbp1
|
UTSW |
5 |
31,243,715 (GRCm38) |
nonsense |
probably null |
|
|
R5168:Nrbp1
|
UTSW |
5 |
31,250,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5640:Nrbp1
|
UTSW |
5 |
31,249,585 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6765:Nrbp1
|
UTSW |
5 |
31,245,846 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7022:Nrbp1
|
UTSW |
5 |
31,244,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7044:Nrbp1
|
UTSW |
5 |
31,249,946 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7439:Nrbp1
|
UTSW |
5 |
31,244,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8161:Nrbp1
|
UTSW |
5 |
31,243,849 (GRCm38) |
nonsense |
probably null |
|
|
R8170:Nrbp1
|
UTSW |
5 |
31,245,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9561:Nrbp1
|
UTSW |
5 |
31,247,427 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9570:Nrbp1
|
UTSW |
5 |
31,243,928 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCATGGGGATAGAGAC -3'
(R):5'- GGGATATGGCTCATAGATCCTCCC -3'
Sequencing Primer
(F):5'- AACTAAGGCACTGTCCTGTATGG -3'
(R):5'- GATCCTCCCTCCTCCAAAAGAAAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation