Incidental Mutation 'R1697:Nrbp1'
| ID |
192315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1697 (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 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 |
noncoding transcript
Transcript: ENSMUST00000200857
|
| 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: 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,928 (GRCm39) |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 124,968,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl3 |
T |
C |
1: 78,683,114 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,220,792 (GRCm39) |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,974,000 (GRCm39) |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,223,248 (GRCm39) |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,716,404 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,599,436 (GRCm39) |
T1890A |
possibly damaging |
Het |
| Capn7 |
C |
T |
14: 31,082,117 (GRCm39) |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,441,367 (GRCm39) |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,757,376 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,530 (GRCm39) |
V422A |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,337,124 (GRCm39) |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,171,464 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,856,176 (GRCm39) |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,392,473 (GRCm39) |
V85E |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,772 (GRCm39) |
C1579S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,704,456 (GRCm39) |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,225 (GRCm39) |
L1772P |
probably damaging |
Het |
| Gtf3a |
C |
A |
5: 146,888,723 (GRCm39) |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,342,957 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 55,803,653 (GRCm39) |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,996,080 (GRCm39) |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,786,752 (GRCm39) |
Y7* |
probably null |
Het |
| Irag2 |
A |
G |
6: 145,083,341 (GRCm39) |
|
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,619,750 (GRCm39) |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,619,020 (GRCm39) |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,581,530 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,593,379 (GRCm39) |
V264A |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,712,695 (GRCm39) |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,984,369 (GRCm39) |
T169I |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,540 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,154,613 (GRCm39) |
V461I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,462,054 (GRCm39) |
S317R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,361,872 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or1j17 |
C |
T |
2: 36,578,259 (GRCm39) |
L82F |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,502 (GRCm39) |
S293R |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,270 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,929 (GRCm39) |
I15N |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,737 (GRCm39) |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,577,087 (GRCm39) |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,541 (GRCm39) |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,267,710 (GRCm39) |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,512,057 (GRCm39) |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,527,906 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
C |
4: 143,935,162 (GRCm39) |
I193S |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,446 (GRCm39) |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,715,514 (GRCm39) |
D664E |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,887,391 (GRCm39) |
A99T |
probably benign |
Het |
| Stim1 |
T |
G |
7: 102,003,713 (GRCm39) |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,701,740 (GRCm39) |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,372,464 (GRCm39) |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,867 (GRCm39) |
C143S |
probably benign |
Het |
| Tnr |
T |
G |
1: 159,679,600 (GRCm39) |
N191K |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,217,198 (GRCm39) |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,041 (GRCm39) |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,602,995 (GRCm39) |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,830,887 (GRCm39) |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,779 (GRCm39) |
D37G |
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 |
|
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'- GGAGAGCTGGCCCTTACTCTTCTTAAC -3'
(R):5'- TTTGGCCCGAAGGACTAGAGTCAGAC -3'
Sequencing Primer
(F):5'- ACCCTTGGGTTCCCCCTG -3'
(R):5'- GAAGGACTAGAGTCAGACCTCATATC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation