Incidental Mutation 'R1196:Nrbp1'
ID |
101105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrbp1
|
Ensembl Gene |
ENSMUSG00000029148 |
Gene Name |
nuclear receptor binding protein 1 |
Synonyms |
Nrbp, B230344L17Rik |
MMRRC Submission |
039268-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1196 (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: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 86.8%
|
Validation Efficiency |
97% (38/39) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,383,153 (GRCm39) |
I2112T |
probably benign |
Het |
Agtpbp1 |
C |
A |
13: 59,598,132 (GRCm39) |
|
probably benign |
Het |
Ash1l |
T |
C |
3: 88,890,623 (GRCm39) |
M834T |
probably damaging |
Het |
Aspg |
A |
G |
12: 112,082,958 (GRCm39) |
T213A |
possibly damaging |
Het |
Chpf2 |
T |
C |
5: 24,794,646 (GRCm39) |
V272A |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddah2 |
G |
T |
17: 35,280,503 (GRCm39) |
D215Y |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Fbrsl1 |
T |
A |
5: 110,522,385 (GRCm39) |
M150L |
probably benign |
Het |
Hmces |
T |
A |
6: 87,913,164 (GRCm39) |
D306E |
probably benign |
Het |
Itga2 |
C |
T |
13: 115,002,691 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,075,015 (GRCm39) |
|
probably benign |
Het |
Krr1 |
T |
A |
10: 111,811,562 (GRCm39) |
H85Q |
probably benign |
Het |
Krt87 |
C |
T |
15: 101,389,314 (GRCm39) |
R6Q |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,408,530 (GRCm39) |
M199V |
probably benign |
Het |
Krtap5-2 |
A |
T |
7: 141,728,620 (GRCm39) |
C353* |
probably null |
Het |
Myo7a |
T |
G |
7: 97,746,880 (GRCm39) |
I178L |
possibly damaging |
Het |
Myof |
G |
A |
19: 37,899,408 (GRCm39) |
T1043I |
probably damaging |
Het |
Noc4l |
C |
T |
5: 110,798,450 (GRCm39) |
E247K |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,787,837 (GRCm39) |
C437R |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,890 (GRCm39) |
N37K |
probably damaging |
Het |
Or7e168 |
A |
G |
9: 19,719,928 (GRCm39) |
I105V |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,062,630 (GRCm39) |
F584L |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,312,875 (GRCm39) |
F1198L |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Tent5c |
T |
C |
3: 100,380,316 (GRCm39) |
T147A |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Unc13a |
A |
G |
8: 72,107,630 (GRCm39) |
I554T |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,247,866 (GRCm39) |
D1023G |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,583 (GRCm39) |
K94* |
probably null |
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 |
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'- GGAGAGCTGGCCCTTACTCTTCTTAAC -3'
(R):5'- TTTGGCCCGAAGGACTAGAGTCAGAC -3'
Sequencing Primer
(F):5'- ACCCTTGGGTTCCCCCTG -3'
(R):5'- GAAGGACTAGAGTCAGACCTCATATC -3'
|
Posted On |
2014-01-15 |