Incidental Mutation 'R7044:Nrbp1'
| ID |
547203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31407290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 373
(V373A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201625]
[ENSMUST00000201937]
[ENSMUST00000202505]
[ENSMUST00000202576]
[ENSMUST00000202842]
|
| AlphaFold |
Q99J45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031034
AA Change: V365A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: V365A
| 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 |
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 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 damaging
Transcript: ENSMUST00000202576
AA Change: V373A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: V373A
| 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 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 |
0.1239 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm39) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
| Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
| Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,628 (GRCm39) |
D358G |
probably damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,541,091 (GRCm39) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,466,930 (GRCm39) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,593,216 (GRCm39) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
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 |
|
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 |
|
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'- GGAGTTTCCATTCAGCGTGG -3'
(R):5'- ATCTCACCTGACATCTTCAAGG -3'
Sequencing Primer
(F):5'- CGTGGGGCATCACTGGC -3'
(R):5'- CTCACCTGACATCTTCAAGGAATTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation