Incidental Mutation 'R1302:Nrbp1'
| ID |
158414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
039368-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1302 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31398227-31408910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31407233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 354
(H354R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000202576]
[ENSMUST00000201625]
[ENSMUST00000201937]
[ENSMUST00000202505]
[ENSMUST00000202842]
|
| AlphaFold |
Q99J45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031034
AA Change: H346R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: H346R
| 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: ENSMUST00000078312
AA Change: H354R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: H354R
| 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: ENSMUST00000200722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202576
AA Change: H354R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: H354R
| 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: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000202982
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
| 5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
| Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
| Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
| Adamts4 |
G |
A |
1: 171,080,752 (GRCm39) |
G360R |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
| Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
| Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
| Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
| Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
| Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
| Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
| H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
| Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
| Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
| Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,764,320 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
| Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
| Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
| Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
| Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 71,875,504 (GRCm39) |
D119V |
probably benign |
Het |
| Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,421 (GRCm39) |
D870E |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
| Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably damaging |
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 |
|
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'- AGCCAGAGAACTTCTGTTCCACCC -3'
(R):5'- GAGCCTTGGATGGTAGTGACCAATC -3'
Sequencing Primer
(F):5'- ACACTGCTAGGAATTGGTCC -3'
(R):5'- GGATGGTAGTGACCAATCTATCCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation