Incidental Mutation 'R5749:Bicc1'
| ID |
445929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicc1
|
| Ensembl Gene |
ENSMUSG00000014329 |
| Gene Name |
BicC family RNA binding protein 1 |
| Synonyms |
Bic-C, jcpk |
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
70758662-70995530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70782799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 523
(S523P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014473]
[ENSMUST00000131445]
[ENSMUST00000143791]
|
| AlphaFold |
Q99MQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014473
AA Change: S523P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: S523P
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
47 |
129 |
2.69e0 |
SMART |
|
KH
|
133 |
206 |
6.24e-18 |
SMART |
|
KH
|
285 |
355 |
1.25e-8 |
SMART |
|
low complexity region
|
384 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
815 |
N/A |
INTRINSIC |
|
SAM
|
872 |
938 |
2.04e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131445
AA Change: S441P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: S441P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dtja_
|
1 |
46 |
1e-2 |
SMART |
|
Blast:KH
|
1 |
47 |
1e-22 |
BLAST |
|
KH
|
51 |
124 |
6.24e-18 |
SMART |
|
KH
|
203 |
273 |
1.25e-8 |
SMART |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
733 |
N/A |
INTRINSIC |
|
SAM
|
790 |
856 |
2.04e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143791
AA Change: S523P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: S523P
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
47 |
129 |
2.69e0 |
SMART |
|
KH
|
133 |
206 |
6.24e-18 |
SMART |
|
KH
|
285 |
355 |
1.25e-8 |
SMART |
|
low complexity region
|
384 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
815 |
N/A |
INTRINSIC |
|
SAM
|
872 |
938 |
4.26e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144740
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. [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 |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bicc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Bicc1
|
APN |
10 |
70,796,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01988:Bicc1
|
APN |
10 |
70,792,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Bicc1
|
APN |
10 |
70,779,190 (GRCm39) |
splice site |
probably benign |
|
|
IGL02829:Bicc1
|
APN |
10 |
70,794,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Bicc1
|
APN |
10 |
70,789,268 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03354:Bicc1
|
APN |
10 |
70,782,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
artemis
|
UTSW |
10 |
70,863,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Pebbles
|
UTSW |
10 |
70,783,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT1430001:Bicc1
|
UTSW |
10 |
70,793,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0095:Bicc1
|
UTSW |
10 |
70,796,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Bicc1
|
UTSW |
10 |
70,761,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Bicc1
|
UTSW |
10 |
70,915,045 (GRCm39) |
missense |
probably benign |
|
|
R0469:Bicc1
|
UTSW |
10 |
70,915,045 (GRCm39) |
missense |
probably benign |
|
|
R0485:Bicc1
|
UTSW |
10 |
70,761,145 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0520:Bicc1
|
UTSW |
10 |
70,793,020 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0884:Bicc1
|
UTSW |
10 |
70,794,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Bicc1
|
UTSW |
10 |
70,779,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Bicc1
|
UTSW |
10 |
70,794,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Bicc1
|
UTSW |
10 |
70,995,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Bicc1
|
UTSW |
10 |
70,785,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Bicc1
|
UTSW |
10 |
70,782,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2519:Bicc1
|
UTSW |
10 |
70,766,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Bicc1
|
UTSW |
10 |
70,779,204 (GRCm39) |
frame shift |
probably null |
|
|
R4363:Bicc1
|
UTSW |
10 |
70,779,204 (GRCm39) |
frame shift |
probably null |
|
|
R4419:Bicc1
|
UTSW |
10 |
70,782,804 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4697:Bicc1
|
UTSW |
10 |
70,789,314 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4728:Bicc1
|
UTSW |
10 |
70,771,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4765:Bicc1
|
UTSW |
10 |
70,776,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Bicc1
|
UTSW |
10 |
70,781,146 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5022:Bicc1
|
UTSW |
10 |
70,783,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5023:Bicc1
|
UTSW |
10 |
70,783,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5057:Bicc1
|
UTSW |
10 |
70,783,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5082:Bicc1
|
UTSW |
10 |
70,776,352 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5160:Bicc1
|
UTSW |
10 |
70,768,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Bicc1
|
UTSW |
10 |
70,783,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5639:Bicc1
|
UTSW |
10 |
70,776,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Bicc1
|
UTSW |
10 |
70,792,911 (GRCm39) |
nonsense |
probably null |
|
|
R6128:Bicc1
|
UTSW |
10 |
70,776,313 (GRCm39) |
splice site |
probably null |
|
|
R6277:Bicc1
|
UTSW |
10 |
70,863,731 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6389:Bicc1
|
UTSW |
10 |
70,794,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Bicc1
|
UTSW |
10 |
70,796,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Bicc1
|
UTSW |
10 |
70,766,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Bicc1
|
UTSW |
10 |
70,783,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7352:Bicc1
|
UTSW |
10 |
70,783,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7353:Bicc1
|
UTSW |
10 |
70,783,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7366:Bicc1
|
UTSW |
10 |
70,779,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7480:Bicc1
|
UTSW |
10 |
70,779,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Bicc1
|
UTSW |
10 |
70,782,434 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7544:Bicc1
|
UTSW |
10 |
70,792,204 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7555:Bicc1
|
UTSW |
10 |
70,792,121 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7663:Bicc1
|
UTSW |
10 |
70,782,420 (GRCm39) |
missense |
probably benign |
|
|
R7671:Bicc1
|
UTSW |
10 |
70,792,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7747:Bicc1
|
UTSW |
10 |
70,782,823 (GRCm39) |
missense |
probably benign |
|
|
R8129:Bicc1
|
UTSW |
10 |
70,915,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8270:Bicc1
|
UTSW |
10 |
70,767,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8525:Bicc1
|
UTSW |
10 |
70,779,365 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8762:Bicc1
|
UTSW |
10 |
70,779,216 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8849:Bicc1
|
UTSW |
10 |
70,782,694 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9120:Bicc1
|
UTSW |
10 |
70,776,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Bicc1
|
UTSW |
10 |
70,781,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Bicc1
|
UTSW |
10 |
70,785,917 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9452:Bicc1
|
UTSW |
10 |
70,792,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9497:Bicc1
|
UTSW |
10 |
70,776,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9641:Bicc1
|
UTSW |
10 |
70,863,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9672:Bicc1
|
UTSW |
10 |
70,794,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF013:Bicc1
|
UTSW |
10 |
70,771,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Bicc1
|
UTSW |
10 |
70,781,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGGTGTTACCTGCACATG -3'
(R):5'- AGCTATCTCCTAAGCCTCTCTATGG -3'
Sequencing Primer
(F):5'- CTGCACATGTCCATTTATAGACGCAG -3'
(R):5'- GTCAAATTATTCTGAACTCACAGCGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation