Incidental Mutation 'R8147:Bicra'
ID |
632853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bicra
|
Ensembl Gene |
ENSMUSG00000070808 |
Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
Synonyms |
Gltscr1 |
MMRRC Submission |
067575-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R8147 (G1)
|
Quality Score |
221.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 15722395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 374
(P374L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000210781]
|
AlphaFold |
F8VPZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094821
AA Change: P374L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092416 Gene: ENSMUSG00000070808 AA Change: P374L
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
internal_repeat_1
|
156 |
298 |
1.03e-6 |
PROSPERO |
low complexity region
|
308 |
323 |
N/A |
INTRINSIC |
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
internal_repeat_1
|
479 |
614 |
1.03e-6 |
PROSPERO |
low complexity region
|
619 |
638 |
N/A |
INTRINSIC |
low complexity region
|
642 |
676 |
N/A |
INTRINSIC |
low complexity region
|
719 |
732 |
N/A |
INTRINSIC |
low complexity region
|
756 |
782 |
N/A |
INTRINSIC |
low complexity region
|
790 |
819 |
N/A |
INTRINSIC |
low complexity region
|
827 |
843 |
N/A |
INTRINSIC |
low complexity region
|
852 |
906 |
N/A |
INTRINSIC |
low complexity region
|
940 |
950 |
N/A |
INTRINSIC |
low complexity region
|
987 |
1006 |
N/A |
INTRINSIC |
Pfam:GLTSCR1
|
1094 |
1202 |
4.6e-43 |
PFAM |
low complexity region
|
1232 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1275 |
1294 |
N/A |
INTRINSIC |
low complexity region
|
1349 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1460 |
1473 |
N/A |
INTRINSIC |
low complexity region
|
1535 |
1555 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210781
AA Change: P374L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.3%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,562,876 (GRCm39) |
E487G |
probably damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,184,949 (GRCm39) |
I287N |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,339,821 (GRCm39) |
N371K |
probably benign |
Het |
Atr |
T |
A |
9: 95,781,113 (GRCm39) |
F1392L |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,569,188 (GRCm39) |
R912Q |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,609 (GRCm39) |
N778S |
probably benign |
Het |
Cert1 |
C |
T |
13: 96,679,736 (GRCm39) |
P22L |
probably benign |
Het |
Dgat2 |
C |
T |
7: 98,806,187 (GRCm39) |
V337I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,395 (GRCm39) |
D937G |
probably benign |
Het |
Dqx1 |
T |
C |
6: 83,037,222 (GRCm39) |
V295A |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,673,130 (GRCm39) |
T934A |
probably benign |
Het |
Fam81b |
A |
C |
13: 76,383,140 (GRCm39) |
V243G |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,305,051 (GRCm39) |
|
probably null |
Het |
Glrx3 |
G |
A |
7: 137,064,736 (GRCm39) |
S275N |
probably benign |
Het |
Igdcc4 |
A |
T |
9: 65,031,253 (GRCm39) |
Q397L |
probably benign |
Het |
Ints6 |
C |
T |
14: 62,951,186 (GRCm39) |
G281D |
probably damaging |
Het |
Kalrn |
A |
T |
16: 33,875,414 (GRCm39) |
S1722T |
probably benign |
Het |
Lrrc4b |
A |
G |
7: 44,111,829 (GRCm39) |
D567G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,385,491 (GRCm39) |
L1200S |
probably damaging |
Het |
Mad1l1 |
G |
A |
5: 140,129,734 (GRCm39) |
R434C |
probably damaging |
Het |
Mia3 |
A |
T |
1: 183,109,062 (GRCm39) |
F358I |
|
Het |
Ncapd3 |
C |
T |
9: 26,942,014 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
A |
G |
19: 46,295,873 (GRCm39) |
R156G |
possibly damaging |
Het |
Nus1 |
T |
C |
10: 52,305,416 (GRCm39) |
|
probably null |
Het |
Or2y14 |
C |
T |
11: 49,405,050 (GRCm39) |
T195I |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,186 (GRCm39) |
I90F |
probably damaging |
Het |
Or4c31 |
T |
C |
2: 88,292,427 (GRCm39) |
F267L |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Pafah1b2 |
A |
G |
9: 45,895,147 (GRCm39) |
|
probably null |
Het |
Pold2 |
T |
C |
11: 5,826,842 (GRCm39) |
T31A |
probably benign |
Het |
Ppp1r12b |
T |
C |
1: 134,801,680 (GRCm39) |
N512S |
possibly damaging |
Het |
Prl8a8 |
A |
T |
13: 27,695,564 (GRCm39) |
L23Q |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,153,283 (GRCm39) |
V293A |
probably damaging |
Het |
Rpl18a |
G |
T |
8: 71,348,069 (GRCm39) |
T174N |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,808,128 (GRCm39) |
H375Q |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,015 (GRCm39) |
F1217L |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,993,218 (GRCm39) |
I314V |
probably benign |
Het |
Slc28a2 |
A |
G |
2: 122,288,682 (GRCm39) |
D596G |
probably benign |
Het |
Stat5b |
A |
G |
11: 100,688,607 (GRCm39) |
I285T |
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,298,467 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,770,718 (GRCm39) |
F270L |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,749 (GRCm39) |
V49A |
probably damaging |
Het |
Tbx18 |
C |
T |
9: 87,606,411 (GRCm39) |
V245I |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,714,586 (GRCm39) |
M403T |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,677,769 (GRCm39) |
F333L |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,589,213 (GRCm39) |
I46V |
probably benign |
Het |
Traf5 |
G |
T |
1: 191,746,984 (GRCm39) |
N112K |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,991,165 (GRCm39) |
M263K |
unknown |
Het |
Trim55 |
A |
G |
3: 19,727,011 (GRCm39) |
I359M |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,594,306 (GRCm39) |
W2140R |
probably benign |
Het |
Vgll3 |
T |
C |
16: 65,624,964 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn2r74 |
C |
A |
7: 85,605,227 (GRCm39) |
G474* |
probably null |
Het |
Vps18 |
G |
A |
2: 119,123,237 (GRCm39) |
A98T |
probably benign |
Het |
Zfand4 |
T |
A |
6: 116,291,169 (GRCm39) |
S387T |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,934 (GRCm39) |
Y721C |
probably damaging |
Het |
|
Other mutations in Bicra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Bicra
|
APN |
7 |
15,730,502 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01521:Bicra
|
APN |
7 |
15,723,113 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01690:Bicra
|
APN |
7 |
15,721,678 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01721:Bicra
|
APN |
7 |
15,722,624 (GRCm39) |
missense |
probably benign |
|
IGL01994:Bicra
|
APN |
7 |
15,706,741 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02084:Bicra
|
APN |
7 |
15,721,663 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02312:Bicra
|
APN |
7 |
15,727,066 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02686:Bicra
|
APN |
7 |
15,721,840 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02727:Bicra
|
APN |
7 |
15,713,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03031:Bicra
|
APN |
7 |
15,709,726 (GRCm39) |
missense |
probably benign |
0.16 |
R0003:Bicra
|
UTSW |
7 |
15,705,812 (GRCm39) |
missense |
probably benign |
|
R0025:Bicra
|
UTSW |
7 |
15,721,436 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0241:Bicra
|
UTSW |
7 |
15,709,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Bicra
|
UTSW |
7 |
15,709,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R0417:Bicra
|
UTSW |
7 |
15,706,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Bicra
|
UTSW |
7 |
15,722,687 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0547:Bicra
|
UTSW |
7 |
15,706,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0688:Bicra
|
UTSW |
7 |
15,723,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0855:Bicra
|
UTSW |
7 |
15,705,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Bicra
|
UTSW |
7 |
15,722,284 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1637:Bicra
|
UTSW |
7 |
15,706,614 (GRCm39) |
missense |
probably benign |
0.19 |
R1899:Bicra
|
UTSW |
7 |
15,721,676 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2035:Bicra
|
UTSW |
7 |
15,730,338 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2247:Bicra
|
UTSW |
7 |
15,723,159 (GRCm39) |
missense |
probably benign |
0.33 |
R2471:Bicra
|
UTSW |
7 |
15,706,257 (GRCm39) |
missense |
probably benign |
0.04 |
R2484:Bicra
|
UTSW |
7 |
15,722,605 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3437:Bicra
|
UTSW |
7 |
15,723,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3551:Bicra
|
UTSW |
7 |
15,713,658 (GRCm39) |
missense |
probably benign |
0.33 |
R4816:Bicra
|
UTSW |
7 |
15,722,831 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4901:Bicra
|
UTSW |
7 |
15,721,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5035:Bicra
|
UTSW |
7 |
15,713,349 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5078:Bicra
|
UTSW |
7 |
15,709,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R5094:Bicra
|
UTSW |
7 |
15,709,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5195:Bicra
|
UTSW |
7 |
15,713,878 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5496:Bicra
|
UTSW |
7 |
15,721,766 (GRCm39) |
missense |
probably benign |
0.33 |
R5780:Bicra
|
UTSW |
7 |
15,713,679 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6541:Bicra
|
UTSW |
7 |
15,713,054 (GRCm39) |
missense |
probably benign |
0.00 |
R6560:Bicra
|
UTSW |
7 |
15,723,119 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6575:Bicra
|
UTSW |
7 |
15,713,056 (GRCm39) |
missense |
probably benign |
0.25 |
R6854:Bicra
|
UTSW |
7 |
15,722,687 (GRCm39) |
missense |
probably benign |
0.18 |
R6967:Bicra
|
UTSW |
7 |
15,706,130 (GRCm39) |
missense |
probably damaging |
0.97 |
R7283:Bicra
|
UTSW |
7 |
15,706,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Bicra
|
UTSW |
7 |
15,706,059 (GRCm39) |
missense |
probably benign |
0.30 |
R7462:Bicra
|
UTSW |
7 |
15,713,060 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7488:Bicra
|
UTSW |
7 |
15,723,367 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7506:Bicra
|
UTSW |
7 |
15,722,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7534:Bicra
|
UTSW |
7 |
15,705,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R7915:Bicra
|
UTSW |
7 |
15,722,447 (GRCm39) |
missense |
probably benign |
|
R8063:Bicra
|
UTSW |
7 |
15,712,969 (GRCm39) |
missense |
probably benign |
|
R8699:Bicra
|
UTSW |
7 |
15,723,113 (GRCm39) |
missense |
probably benign |
0.18 |
R8784:Bicra
|
UTSW |
7 |
15,705,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Bicra
|
UTSW |
7 |
15,721,737 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8971:Bicra
|
UTSW |
7 |
15,721,481 (GRCm39) |
missense |
probably benign |
0.08 |
R9487:Bicra
|
UTSW |
7 |
15,705,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R9614:Bicra
|
UTSW |
7 |
15,705,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Bicra
|
UTSW |
7 |
15,713,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Bicra
|
UTSW |
7 |
15,705,987 (GRCm39) |
missense |
probably benign |
0.09 |
X0064:Bicra
|
UTSW |
7 |
15,709,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGTGGCTGCTTGAACAC -3'
(R):5'- AAAATCTTCCAGCCGCAGTGAC -3'
Sequencing Primer
(F):5'- GGCTGCTTGAACACATTCG -3'
(R):5'- ACACTCAACGGGAACTCGGTG -3'
|
Posted On |
2020-06-30 |