Incidental Mutation 'R7178:Baz2a'
ID |
558783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Baz2a
|
Ensembl Gene |
ENSMUSG00000040054 |
Gene Name |
bromodomain adjacent to zinc finger domain, 2A |
Synonyms |
C030005G16Rik, Walp3, Tip5 |
MMRRC Submission |
045232-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7178 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127960326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1514
(R1514W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000220049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045621
AA Change: R1511W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: R1511W
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
low complexity region
|
421 |
475 |
N/A |
INTRINSIC |
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
MBD
|
539 |
614 |
3.87e-35 |
SMART |
AT_hook
|
639 |
651 |
2.38e0 |
SMART |
AT_hook
|
660 |
672 |
1.65e0 |
SMART |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
coiled coil region
|
736 |
776 |
N/A |
INTRINSIC |
DDT
|
837 |
902 |
3.75e-18 |
SMART |
Pfam:WHIM1
|
939 |
988 |
4.8e-8 |
PFAM |
low complexity region
|
1001 |
1013 |
N/A |
INTRINSIC |
AT_hook
|
1174 |
1186 |
6.23e1 |
SMART |
AT_hook
|
1388 |
1400 |
4.21e0 |
SMART |
Pfam:WHIM3
|
1423 |
1464 |
1e-9 |
PFAM |
PHD
|
1662 |
1708 |
1.47e-11 |
SMART |
low complexity region
|
1741 |
1753 |
N/A |
INTRINSIC |
BROMO
|
1773 |
1881 |
7.71e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170054
AA Change: R1512W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: R1512W
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
low complexity region
|
422 |
476 |
N/A |
INTRINSIC |
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
MBD
|
540 |
615 |
3.87e-35 |
SMART |
AT_hook
|
640 |
652 |
2.38e0 |
SMART |
AT_hook
|
661 |
673 |
1.65e0 |
SMART |
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
coiled coil region
|
737 |
777 |
N/A |
INTRINSIC |
DDT
|
838 |
903 |
3.75e-18 |
SMART |
Pfam:WHIM1
|
940 |
989 |
4.8e-8 |
PFAM |
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
AT_hook
|
1175 |
1187 |
6.23e1 |
SMART |
AT_hook
|
1389 |
1401 |
4.21e0 |
SMART |
Pfam:WHIM3
|
1424 |
1462 |
5.5e-19 |
PFAM |
PHD
|
1663 |
1709 |
1.47e-11 |
SMART |
low complexity region
|
1742 |
1754 |
N/A |
INTRINSIC |
BROMO
|
1774 |
1882 |
7.71e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217851
AA Change: R1514W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: R1511W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.5508 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
Atad2 |
C |
T |
15: 57,980,689 (GRCm39) |
R383Q |
probably damaging |
Het |
Atp11b |
T |
A |
3: 35,874,099 (GRCm39) |
M696K |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,726,462 (GRCm39) |
T350A |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,850,979 (GRCm39) |
D29G |
possibly damaging |
Het |
Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
Qars1 |
T |
C |
9: 108,392,322 (GRCm39) |
V723A |
possibly damaging |
Het |
Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
possibly damaging |
Het |
|
Other mutations in Baz2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Baz2a
|
APN |
10 |
127,960,804 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00501:Baz2a
|
APN |
10 |
127,950,494 (GRCm39) |
missense |
probably benign |
0.14 |
IGL00743:Baz2a
|
APN |
10 |
127,950,395 (GRCm39) |
missense |
probably benign |
|
IGL01362:Baz2a
|
APN |
10 |
127,957,833 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01394:Baz2a
|
APN |
10 |
127,954,514 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01603:Baz2a
|
APN |
10 |
127,947,037 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02165:Baz2a
|
APN |
10 |
127,955,218 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02732:Baz2a
|
APN |
10 |
127,961,044 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03030:Baz2a
|
APN |
10 |
127,961,015 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03087:Baz2a
|
APN |
10 |
127,958,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R0255:Baz2a
|
UTSW |
10 |
127,950,508 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0737:Baz2a
|
UTSW |
10 |
127,951,949 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0742:Baz2a
|
UTSW |
10 |
127,949,535 (GRCm39) |
nonsense |
probably null |
|
R0755:Baz2a
|
UTSW |
10 |
127,955,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0798:Baz2a
|
UTSW |
10 |
127,962,192 (GRCm39) |
splice site |
probably benign |
|
R0879:Baz2a
|
UTSW |
10 |
127,957,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R1023:Baz2a
|
UTSW |
10 |
127,957,676 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1482:Baz2a
|
UTSW |
10 |
127,944,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1512:Baz2a
|
UTSW |
10 |
127,960,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1658:Baz2a
|
UTSW |
10 |
127,960,252 (GRCm39) |
missense |
probably benign |
0.04 |
R1983:Baz2a
|
UTSW |
10 |
127,959,828 (GRCm39) |
missense |
probably benign |
0.14 |
R2059:Baz2a
|
UTSW |
10 |
127,949,447 (GRCm39) |
missense |
probably damaging |
0.98 |
R2141:Baz2a
|
UTSW |
10 |
127,959,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2921:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R2922:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R3104:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R3105:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R3106:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R3621:Baz2a
|
UTSW |
10 |
127,960,946 (GRCm39) |
frame shift |
probably null |
|
R3872:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R3873:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Baz2a
|
UTSW |
10 |
127,959,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Baz2a
|
UTSW |
10 |
127,957,052 (GRCm39) |
missense |
probably damaging |
0.97 |
R4692:Baz2a
|
UTSW |
10 |
127,960,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Baz2a
|
UTSW |
10 |
127,960,811 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4821:Baz2a
|
UTSW |
10 |
127,946,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4832:Baz2a
|
UTSW |
10 |
127,958,999 (GRCm39) |
missense |
probably benign |
0.08 |
R4893:Baz2a
|
UTSW |
10 |
127,959,284 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4907:Baz2a
|
UTSW |
10 |
127,946,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R5133:Baz2a
|
UTSW |
10 |
127,951,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R5340:Baz2a
|
UTSW |
10 |
127,950,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Baz2a
|
UTSW |
10 |
127,960,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5761:Baz2a
|
UTSW |
10 |
127,955,559 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5891:Baz2a
|
UTSW |
10 |
127,957,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Baz2a
|
UTSW |
10 |
127,950,511 (GRCm39) |
small deletion |
probably benign |
|
R6089:Baz2a
|
UTSW |
10 |
127,950,511 (GRCm39) |
small deletion |
probably benign |
|
R6323:Baz2a
|
UTSW |
10 |
127,962,286 (GRCm39) |
missense |
probably benign |
0.21 |
R6894:Baz2a
|
UTSW |
10 |
127,959,450 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7101:Baz2a
|
UTSW |
10 |
127,957,056 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7179:Baz2a
|
UTSW |
10 |
127,960,326 (GRCm39) |
missense |
probably damaging |
0.98 |
R7202:Baz2a
|
UTSW |
10 |
127,954,428 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7223:Baz2a
|
UTSW |
10 |
127,948,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Baz2a
|
UTSW |
10 |
127,960,090 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7426:Baz2a
|
UTSW |
10 |
127,951,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Baz2a
|
UTSW |
10 |
127,957,942 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7568:Baz2a
|
UTSW |
10 |
127,961,139 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7672:Baz2a
|
UTSW |
10 |
127,959,726 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7948:Baz2a
|
UTSW |
10 |
127,961,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7993:Baz2a
|
UTSW |
10 |
127,961,491 (GRCm39) |
missense |
probably benign |
0.27 |
R8013:Baz2a
|
UTSW |
10 |
127,961,161 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8013:Baz2a
|
UTSW |
10 |
127,961,157 (GRCm39) |
missense |
probably benign |
0.09 |
R8274:Baz2a
|
UTSW |
10 |
127,957,716 (GRCm39) |
missense |
probably benign |
0.04 |
R9034:Baz2a
|
UTSW |
10 |
127,952,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R9070:Baz2a
|
UTSW |
10 |
127,958,931 (GRCm39) |
missense |
probably benign |
0.02 |
R9245:Baz2a
|
UTSW |
10 |
127,957,812 (GRCm39) |
missense |
probably benign |
|
R9329:Baz2a
|
UTSW |
10 |
127,960,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9472:Baz2a
|
UTSW |
10 |
127,948,624 (GRCm39) |
missense |
probably benign |
0.00 |
RF016:Baz2a
|
UTSW |
10 |
127,961,185 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGACCTAGAGAAGCTGCCATC -3'
(R):5'- AAGACACCAAGGCTTGTCC -3'
Sequencing Primer
(F):5'- GAGAAGCTGCCATCATTTATAGACC -3'
(R):5'- ACGTCATGGGGTTCACAATC -3'
|
Posted On |
2019-06-26 |