Incidental Mutation 'R7223:Baz2a'
ID |
561955 |
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 |
045295-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 127948475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 252
(G252V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000219072]
[ENSMUST00000220049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045621
AA Change: G252V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: G252V
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: G252V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: G252V
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: G254V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219072
AA Change: G252V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: G252V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,104,487 (GRCm39) |
V733E |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,105,041 (GRCm39) |
N201K |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,592 (GRCm39) |
S322R |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,475,058 (GRCm39) |
L914Q |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,235,139 (GRCm39) |
F535S |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,733,695 (GRCm39) |
F359S |
possibly damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,170 (GRCm39) |
L190Q |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,474,972 (GRCm39) |
V59A |
probably damaging |
Het |
Ccr8 |
T |
A |
9: 119,923,683 (GRCm39) |
I266N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,596 (GRCm39) |
E1798V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,153,684 (GRCm39) |
N1713S |
probably benign |
Het |
Cep19 |
T |
A |
16: 31,922,833 (GRCm39) |
I33N |
probably damaging |
Het |
Cers3 |
A |
T |
7: 66,433,163 (GRCm39) |
Y196F |
probably damaging |
Het |
Cidea |
T |
C |
18: 67,499,491 (GRCm39) |
I126T |
probably damaging |
Het |
Copg2 |
A |
T |
6: 30,789,689 (GRCm39) |
Y546* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,264,717 (GRCm39) |
V261E |
probably benign |
Het |
Cyp2g1 |
A |
T |
7: 26,514,057 (GRCm39) |
D221V |
probably damaging |
Het |
Cyp8b1 |
G |
A |
9: 121,744,163 (GRCm39) |
H390Y |
probably damaging |
Het |
Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
Dnajc24 |
G |
A |
2: 105,832,311 (GRCm39) |
S24L |
possibly damaging |
Het |
Dpysl3 |
T |
C |
18: 43,571,107 (GRCm39) |
S56G |
probably benign |
Het |
Esp1 |
A |
G |
17: 41,041,972 (GRCm39) |
D88G |
probably benign |
Het |
Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,177,718 (GRCm39) |
E536G |
possibly damaging |
Het |
Fbxo3 |
T |
C |
2: 103,873,357 (GRCm39) |
V156A |
possibly damaging |
Het |
Gls2 |
C |
A |
10: 128,035,063 (GRCm39) |
H65Q |
probably benign |
Het |
Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
Gpcpd1 |
T |
A |
2: 132,375,976 (GRCm39) |
K435I |
probably benign |
Het |
Gpx6 |
T |
A |
13: 21,501,840 (GRCm39) |
|
probably null |
Het |
Hps3 |
A |
T |
3: 20,084,583 (GRCm39) |
S202T |
probably benign |
Het |
Htr1d |
T |
A |
4: 136,170,812 (GRCm39) |
L347H |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,208 (GRCm39) |
L433P |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,530 (GRCm39) |
H537Y |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,765,480 (GRCm39) |
M1530K |
probably damaging |
Het |
Jarid2 |
A |
G |
13: 45,049,798 (GRCm39) |
T247A |
possibly damaging |
Het |
L3hypdh |
C |
T |
12: 72,120,783 (GRCm39) |
V323I |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,715,665 (GRCm39) |
T1707I |
possibly damaging |
Het |
Map6 |
G |
T |
7: 98,917,232 (GRCm39) |
A2S |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,421,066 (GRCm39) |
I349K |
probably benign |
Het |
Mybl2 |
A |
G |
2: 162,914,625 (GRCm39) |
T248A |
probably benign |
Het |
N6amt1 |
A |
G |
16: 87,159,548 (GRCm39) |
*151W |
probably null |
Het |
Nhlrc1 |
A |
G |
13: 47,167,684 (GRCm39) |
V191A |
probably benign |
Het |
Nkx2-5 |
T |
C |
17: 27,058,594 (GRCm39) |
E120G |
possibly damaging |
Het |
Or2y10 |
T |
A |
11: 49,454,925 (GRCm39) |
M59K |
probably damaging |
Het |
Or52r1b |
C |
A |
7: 102,690,839 (GRCm39) |
T46N |
possibly damaging |
Het |
Or8b41 |
T |
C |
9: 38,055,049 (GRCm39) |
V201A |
probably benign |
Het |
Or8k28 |
T |
A |
2: 86,286,211 (GRCm39) |
I135F |
possibly damaging |
Het |
Pcdha8 |
T |
G |
18: 37,126,201 (GRCm39) |
L228V |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,532,253 (GRCm39) |
T134A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,324,078 (GRCm39) |
R484Q |
probably benign |
Het |
Pipox |
A |
G |
11: 77,772,012 (GRCm39) |
S371P |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,823,343 (GRCm39) |
S159P |
|
Het |
Psme4 |
C |
T |
11: 30,824,226 (GRCm39) |
P1737S |
probably benign |
Het |
Pygm |
G |
A |
19: 6,438,893 (GRCm39) |
D328N |
probably benign |
Het |
Rabgef1 |
A |
T |
5: 130,219,801 (GRCm39) |
E88V |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,300,428 (GRCm39) |
R245L |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,908,226 (GRCm39) |
I172V |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,099,009 (GRCm39) |
Y586N |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,761,610 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,178,480 (GRCm39) |
V881I |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,601,726 (GRCm39) |
V1512E |
unknown |
Het |
Sufu |
T |
C |
19: 46,441,716 (GRCm39) |
I292T |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,649,450 (GRCm39) |
N87D |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,733 (GRCm39) |
T239A |
not run |
Het |
Tmem121 |
A |
T |
12: 113,152,114 (GRCm39) |
K111* |
probably null |
Het |
Tpp2 |
T |
A |
1: 44,008,048 (GRCm39) |
D417E |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,315,007 (GRCm39) |
E2025K |
possibly damaging |
Het |
Trappc3 |
C |
T |
4: 126,168,945 (GRCm39) |
A145V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,721,325 (GRCm39) |
D6754G |
probably null |
Het |
Unc13c |
T |
A |
9: 73,536,473 (GRCm39) |
M1627L |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,542,414 (GRCm39) |
I3327V |
probably benign |
Het |
Vmn1r74 |
C |
T |
7: 11,580,894 (GRCm39) |
Q65* |
probably null |
Het |
Wdr18 |
G |
A |
10: 79,796,202 (GRCm39) |
R69H |
probably damaging |
Het |
Zbed5 |
G |
T |
5: 129,929,279 (GRCm39) |
D132Y |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,785,448 (GRCm39) |
Y366* |
probably null |
Het |
Zfyve26 |
T |
C |
12: 79,292,945 (GRCm39) |
N2068S |
probably damaging |
Het |
Zic2 |
T |
C |
14: 122,713,503 (GRCm39) |
F139S |
probably damaging |
Het |
Zmynd11 |
T |
C |
13: 9,760,198 (GRCm39) |
Q141R |
probably benign |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,388 (GRCm39) |
E54G |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,828,456 (GRCm39) |
D333N |
probably benign |
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 |
R7178:Baz2a
|
UTSW |
10 |
127,960,326 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- ATTTGAGCACCAGTGTGGCTG -3'
(R):5'- AAGTAACAGGTTGGCTCAGGC -3'
Sequencing Primer
(F):5'- GCTGGAGGAGGGCCATTTAG -3'
(R):5'- CTCAGGCCAGCACAAAAGGG -3'
|
Posted On |
2019-06-26 |