Incidental Mutation 'R4893:Baz2a'
ID |
377415 |
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 |
042498-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4893 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 127959284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1266
(H1266Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000219072]
[ENSMUST00000220049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045621
AA Change: H1263Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: H1263Q
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 |
possibly damaging
Transcript: ENSMUST00000170054
AA Change: H1264Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: H1264Q
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 |
possibly damaging
Transcript: ENSMUST00000217851
AA Change: H1266Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220049
AA Change: H1263Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,697,904 (GRCm39) |
I401T |
probably damaging |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Acss1 |
C |
A |
2: 150,471,786 (GRCm39) |
V323F |
probably damaging |
Het |
Adgrf3 |
T |
G |
5: 30,405,476 (GRCm39) |
D286A |
probably benign |
Het |
Akap5 |
T |
C |
12: 76,376,743 (GRCm39) |
V718A |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,326,983 (GRCm39) |
V732A |
probably benign |
Het |
Antxr2 |
T |
A |
5: 98,151,931 (GRCm39) |
D180V |
probably damaging |
Het |
Arfgef2 |
T |
G |
2: 166,708,876 (GRCm39) |
F1063V |
probably benign |
Het |
Ascl5 |
A |
T |
1: 135,978,917 (GRCm39) |
I126F |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,417,577 (GRCm39) |
|
probably null |
Het |
Atf6b |
T |
C |
17: 34,867,586 (GRCm39) |
S100P |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,489,212 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
C |
G |
9: 108,726,620 (GRCm39) |
S3283C |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,630,934 (GRCm39) |
V309M |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,207,104 (GRCm39) |
Y436H |
probably damaging |
Het |
Csnk1a1 |
T |
C |
18: 61,718,372 (GRCm39) |
|
probably benign |
Het |
Cstf1 |
C |
T |
2: 172,222,444 (GRCm39) |
R401C |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,266,567 (GRCm39) |
I117T |
probably damaging |
Het |
Dlgap3 |
A |
G |
4: 127,088,776 (GRCm39) |
D124G |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,431,325 (GRCm39) |
D381G |
possibly damaging |
Het |
Dtna |
T |
C |
18: 23,702,724 (GRCm39) |
L85P |
probably damaging |
Het |
Ephb2 |
A |
G |
4: 136,387,064 (GRCm39) |
I722T |
probably damaging |
Het |
Epn3 |
A |
T |
11: 94,382,822 (GRCm39) |
F421I |
probably damaging |
Het |
Fam83f |
T |
A |
15: 80,576,156 (GRCm39) |
L269H |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
Gata4 |
G |
A |
14: 63,439,045 (GRCm39) |
A139V |
probably benign |
Het |
Glce |
T |
C |
9: 61,975,777 (GRCm39) |
D241G |
probably benign |
Het |
Gm17728 |
A |
T |
17: 9,641,063 (GRCm39) |
I58F |
probably benign |
Het |
Inhba |
A |
T |
13: 16,201,134 (GRCm39) |
D232V |
possibly damaging |
Het |
Itgb2l |
C |
A |
16: 96,229,021 (GRCm39) |
R394L |
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,690,992 (GRCm39) |
Y486C |
probably damaging |
Het |
Krt1 |
A |
G |
15: 101,758,555 (GRCm39) |
I203T |
probably damaging |
Het |
Lims2 |
T |
C |
18: 32,074,864 (GRCm39) |
|
probably null |
Het |
Lrrc31 |
T |
G |
3: 30,733,446 (GRCm39) |
I423L |
probably benign |
Het |
Map7d1 |
C |
T |
4: 126,127,015 (GRCm39) |
D732N |
unknown |
Het |
Mau2 |
A |
T |
8: 70,483,290 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
G |
A |
8: 120,244,932 (GRCm39) |
R840W |
probably damaging |
Het |
Morn3 |
T |
C |
5: 123,175,745 (GRCm39) |
I214M |
probably damaging |
Het |
Mrpl44 |
A |
G |
1: 79,755,582 (GRCm39) |
K63E |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,615,042 (GRCm39) |
T112A |
possibly damaging |
Het |
Myo6 |
T |
A |
9: 80,136,159 (GRCm39) |
L94Q |
probably damaging |
Het |
Nos1 |
C |
A |
5: 118,090,942 (GRCm39) |
T1423K |
possibly damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,653 (GRCm39) |
T22A |
probably benign |
Het |
Or2t1 |
T |
C |
14: 14,328,852 (GRCm38) |
V247A |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,385,429 (GRCm39) |
T1114A |
probably benign |
Het |
Pgm2 |
T |
C |
5: 64,263,283 (GRCm39) |
V310A |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,194,900 (GRCm39) |
E166G |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,436 (GRCm39) |
D303E |
probably damaging |
Het |
Pik3c3 |
G |
T |
18: 30,415,053 (GRCm39) |
V149L |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,365,026 (GRCm39) |
Y1126F |
probably benign |
Het |
Pkd2l1 |
T |
A |
19: 44,142,210 (GRCm39) |
Q516L |
probably benign |
Het |
Pnliprp2 |
C |
A |
19: 58,759,853 (GRCm39) |
Q355K |
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,943,688 (GRCm39) |
Y1314* |
probably null |
Het |
Ppp1r1b |
A |
G |
11: 98,246,170 (GRCm39) |
T51A |
possibly damaging |
Het |
Prkcd |
A |
T |
14: 30,321,382 (GRCm39) |
S544T |
probably damaging |
Het |
Pusl1 |
G |
A |
4: 155,973,998 (GRCm39) |
T252I |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,745 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
T |
4: 87,145,145 (GRCm39) |
V303E |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,285,697 (GRCm39) |
|
probably null |
Het |
Sox8 |
T |
C |
17: 25,787,963 (GRCm39) |
D162G |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,197,992 (GRCm39) |
|
probably null |
Het |
Taar6 |
T |
C |
10: 23,861,298 (GRCm39) |
I83V |
probably benign |
Het |
Tes |
T |
A |
6: 17,104,595 (GRCm39) |
C359S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,676 (GRCm39) |
L435H |
probably damaging |
Het |
Zfhx3 |
G |
T |
8: 109,683,639 (GRCm39) |
D3693Y |
unknown |
Het |
Zfp931 |
G |
A |
2: 177,709,996 (GRCm39) |
P130L |
probably damaging |
Het |
Zfr |
T |
G |
15: 12,136,628 (GRCm39) |
V95G |
unknown |
Het |
Zw10 |
A |
G |
9: 48,985,325 (GRCm39) |
E587G |
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 |
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 |
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'- AGTCCACCATTAGGGAATGTGATTC -3'
(R):5'- TTGGTCCTCAGAGACTGCAG -3'
Sequencing Primer
(F):5'- TGTGATTCAGAGCAAGCCC -3'
(R):5'- CCTCAGAGACTGCAGGAGGTG -3'
|
Posted On |
2016-03-17 |