Incidental Mutation 'R7101:Baz2a'
| ID |
550840 |
| 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 |
045193-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127957056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 936
(F936S)
|
| 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 damaging
Transcript: ENSMUST00000045621
AA Change: F933S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: F933S
| 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: F934S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: F934S
| 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: F936S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: F933S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,438 (GRCm39) |
D568G |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,386,965 (GRCm39) |
I130V |
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,622,194 (GRCm39) |
Q553K |
probably benign |
Het |
| Ankrd42 |
A |
T |
7: 92,280,752 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,218,249 (GRCm39) |
R318C |
probably damaging |
Het |
| Arrdc5 |
G |
A |
17: 56,601,522 (GRCm39) |
T201M |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,459,132 (GRCm39) |
S377P |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,766,483 (GRCm39) |
D913G |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,961,082 (GRCm39) |
M21L |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,401 (GRCm39) |
H132R |
probably benign |
Het |
| Ccdc154 |
A |
G |
17: 25,382,442 (GRCm39) |
H88R |
probably benign |
Het |
| Cfap20dc |
G |
T |
14: 8,511,171 (GRCm38) |
S414R |
possibly damaging |
Het |
| Clic5 |
G |
T |
17: 44,586,179 (GRCm39) |
A223S |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,795 (GRCm39) |
Y870F |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,502,006 (GRCm39) |
Q497* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,031,880 (GRCm39) |
T1763A |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,042,221 (GRCm39) |
R2005G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,389,722 (GRCm39) |
G541S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Ephb3 |
C |
T |
16: 21,037,268 (GRCm39) |
H455Y |
possibly damaging |
Het |
| Eri1 |
A |
C |
8: 35,949,777 (GRCm39) |
C127G |
probably damaging |
Het |
| Faf1 |
A |
T |
4: 109,783,153 (GRCm39) |
E548D |
probably benign |
Het |
| Gm3285 |
C |
A |
10: 77,698,194 (GRCm39) |
C114* |
probably null |
Het |
| Gm9736 |
C |
T |
10: 77,587,167 (GRCm39) |
V8I |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,174 (GRCm39) |
M1154L |
probably benign |
Het |
| Grin1 |
G |
A |
2: 25,186,647 (GRCm39) |
T770M |
probably damaging |
Het |
| Haus1 |
A |
G |
18: 77,854,570 (GRCm39) |
S67P |
possibly damaging |
Het |
| Homer1 |
C |
A |
13: 93,492,562 (GRCm39) |
Q184K |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,723,680 (GRCm39) |
T401A |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,631,907 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,212,038 (GRCm39) |
D612V |
probably damaging |
Het |
| Ltbr |
C |
G |
6: 125,289,763 (GRCm39) |
E144Q |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,063,579 (GRCm39) |
R961L |
possibly damaging |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo1b |
G |
T |
1: 51,797,160 (GRCm39) |
Q961K |
probably benign |
Het |
| Myo1h |
C |
A |
5: 114,480,258 (GRCm39) |
T531N |
|
Het |
| Ngly1 |
G |
A |
14: 16,283,445 (GRCm38) |
R408Q |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,632,966 (GRCm39) |
E1055G |
possibly damaging |
Het |
| Nutm2 |
A |
G |
13: 50,626,934 (GRCm39) |
K363R |
probably benign |
Het |
| Obox8 |
A |
T |
7: 14,066,752 (GRCm39) |
Y97* |
probably null |
Het |
| Odc1 |
A |
G |
12: 17,597,319 (GRCm39) |
D7G |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,558 (GRCm39) |
T182I |
unknown |
Het |
| Or2t49 |
A |
G |
11: 58,393,379 (GRCm39) |
M7T |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,844,324 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8b12b |
T |
C |
9: 37,684,287 (GRCm39) |
S111P |
probably damaging |
Het |
| Or8b46 |
G |
A |
9: 38,450,966 (GRCm39) |
M258I |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,430 (GRCm39) |
D188G |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,922 (GRCm39) |
E400G |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,100,397 (GRCm39) |
V222M |
possibly damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,683 (GRCm39) |
V536A |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,223,833 (GRCm39) |
V719A |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,381,226 (GRCm39) |
A242V |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,771 (GRCm39) |
L908P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,117,005 (GRCm39) |
N2146D |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,126,993 (GRCm39) |
V333A |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,825,442 (GRCm39) |
Y196H |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,828,784 (GRCm39) |
T75A |
probably benign |
Het |
| Slc35a4 |
T |
A |
18: 36,814,591 (GRCm39) |
L42H |
probably damaging |
Het |
| Svs3a |
A |
T |
2: 164,131,933 (GRCm39) |
D168V |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,637,422 (GRCm39) |
Y175* |
probably null |
Het |
| Tspan33 |
G |
T |
6: 29,716,783 (GRCm39) |
R180L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,232,958 (GRCm39) |
S145F |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,810,878 (GRCm39) |
T102I |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,376,183 (GRCm39) |
V1908E |
|
Het |
| Vmn2r101 |
A |
G |
17: 19,809,350 (GRCm39) |
I160V |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,358 (GRCm39) |
C638S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,682,777 (GRCm39) |
R3136Q |
|
Het |
| Zan |
C |
A |
5: 137,396,552 (GRCm39) |
A4335S |
unknown |
Het |
| Zfp180 |
G |
T |
7: 23,803,958 (GRCm39) |
V126F |
probably benign |
Het |
| Zfp429 |
T |
A |
13: 67,538,931 (GRCm39) |
D171V |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,931,708 (GRCm39) |
I798T |
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 |
|
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'- CAGTTTTACCTTAACCCTGGAAC -3'
(R):5'- CAGCATCCTCAGAGAAGAGC -3'
Sequencing Primer
(F):5'- TTAACCCTGGAACTCTCCCAGG -3'
(R):5'- TTCTGGAGAGCTAAGCCCCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation