Incidental Mutation 'R7993:Baz2a'
| ID |
651881 |
| 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 |
046034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127961491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1706
(F1706L)
|
| 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: F1703L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: F1703L
| 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 benign
Transcript: ENSMUST00000170054
AA Change: F1704L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: F1704L
| 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 benign
Transcript: ENSMUST00000217851
AA Change: F1706L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: F1703L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,803,231 (GRCm39) |
V689D |
possibly damaging |
Het |
| Adamts17 |
T |
C |
7: 66,499,612 (GRCm39) |
V53A |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,235,866 (GRCm39) |
N515S |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,542 (GRCm39) |
N183K |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,878 (GRCm39) |
V88A |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,406 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
A |
C |
2: 14,968,731 (GRCm39) |
N199T |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,718,279 (GRCm39) |
Y296* |
probably null |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,206 (GRCm39) |
K290* |
probably null |
Het |
| Cideb |
G |
T |
14: 55,995,899 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,097 (GRCm39) |
Y413N |
probably damaging |
Het |
| Csrp1 |
T |
A |
1: 135,674,453 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
C |
T |
4: 96,335,456 (GRCm39) |
|
probably null |
Het |
| Dcbld1 |
T |
A |
10: 52,137,884 (GRCm39) |
Y49* |
probably null |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,888,524 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
C |
T |
4: 99,544,841 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gipc3 |
T |
C |
10: 81,173,805 (GRCm39) |
D269G |
probably damaging |
Het |
| Gm4861 |
G |
A |
3: 137,256,417 (GRCm39) |
T63M |
probably damaging |
Het |
| Hmga1b |
C |
A |
11: 120,653,833 (GRCm39) |
A40E |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,306,264 (GRCm39) |
M3889K |
probably benign |
Het |
| Inhca |
T |
A |
9: 103,140,332 (GRCm39) |
K462N |
probably benign |
Het |
| Klk14 |
T |
A |
7: 43,344,367 (GRCm39) |
M226K |
probably benign |
Het |
| Liph |
T |
G |
16: 21,777,562 (GRCm39) |
M413L |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,787 (GRCm39) |
D2636G |
unknown |
Het |
| Lrrk1 |
G |
A |
7: 65,912,202 (GRCm39) |
T1786M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,135,057 (GRCm39) |
S1958G |
possibly damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,481 (GRCm39) |
F484S |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,308,173 (GRCm39) |
H890Y |
|
Het |
| Nectin3 |
T |
C |
16: 46,279,184 (GRCm39) |
I265V |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,211,322 (GRCm39) |
T282I |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,134 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
T |
C |
4: 6,398,647 (GRCm39) |
D819G |
probably benign |
Het |
| Or8b8 |
A |
T |
9: 37,808,633 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,044 (GRCm39) |
D665V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,895,262 (GRCm39) |
D616G |
|
Het |
| Plppr2 |
A |
T |
9: 21,858,258 (GRCm39) |
H286L |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,085 (GRCm39) |
T1203A |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,777 (GRCm39) |
V180E |
probably damaging |
Het |
| Ppp1r18 |
T |
A |
17: 36,184,718 (GRCm39) |
I551N |
probably benign |
Het |
| Psg28 |
C |
T |
7: 18,160,401 (GRCm39) |
C265Y |
possibly damaging |
Het |
| Psmc1 |
A |
G |
12: 100,081,824 (GRCm39) |
D142G |
probably benign |
Het |
| Rabgap1l |
G |
T |
1: 160,528,424 (GRCm39) |
A394E |
probably damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,470 (GRCm39) |
P303L |
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,821 (GRCm39) |
V185A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,999,443 (GRCm39) |
Q1169L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,541 (GRCm39) |
D607G |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,366,294 (GRCm39) |
Y134H |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,492,490 (GRCm39) |
E600K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,840 (GRCm39) |
E189G |
possibly damaging |
Het |
| Scn4b |
G |
T |
9: 45,059,007 (GRCm39) |
V93L |
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,407 (GRCm39) |
T15S |
possibly damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,296,356 (GRCm39) |
C319* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,854,437 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
A |
14: 51,067,710 (GRCm39) |
I2169F |
probably benign |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,458 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,026 (GRCm39) |
Y434C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,327,622 (GRCm39) |
S1056T |
|
Het |
| Vmn1r230 |
T |
A |
17: 21,067,312 (GRCm39) |
M167K |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,862 (GRCm39) |
M685L |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,047 (GRCm39) |
V3554D |
probably damaging |
Het |
| Zfp1010 |
C |
T |
2: 176,957,015 (GRCm39) |
G161D |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,405,234 (GRCm39) |
S402P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,379 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
C |
A |
2: 166,897,857 (GRCm39) |
E356* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,808,291 (GRCm39) |
T292A |
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 |
|
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 |
|
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'- CTGTCAACAAAGTGGTAAGTCTGG -3'
(R):5'- AAACATGCTGTCACAGGCC -3'
Sequencing Primer
(F):5'- CAAAGTGGTAAGTCTGGAAATACTTG -3'
(R):5'- ATGCTGTCACAGGCCCATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation