Incidental Mutation 'R7268:Baz2a'
| ID |
565089 |
| 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 |
045319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127960090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1459
(H1459R)
|
| 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: H1456R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: H1456R
| 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: H1457R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: H1457R
| 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: H1459R
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: H1456R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,509 (GRCm39) |
|
probably null |
Het |
| Acsf3 |
A |
G |
8: 123,517,401 (GRCm39) |
Y399C |
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,511 (GRCm39) |
T361S |
probably benign |
Het |
| Agap1 |
T |
G |
1: 89,694,070 (GRCm39) |
I456S |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alb |
T |
A |
5: 90,610,575 (GRCm39) |
S52T |
probably benign |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Armt1 |
G |
A |
10: 4,400,855 (GRCm39) |
V201M |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,605,792 (GRCm39) |
T388A |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,930 (GRCm39) |
L770P |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,192,003 (GRCm39) |
W578R |
possibly damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,197 (GRCm39) |
S2P |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,658,575 (GRCm39) |
R233Q |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,575,586 (GRCm39) |
G1076R |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,483 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,490,077 (GRCm39) |
N273D |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,208,880 (GRCm39) |
D458G |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,607,633 (GRCm39) |
H982L |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,246,479 (GRCm39) |
K386E |
possibly damaging |
Het |
| Ctcfl |
A |
G |
2: 172,949,588 (GRCm39) |
I415T |
probably benign |
Het |
| Cyp3a16 |
G |
C |
5: 145,404,280 (GRCm39) |
Y54* |
probably null |
Het |
| Dact2 |
T |
C |
17: 14,416,797 (GRCm39) |
T468A |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,197,554 (GRCm39) |
L355* |
probably null |
Het |
| Dhx40 |
A |
T |
11: 86,697,442 (GRCm39) |
C42S |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dop1a |
G |
T |
9: 86,394,830 (GRCm39) |
E637* |
probably null |
Het |
| Dpp4 |
G |
T |
2: 62,178,186 (GRCm39) |
P649T |
probably damaging |
Het |
| Eri3 |
T |
A |
4: 117,506,580 (GRCm39) |
I303K |
probably benign |
Het |
| Foxi1 |
A |
T |
11: 34,155,783 (GRCm39) |
Y282* |
probably null |
Het |
| Gdi2 |
T |
A |
13: 3,606,363 (GRCm39) |
Y146* |
probably null |
Het |
| Gns |
A |
G |
10: 121,212,557 (GRCm39) |
Y173C |
probably damaging |
Het |
| Gpc1 |
C |
A |
1: 92,786,093 (GRCm39) |
P494Q |
possibly damaging |
Het |
| Habp2 |
G |
T |
19: 56,302,518 (GRCm39) |
G274V |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,544,846 (GRCm39) |
Y159* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,347,978 (GRCm39) |
S4875T |
possibly damaging |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,796 (GRCm39) |
N318S |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,758,803 (GRCm39) |
M847K |
probably benign |
Het |
| Mmp16 |
A |
C |
4: 18,093,366 (GRCm39) |
M374L |
probably benign |
Het |
| Mrpl38 |
A |
G |
11: 116,029,396 (GRCm39) |
I40T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,908,830 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nlrp1a |
C |
T |
11: 71,015,068 (GRCm39) |
V61I |
probably benign |
Het |
| Npas2 |
G |
T |
1: 39,326,658 (GRCm39) |
V48L |
probably damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,605 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or52ac1 |
G |
A |
7: 104,246,284 (GRCm39) |
L35F |
probably benign |
Het |
| Or6c6 |
C |
T |
10: 129,187,263 (GRCm39) |
T277I |
possibly damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,368,713 (GRCm39) |
N268K |
possibly damaging |
Het |
| Pramel14 |
A |
T |
4: 143,720,090 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,135 (GRCm39) |
L249P |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,894,508 (GRCm39) |
V168D |
probably damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,586 (GRCm39) |
T395K |
possibly damaging |
Het |
| Ptgis |
A |
G |
2: 167,048,676 (GRCm39) |
Y447H |
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,575,102 (GRCm39) |
N607I |
probably benign |
Het |
| Rps6ka2 |
T |
C |
17: 7,562,662 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,049,406 (GRCm39) |
R1010H |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,827 (GRCm39) |
D331Y |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,370,479 (GRCm39) |
S240N |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,214,826 (GRCm39) |
L620P |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,351,473 (GRCm39) |
E847G |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,052,369 (GRCm39) |
V103A |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,404 (GRCm39) |
Y591H |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
G |
A |
13: 40,882,236 (GRCm39) |
T15I |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,962,188 (GRCm39) |
R544* |
probably null |
Het |
| Tmem116 |
T |
A |
5: 121,605,918 (GRCm39) |
I90K |
|
Het |
| Tmem30c |
A |
C |
16: 57,086,777 (GRCm39) |
L342R |
probably damaging |
Het |
| Trpm6 |
C |
T |
19: 18,755,949 (GRCm39) |
T64I |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,819,159 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,816,307 (GRCm39) |
I692T |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,853 (GRCm39) |
F82V |
probably benign |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,378 (GRCm39) |
C142Y |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,331 (GRCm39) |
Y401* |
probably null |
Het |
| Wdr91 |
A |
G |
6: 34,869,375 (GRCm39) |
V383A |
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 |
|
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'- CTGGTGAGCAAACTTGGCTAGG -3'
(R):5'- GACCAGCTCATAACGCCTTC -3'
Sequencing Primer
(F):5'- ACATGGAGGTAATTGCAGTTTCC -3'
(R):5'- TTCTTCCAAGGCAGGGAGCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation