Incidental Mutation 'R1482:Baz2a'
| ID |
164458 |
| 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 |
039535-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1482 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127944877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 38
(M38K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000219072]
[ENSMUST00000220049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045621
AA Change: M38K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: M38K
| 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: M38K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: M38K
| 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: M40K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218772
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219072
AA Change: M38K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219980
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220049
AA Change: M38K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 83.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
G |
A |
19: 3,767,192 (GRCm39) |
D260N |
probably benign |
Het |
| Ankef1 |
A |
T |
2: 136,392,078 (GRCm39) |
K422N |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aqp6 |
A |
T |
15: 99,502,188 (GRCm39) |
*294C |
probably null |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,265 (GRCm39) |
D151G |
probably damaging |
Het |
| Cabp5 |
T |
A |
7: 13,132,267 (GRCm39) |
L12* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,845,795 (GRCm39) |
V993A |
possibly damaging |
Het |
| Cd44 |
G |
A |
2: 102,661,728 (GRCm39) |
T306I |
probably damaging |
Het |
| Cdc20 |
A |
T |
4: 118,294,253 (GRCm39) |
N22K |
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,807,807 (GRCm39) |
D433E |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,503,725 (GRCm39) |
D47G |
probably damaging |
Het |
| Csf2 |
T |
C |
11: 54,139,389 (GRCm39) |
K65E |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,819,473 (GRCm39) |
E2005G |
probably damaging |
Het |
| Dclk3 |
G |
T |
9: 111,296,888 (GRCm39) |
R144L |
possibly damaging |
Het |
| Dcpp2 |
C |
T |
17: 24,119,516 (GRCm39) |
T110I |
probably damaging |
Het |
| Disp1 |
A |
T |
1: 182,868,038 (GRCm39) |
F1461I |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,016,831 (GRCm39) |
G1562D |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,820,163 (GRCm39) |
K1217E |
possibly damaging |
Het |
| Exoc3l2 |
C |
A |
7: 19,229,284 (GRCm39) |
P234Q |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,838,047 (GRCm39) |
V364A |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,876 (GRCm39) |
L265P |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,674 (GRCm39) |
Q253L |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,406,281 (GRCm39) |
V1011M |
probably benign |
Het |
| Fbxo6 |
G |
A |
4: 148,230,441 (GRCm39) |
R274* |
probably null |
Het |
| Fgd4 |
G |
T |
16: 16,302,337 (GRCm39) |
Q73K |
probably benign |
Het |
| Fth1 |
A |
G |
19: 9,962,217 (GRCm39) |
T154A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,370,866 (GRCm39) |
H572Q |
probably benign |
Het |
| Kcnk10 |
G |
A |
12: 98,456,207 (GRCm39) |
T208I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,552,635 (GRCm39) |
V1204M |
probably damaging |
Het |
| Keg1 |
A |
C |
19: 12,696,185 (GRCm39) |
H166P |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,662,218 (GRCm39) |
D74V |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,218 (GRCm39) |
V219A |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,451 (GRCm39) |
I173T |
possibly damaging |
Het |
| Mov10 |
G |
T |
3: 104,711,862 (GRCm39) |
P170Q |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,847 (GRCm39) |
A286S |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,963,997 (GRCm39) |
Y244C |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,987,414 (GRCm39) |
C359S |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,463,667 (GRCm39) |
T633I |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,512 (GRCm39) |
T22S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,043 (GRCm39) |
L342M |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,540 (GRCm39) |
F223L |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,463 (GRCm39) |
R153S |
probably damaging |
Het |
| Or6c205 |
T |
A |
10: 129,087,012 (GRCm39) |
I203N |
possibly damaging |
Het |
| Or7e176 |
G |
A |
9: 20,172,020 (GRCm39) |
V295I |
possibly damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,821,590 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
T |
1: 62,205,526 (GRCm39) |
D440V |
probably damaging |
Het |
| Pou3f2 |
T |
G |
4: 22,486,960 (GRCm39) |
D391A |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,139,512 (GRCm39) |
V79A |
probably benign |
Het |
| Rwdd2a |
A |
G |
9: 86,456,331 (GRCm39) |
D169G |
probably damaging |
Het |
| Scn3b |
A |
C |
9: 40,190,792 (GRCm39) |
D74A |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 79,130,050 (GRCm39) |
D61N |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,053,004 (GRCm39) |
D2089E |
probably damaging |
Het |
| Vmn2r69 |
C |
G |
7: 85,056,082 (GRCm39) |
W685C |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,348 (GRCm39) |
Q1272R |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,160,462 (GRCm39) |
F699L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,803 (GRCm39) |
N448K |
possibly damaging |
Het |
| Zfp618 |
C |
A |
4: 63,033,685 (GRCm39) |
D307E |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,914,844 (GRCm39) |
F1219S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,687 (GRCm39) |
D248E |
probably 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 |
|
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 |
|
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'- GCACATCACAAATGTCCGACAGGTC -3'
(R):5'- TCTGCCAGTAGCCAGCAAAAGG -3'
Sequencing Primer
(F):5'- AGGTCGGGCTTTCCCAATAG -3'
(R):5'- ATCTGATGGTGCCCATCCTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation