Incidental Mutation 'R4907:Baz2a'
ID |
379127 |
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 |
042509-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127946677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 64
(T64A)
|
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 |
probably damaging
Transcript: ENSMUST00000045621
AA Change: T64A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: T64A
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: T64A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: T64A
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: T66A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218772
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219072
AA Change: T64A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219980
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: T64A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.0841 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
98% (89/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
G |
T |
1: 57,422,350 (GRCm39) |
G242V |
probably damaging |
Het |
4933412E24Rik |
T |
C |
15: 59,887,957 (GRCm39) |
E161G |
probably benign |
Het |
Abcc5 |
A |
G |
16: 20,195,296 (GRCm39) |
S734P |
possibly damaging |
Het |
Actn1 |
T |
G |
12: 80,228,188 (GRCm39) |
H394P |
probably damaging |
Het |
Adam8 |
A |
T |
7: 139,569,286 (GRCm39) |
D144E |
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,510,824 (GRCm39) |
N514K |
probably damaging |
Het |
Ankrd50 |
T |
A |
3: 38,509,122 (GRCm39) |
K1082* |
probably null |
Het |
Atp4a |
A |
G |
7: 30,418,517 (GRCm39) |
I602V |
possibly damaging |
Het |
Btbd19 |
A |
G |
4: 116,977,764 (GRCm39) |
|
probably benign |
Het |
Casz1 |
T |
A |
4: 149,028,998 (GRCm39) |
S1148T |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,284,007 (GRCm39) |
D103E |
probably benign |
Het |
Cd209d |
T |
C |
8: 3,927,948 (GRCm39) |
N52S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,066,053 (GRCm39) |
Y776N |
probably damaging |
Het |
Cdk14 |
A |
G |
5: 5,299,140 (GRCm39) |
V101A |
probably damaging |
Het |
Cldn22 |
T |
C |
8: 48,277,742 (GRCm39) |
V60A |
probably benign |
Het |
Clec10a |
G |
A |
11: 70,060,797 (GRCm39) |
G183D |
probably benign |
Het |
Cnga3 |
T |
C |
1: 37,281,023 (GRCm39) |
|
probably null |
Het |
Cts3 |
A |
T |
13: 61,714,634 (GRCm39) |
F224I |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,922,472 (GRCm39) |
|
probably null |
Het |
Fbxo40 |
A |
G |
16: 36,790,064 (GRCm39) |
Y349H |
probably benign |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Gm10029 |
A |
T |
13: 6,712,592 (GRCm39) |
|
noncoding transcript |
Het |
Gm14399 |
T |
A |
2: 174,973,182 (GRCm39) |
|
probably benign |
Het |
Gm9932 |
T |
C |
5: 100,347,014 (GRCm39) |
|
noncoding transcript |
Het |
Immp1l |
A |
G |
2: 105,767,462 (GRCm39) |
Y107C |
probably damaging |
Het |
Ism1 |
G |
T |
2: 139,520,672 (GRCm39) |
G28V |
probably benign |
Het |
Klf1 |
C |
A |
8: 85,629,814 (GRCm39) |
S213* |
probably null |
Het |
Krt12 |
T |
C |
11: 99,309,188 (GRCm39) |
E329G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 27,040,942 (GRCm39) |
N1460K |
probably benign |
Het |
Llgl2 |
T |
A |
11: 115,744,800 (GRCm39) |
Y932* |
probably null |
Het |
Lrrc7 |
T |
C |
3: 157,866,877 (GRCm39) |
I955V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,312,899 (GRCm39) |
R7G |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,329,275 (GRCm39) |
E1152G |
probably damaging |
Het |
Mgam2-ps |
T |
C |
6: 40,811,677 (GRCm39) |
|
noncoding transcript |
Het |
Mical3 |
T |
A |
6: 120,984,259 (GRCm39) |
M206L |
probably benign |
Het |
Mndal |
T |
G |
1: 173,690,256 (GRCm39) |
N358T |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,953,889 (GRCm39) |
S824P |
possibly damaging |
Het |
Ndufb2 |
T |
C |
6: 39,573,554 (GRCm39) |
|
probably benign |
Het |
Nfatc3 |
C |
A |
8: 106,806,359 (GRCm39) |
H401Q |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,401,066 (GRCm39) |
V810A |
unknown |
Het |
Nt5c2 |
A |
G |
19: 46,884,978 (GRCm39) |
V245A |
possibly damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,270 (GRCm39) |
I71F |
probably benign |
Het |
Or4d5 |
A |
T |
9: 40,011,955 (GRCm39) |
M277K |
probably benign |
Het |
Or51ah3 |
A |
G |
7: 103,210,241 (GRCm39) |
M186V |
possibly damaging |
Het |
Or52h9 |
A |
G |
7: 104,202,518 (GRCm39) |
R131G |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,157 (GRCm39) |
D181G |
probably damaging |
Het |
Otof |
A |
T |
5: 30,536,005 (GRCm39) |
|
probably null |
Het |
Pck1 |
C |
T |
2: 172,998,816 (GRCm39) |
T358I |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,730,065 (GRCm39) |
|
probably benign |
Het |
Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
Pgr |
G |
A |
9: 8,947,044 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,367,475 (GRCm39) |
V1224E |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,142,581 (GRCm39) |
V487A |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,279,450 (GRCm39) |
D2956G |
probably damaging |
Het |
Rexo2 |
A |
T |
9: 48,390,703 (GRCm39) |
|
probably null |
Het |
Rgs22 |
T |
A |
15: 36,087,570 (GRCm39) |
L573F |
possibly damaging |
Het |
Rufy3 |
T |
G |
5: 88,732,051 (GRCm39) |
I18S |
possibly damaging |
Het |
Slc30a9 |
T |
C |
5: 67,503,505 (GRCm39) |
L393P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,506,259 (GRCm39) |
I214V |
probably benign |
Het |
Sorbs1 |
G |
A |
19: 40,328,491 (GRCm39) |
Q595* |
probably null |
Het |
Spata21 |
T |
A |
4: 140,824,432 (GRCm39) |
|
probably null |
Het |
Ss18l1 |
G |
T |
2: 179,705,192 (GRCm39) |
|
probably null |
Het |
Tmem163 |
A |
T |
1: 127,447,107 (GRCm39) |
L176H |
probably damaging |
Het |
Tpd52 |
T |
C |
3: 9,009,668 (GRCm39) |
|
probably null |
Het |
Tpsab1 |
T |
A |
17: 25,562,436 (GRCm39) |
Y297F |
possibly damaging |
Het |
Trim55 |
A |
G |
3: 19,728,538 (GRCm39) |
T450A |
probably benign |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Txndc11 |
A |
T |
16: 10,906,398 (GRCm39) |
H377Q |
probably benign |
Het |
Usp17la |
A |
G |
7: 104,510,355 (GRCm39) |
Y320C |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,770,348 (GRCm39) |
N547D |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
Wdr33 |
T |
C |
18: 32,040,046 (GRCm39) |
*1331Q |
probably null |
Het |
Wdr90 |
T |
A |
17: 26,079,624 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
T |
C |
14: 70,908,069 (GRCm39) |
M903V |
probably benign |
Het |
Zfhx3 |
T |
A |
8: 109,519,986 (GRCm39) |
S369R |
probably damaging |
Het |
Zfp808 |
T |
C |
13: 62,319,287 (GRCm39) |
F172S |
possibly damaging |
Het |
Zfp821 |
A |
G |
8: 110,450,625 (GRCm39) |
E55G |
probably benign |
Het |
Zfp964 |
T |
C |
8: 70,115,972 (GRCm39) |
Y191H |
possibly damaging |
Het |
Zfyve1 |
T |
C |
12: 83,621,646 (GRCm39) |
T250A |
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 |
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 |
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'- AAGTTTAGTGTCCCCTTGAGAG -3'
(R):5'- ATGAAGGTTGTCGGTTGCCC -3'
Sequencing Primer
(F):5'- TGTCCCCTTGAGAGGTAGAAG -3'
(R):5'- TTGCCCCCAAGGATACCGTTG -3'
|
Posted On |
2016-04-15 |