Incidental Mutation 'R6894:Baz2a'
ID |
538236 |
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 |
044988-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6894 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 127959450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 1322
(A1322S)
|
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 benign
Transcript: ENSMUST00000045621
AA Change: A1319S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: A1319S
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: A1320S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: A1320S
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: A1322S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220049
AA Change: A1319S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
C |
A |
2: 151,315,227 (GRCm39) |
L150F |
probably damaging |
Het |
4930449I24Rik |
G |
A |
5: 146,441,542 (GRCm39) |
E230K |
possibly damaging |
Het |
4930449I24Rik |
A |
T |
5: 146,441,543 (GRCm39) |
E230V |
probably benign |
Het |
9430038I01Rik |
A |
G |
7: 136,989,117 (GRCm39) |
C93R |
possibly damaging |
Het |
Aoc1l2 |
G |
A |
6: 48,907,596 (GRCm39) |
A199T |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,568,201 (GRCm39) |
|
probably benign |
Het |
Arl4c |
T |
A |
1: 88,629,097 (GRCm39) |
D97V |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,890,298 (GRCm39) |
T726A |
probably benign |
Het |
Asz1 |
A |
C |
6: 18,055,520 (GRCm39) |
F359V |
probably damaging |
Het |
Atr |
T |
A |
9: 95,809,250 (GRCm39) |
L1970H |
probably damaging |
Het |
Cd209e |
T |
A |
8: 3,903,569 (GRCm39) |
I37F |
possibly damaging |
Het |
Cd209f |
T |
C |
8: 4,155,477 (GRCm39) |
K37R |
probably benign |
Het |
Cd5 |
G |
C |
19: 10,716,203 (GRCm39) |
S3C |
possibly damaging |
Het |
Clec16a |
A |
T |
16: 10,462,718 (GRCm39) |
I260F |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,603,428 (GRCm39) |
Y799* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,216,852 (GRCm39) |
L690P |
probably damaging |
Het |
Csde1 |
G |
A |
3: 102,951,972 (GRCm39) |
V258I |
possibly damaging |
Het |
Dennd5a |
G |
T |
7: 109,500,325 (GRCm39) |
H909Q |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,456,904 (GRCm39) |
D890G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,375,086 (GRCm39) |
M1379K |
probably benign |
Het |
Dpp10 |
A |
T |
1: 123,264,593 (GRCm39) |
I743N |
probably damaging |
Het |
Dpp9 |
T |
A |
17: 56,495,321 (GRCm39) |
T815S |
probably damaging |
Het |
Ears2 |
T |
C |
7: 121,647,447 (GRCm39) |
N279S |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,045,128 (GRCm39) |
|
probably null |
Het |
Eomes |
C |
G |
9: 118,310,353 (GRCm39) |
P288A |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,909,072 (GRCm39) |
D2310G |
probably damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,854 (GRCm39) |
T143A |
probably benign |
Het |
Gdf9 |
A |
G |
11: 53,327,646 (GRCm39) |
K201E |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,828,710 (GRCm39) |
R228Q |
probably damaging |
Het |
Grin1 |
A |
T |
2: 25,185,829 (GRCm39) |
V876E |
probably damaging |
Het |
Igkv12-41 |
A |
C |
6: 69,835,635 (GRCm39) |
V39G |
probably damaging |
Het |
Kat7 |
A |
T |
11: 95,174,910 (GRCm39) |
M367K |
possibly damaging |
Het |
Ly6d |
T |
C |
15: 74,634,654 (GRCm39) |
K33E |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,529,998 (GRCm39) |
N273S |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,377,480 (GRCm39) |
I1485F |
possibly damaging |
Het |
Marchf10 |
G |
T |
11: 105,287,787 (GRCm39) |
L172I |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,748,614 (GRCm39) |
S4220A |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,406,872 (GRCm39) |
V8460A |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,282,936 (GRCm39) |
F769L |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk4 |
A |
G |
13: 32,905,998 (GRCm39) |
L395P |
probably damaging |
Het |
Nat8f6 |
A |
T |
6: 85,785,504 (GRCm39) |
L215* |
probably null |
Het |
Nell2 |
T |
C |
15: 95,244,768 (GRCm39) |
D443G |
probably damaging |
Het |
Nkx6-3 |
A |
G |
8: 23,647,632 (GRCm39) |
K197R |
probably benign |
Het |
Nt5c3 |
A |
T |
6: 56,859,958 (GRCm39) |
L293* |
probably null |
Het |
Ntrk1 |
A |
T |
3: 87,690,109 (GRCm39) |
V429D |
probably damaging |
Het |
Obscn |
A |
G |
11: 59,023,508 (GRCm39) |
V623A |
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,051,186 (GRCm39) |
F115S |
probably benign |
Het |
Or4c1 |
A |
G |
2: 89,133,837 (GRCm39) |
L33S |
probably damaging |
Het |
Or5ac21 |
A |
G |
16: 59,124,142 (GRCm39) |
T209A |
probably damaging |
Het |
Or5p5 |
C |
T |
7: 107,414,271 (GRCm39) |
T160I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,178 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,163,295 (GRCm39) |
I135N |
probably damaging |
Het |
Pate3 |
T |
A |
9: 35,557,969 (GRCm39) |
D33V |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,034,747 (GRCm39) |
I1843N |
probably damaging |
Het |
Pla2g4f |
A |
T |
2: 120,134,077 (GRCm39) |
I503N |
probably benign |
Het |
Prkg1 |
C |
A |
19: 30,602,174 (GRCm39) |
E361* |
probably null |
Het |
Proca1 |
A |
G |
11: 78,085,613 (GRCm39) |
|
probably benign |
Het |
Prss38 |
G |
T |
11: 59,263,850 (GRCm39) |
H287Q |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,744,114 (GRCm39) |
E169G |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,681,440 (GRCm39) |
S65G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,592,135 (GRCm39) |
H177L |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,050,609 (GRCm39) |
G276D |
possibly damaging |
Het |
Spag6l |
A |
T |
16: 16,601,802 (GRCm39) |
L159I |
probably damaging |
Het |
Spata31f1a |
G |
A |
4: 42,850,291 (GRCm39) |
P622S |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,935,269 (GRCm39) |
E174D |
possibly damaging |
Het |
Stxbp5 |
A |
T |
10: 9,660,105 (GRCm39) |
V730E |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,872,702 (GRCm39) |
L168* |
probably null |
Het |
Tnrc18 |
A |
T |
5: 142,745,804 (GRCm39) |
M1323K |
unknown |
Het |
Tpr |
T |
C |
1: 150,312,598 (GRCm39) |
V1932A |
probably benign |
Het |
Trak2 |
A |
G |
1: 58,950,892 (GRCm39) |
S432P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,738,534 (GRCm39) |
F4002I |
probably benign |
Het |
Txndc11 |
G |
A |
16: 10,906,009 (GRCm39) |
T507I |
probably damaging |
Het |
Usp12 |
G |
A |
5: 146,691,349 (GRCm39) |
T135I |
possibly damaging |
Het |
Vit |
T |
A |
17: 78,934,187 (GRCm39) |
Y596* |
probably null |
Het |
Vmn1r32 |
A |
T |
6: 66,530,345 (GRCm39) |
Y144N |
possibly damaging |
Het |
Vmn2r80 |
G |
T |
10: 79,005,438 (GRCm39) |
L358F |
probably benign |
Het |
Zfp382 |
T |
G |
7: 29,825,261 (GRCm39) |
S38A |
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 |
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'- TGGGTTCCTAGAGCCAGAAG -3'
(R):5'- CAGCACCGGGTGTATTCATC -3'
Sequencing Primer
(F):5'- TTCCTAGAGCCAGAAGGTTCC -3'
(R):5'- GCACCGGGTGTATTCATCTACAAAG -3'
|
Posted On |
2018-11-06 |