Incidental Mutation 'R1983:Baz2a'
ID |
220184 |
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 |
039995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1983 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127959828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1408
(T1408I)
|
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 benign
Transcript: ENSMUST00000045621
AA Change: T1408I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: T1408I
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: T1409I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: T1409I
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: T1411I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220049
AA Change: T1408I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
A |
17: 15,164,272 (GRCm39) |
V133E |
probably damaging |
Het |
Aco1 |
G |
A |
4: 40,175,845 (GRCm39) |
G160S |
probably benign |
Het |
Actn2 |
C |
T |
13: 12,293,696 (GRCm39) |
R608H |
probably benign |
Het |
Adora2a |
A |
C |
10: 75,169,480 (GRCm39) |
S315R |
probably benign |
Het |
Arhgap42 |
T |
C |
9: 9,017,018 (GRCm39) |
Y382C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atg4c |
A |
G |
4: 99,116,812 (GRCm39) |
Y318C |
probably damaging |
Het |
Bbx |
T |
A |
16: 50,029,480 (GRCm39) |
Q663L |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,942,014 (GRCm39) |
D273G |
probably null |
Het |
Btbd3 |
T |
G |
2: 138,125,608 (GRCm39) |
L264R |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,662,194 (GRCm39) |
I391T |
probably damaging |
Het |
Chadl |
T |
C |
15: 81,578,097 (GRCm39) |
I45V |
probably benign |
Het |
Chd5 |
C |
A |
4: 152,469,123 (GRCm39) |
A1853D |
possibly damaging |
Het |
Cmas |
G |
T |
6: 142,716,312 (GRCm39) |
D251Y |
probably damaging |
Het |
Cyp2d10 |
A |
G |
15: 82,290,200 (GRCm39) |
M90T |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,050,341 (GRCm39) |
F714L |
probably benign |
Het |
Dguok |
A |
T |
6: 83,464,110 (GRCm39) |
Y126* |
probably null |
Het |
Dnai1 |
A |
G |
4: 41,603,232 (GRCm39) |
K172E |
probably benign |
Het |
Dnai2 |
T |
A |
11: 114,626,682 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
T |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
Eln |
A |
T |
5: 134,765,194 (GRCm39) |
|
probably null |
Het |
Epor |
T |
C |
9: 21,870,696 (GRCm39) |
T395A |
probably benign |
Het |
Evc2 |
G |
T |
5: 37,573,275 (GRCm39) |
E996* |
probably null |
Het |
Fam124b |
T |
A |
1: 80,191,364 (GRCm39) |
E6D |
probably benign |
Het |
Filip1 |
T |
A |
9: 79,767,374 (GRCm39) |
K146N |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,637 (GRCm39) |
S742P |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,810,175 (GRCm39) |
V2165L |
probably benign |
Het |
Gcdh |
A |
T |
8: 85,617,539 (GRCm39) |
V227E |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,183 (GRCm39) |
N336S |
probably benign |
Het |
Gm12695 |
G |
T |
4: 96,627,214 (GRCm39) |
A399E |
possibly damaging |
Het |
Gm16503 |
T |
A |
4: 147,625,749 (GRCm39) |
V81E |
unknown |
Het |
Gpr137c |
T |
C |
14: 45,517,428 (GRCm39) |
V388A |
probably benign |
Het |
Hgf |
A |
G |
5: 16,766,010 (GRCm39) |
T49A |
possibly damaging |
Het |
Hspa1a |
G |
T |
17: 35,189,938 (GRCm39) |
R322S |
probably benign |
Het |
Jak3 |
A |
T |
8: 72,131,019 (GRCm39) |
Q13L |
possibly damaging |
Het |
Jak3 |
A |
G |
8: 72,140,780 (GRCm39) |
R1098G |
probably benign |
Het |
Kif11 |
C |
T |
19: 37,379,224 (GRCm39) |
T305I |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,546,806 (GRCm39) |
V130E |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,416 (GRCm39) |
|
probably null |
Het |
Mdga1 |
G |
A |
17: 30,069,579 (GRCm39) |
R430C |
probably damaging |
Het |
Mfsd12 |
T |
A |
10: 81,198,090 (GRCm39) |
|
probably null |
Het |
Mmp27 |
T |
A |
9: 7,578,898 (GRCm39) |
|
probably null |
Het |
Mtnr1a |
A |
T |
8: 45,540,471 (GRCm39) |
N144I |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,383,407 (GRCm39) |
T3563A |
probably damaging |
Het |
Myef2 |
T |
A |
2: 124,940,765 (GRCm39) |
M355L |
probably benign |
Het |
Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
Or5b104 |
A |
G |
19: 13,072,748 (GRCm39) |
I88T |
probably benign |
Het |
Or5p51 |
C |
T |
7: 107,444,619 (GRCm39) |
G107D |
probably benign |
Het |
Or8k27 |
T |
A |
2: 86,275,420 (GRCm39) |
H302L |
probably benign |
Het |
Parg |
A |
G |
14: 31,939,653 (GRCm39) |
K560E |
probably damaging |
Het |
Pck2 |
G |
A |
14: 55,781,525 (GRCm39) |
|
probably null |
Het |
Pdcd6 |
T |
C |
13: 74,452,119 (GRCm39) |
I174V |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,009,066 (GRCm39) |
L57S |
probably damaging |
Het |
Pomgnt1 |
C |
A |
4: 116,009,117 (GRCm39) |
P74Q |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,817 (GRCm39) |
Y146C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,998,006 (GRCm39) |
M248V |
probably damaging |
Het |
Ric8b |
T |
A |
10: 84,837,702 (GRCm39) |
M503K |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,444 (GRCm39) |
V871M |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,758,897 (GRCm39) |
N3427S |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,600,288 (GRCm39) |
|
probably null |
Het |
Scimp |
C |
T |
11: 70,691,540 (GRCm39) |
V30I |
probably damaging |
Het |
Skint4 |
A |
G |
4: 112,003,689 (GRCm39) |
E374G |
probably benign |
Het |
Slc6a20a |
A |
G |
9: 123,469,652 (GRCm39) |
Y482H |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
Spopfm2 |
T |
G |
3: 94,083,601 (GRCm39) |
D70A |
possibly damaging |
Het |
Strc |
T |
A |
2: 121,201,518 (GRCm39) |
M1229L |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,624,853 (GRCm39) |
T1699K |
possibly damaging |
Het |
Terf2 |
T |
C |
8: 107,809,640 (GRCm39) |
Y226C |
probably damaging |
Het |
Tex10 |
A |
T |
4: 48,460,059 (GRCm39) |
L431I |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,902,867 (GRCm39) |
V1470A |
possibly damaging |
Het |
Ttll13 |
T |
C |
7: 79,903,364 (GRCm39) |
I248T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,619,369 (GRCm39) |
N16031S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,587,104 (GRCm39) |
K21631M |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,322,351 (GRCm39) |
S292C |
probably damaging |
Het |
Vmn1r80 |
A |
T |
7: 11,927,588 (GRCm39) |
M233L |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,378,840 (GRCm39) |
M129K |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,914,539 (GRCm39) |
N1754K |
probably damaging |
Het |
Xirp1 |
G |
A |
9: 119,845,695 (GRCm39) |
Q1063* |
probably null |
Het |
Zfp799 |
C |
A |
17: 33,041,084 (GRCm39) |
V32L |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,546,386 (GRCm39) |
D874E |
possibly 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 |
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'- ATGAATACACCCGGTGCTG -3'
(R):5'- CTTGAGCAGGACATCCAGTG -3'
Sequencing Primer
(F):5'- TACACCCGGTGCTGCCAATC -3'
(R):5'- ACATCCAGTGTCTCAGGGTC -3'
|
Posted On |
2014-08-25 |