Incidental Mutation 'R5891:Baz2a'
ID |
457201 |
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 |
044092-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127957191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 978
(I978N)
|
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: I978N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054 AA Change: I978N
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: I979N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054 AA Change: I979N
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: I981N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218772
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219980
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: I978N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2651 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
96% (85/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
T |
16: 56,426,496 (GRCm39) |
T504S |
probably damaging |
Het |
Adamtsl4 |
C |
A |
3: 95,589,623 (GRCm39) |
R387L |
possibly damaging |
Het |
Adgb |
G |
A |
10: 10,253,591 (GRCm39) |
Q1224* |
probably null |
Het |
Ankrd40 |
T |
A |
11: 94,225,689 (GRCm39) |
F240Y |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,387,136 (GRCm39) |
Y164N |
probably benign |
Het |
Atf7ip |
A |
T |
6: 136,536,975 (GRCm39) |
E69D |
possibly damaging |
Het |
Atm |
T |
C |
9: 53,408,459 (GRCm39) |
T1129A |
probably benign |
Het |
Atosa |
C |
G |
9: 74,911,668 (GRCm39) |
C46W |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,029,995 (GRCm39) |
D340G |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,108,793 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,116,204 (GRCm39) |
L830P |
probably damaging |
Het |
Bicral |
T |
C |
17: 47,112,155 (GRCm39) |
N1015S |
probably benign |
Het |
Ccdc9b |
T |
A |
2: 118,591,864 (GRCm39) |
D92V |
probably damaging |
Het |
Ceacam3 |
C |
A |
7: 16,885,718 (GRCm39) |
T107N |
probably damaging |
Het |
Cep83 |
T |
C |
10: 94,561,537 (GRCm39) |
V109A |
probably benign |
Het |
Ces1e |
A |
G |
8: 93,929,894 (GRCm39) |
V463A |
possibly damaging |
Het |
Ciao1 |
A |
G |
2: 127,089,054 (GRCm39) |
V55A |
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,328,806 (GRCm39) |
E900G |
probably damaging |
Het |
Commd3 |
A |
G |
2: 18,678,626 (GRCm39) |
|
probably benign |
Het |
Coro1c |
A |
G |
5: 113,988,872 (GRCm39) |
I157T |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,218,073 (GRCm39) |
I828V |
probably benign |
Het |
Ctso |
T |
A |
3: 81,861,561 (GRCm39) |
F311L |
probably benign |
Het |
Cxcl10 |
A |
G |
5: 92,496,083 (GRCm39) |
|
probably benign |
Het |
Daam1 |
C |
A |
12: 71,990,923 (GRCm39) |
T179N |
unknown |
Het |
Ddx24 |
T |
C |
12: 103,390,317 (GRCm39) |
K225E |
probably damaging |
Het |
Dnajc16 |
T |
C |
4: 141,502,703 (GRCm39) |
T278A |
probably benign |
Het |
Dnajc2 |
A |
T |
5: 21,966,709 (GRCm39) |
N345K |
possibly damaging |
Het |
Dnpep |
G |
T |
1: 75,288,456 (GRCm39) |
Q395K |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,580,654 (GRCm39) |
|
probably null |
Het |
Exoc1 |
A |
G |
5: 76,689,991 (GRCm39) |
D177G |
probably damaging |
Het |
Fam135b |
C |
T |
15: 71,397,652 (GRCm39) |
R136H |
probably damaging |
Het |
Filip1 |
T |
G |
9: 79,727,142 (GRCm39) |
L492F |
possibly damaging |
Het |
Flvcr2 |
A |
T |
12: 85,843,002 (GRCm39) |
I359F |
possibly damaging |
Het |
Gmcl1 |
A |
G |
6: 86,684,425 (GRCm39) |
W366R |
probably damaging |
Het |
Htt |
A |
G |
5: 35,028,167 (GRCm39) |
T1808A |
possibly damaging |
Het |
Ighv5-4 |
C |
A |
12: 113,561,249 (GRCm39) |
R57L |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,337,674 (GRCm39) |
I69N |
probably damaging |
Het |
Irf5 |
A |
T |
6: 29,529,424 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
G |
14: 65,025,854 (GRCm39) |
|
probably null |
Het |
Klkb1 |
T |
A |
8: 45,723,703 (GRCm39) |
T571S |
probably benign |
Het |
Mapkbp1 |
G |
T |
2: 119,854,413 (GRCm39) |
E1337* |
probably null |
Het |
Met |
A |
G |
6: 17,491,538 (GRCm39) |
D100G |
probably benign |
Het |
Mgam |
T |
A |
6: 40,721,282 (GRCm39) |
D183E |
probably benign |
Het |
Mrgprb13 |
T |
C |
7: 47,962,007 (GRCm39) |
|
noncoding transcript |
Het |
Mrgprx2 |
T |
C |
7: 48,131,994 (GRCm39) |
T275A |
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,169,337 (GRCm39) |
Q671K |
possibly damaging |
Het |
Nckipsd |
T |
A |
9: 108,685,808 (GRCm39) |
S42R |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,267,933 (GRCm39) |
|
probably benign |
Het |
Or12j2 |
C |
T |
7: 139,916,513 (GRCm39) |
T246I |
probably benign |
Het |
Or12k8 |
T |
A |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,778 (GRCm39) |
L214M |
probably damaging |
Het |
Or5p5 |
C |
T |
7: 107,414,387 (GRCm39) |
P199S |
probably damaging |
Het |
Otoa |
T |
A |
7: 120,731,583 (GRCm39) |
|
probably null |
Het |
Pfkm |
T |
A |
15: 98,020,571 (GRCm39) |
C233* |
probably null |
Het |
Pikfyve |
A |
G |
1: 65,241,896 (GRCm39) |
Y212C |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,412,756 (GRCm39) |
D1781V |
possibly damaging |
Het |
Pttg1ip |
A |
G |
10: 77,418,274 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
A |
7: 100,288,454 (GRCm39) |
|
probably null |
Het |
Rbm11 |
C |
T |
16: 75,395,725 (GRCm39) |
A132V |
possibly damaging |
Het |
Septin4 |
G |
T |
11: 87,479,750 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,533,575 (GRCm39) |
E210G |
probably damaging |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,060,626 (GRCm39) |
F32L |
probably benign |
Het |
Smad2 |
A |
G |
18: 76,433,046 (GRCm39) |
E326G |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,104,595 (GRCm39) |
L383Q |
probably damaging |
Het |
Stx11 |
T |
C |
10: 12,817,559 (GRCm39) |
N55S |
probably damaging |
Het |
Tbc1d15 |
T |
A |
10: 115,056,213 (GRCm39) |
Q253L |
probably benign |
Het |
Tcf7l1 |
T |
A |
6: 72,614,034 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
T |
A |
12: 112,009,153 (GRCm39) |
S1020T |
probably damaging |
Het |
Tead3 |
A |
T |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,800,926 (GRCm39) |
S11P |
probably damaging |
Homo |
Trpc3 |
G |
T |
3: 36,725,171 (GRCm39) |
D268E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,576,085 (GRCm39) |
V23190A |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,135,937 (GRCm39) |
Y908* |
probably null |
Het |
Urb2 |
G |
T |
8: 124,757,595 (GRCm39) |
V1101L |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,341,535 (GRCm39) |
D1375E |
probably benign |
Het |
Zcchc7 |
T |
C |
4: 44,895,838 (GRCm39) |
L262P |
probably damaging |
Het |
Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,900,877 (GRCm39) |
C269S |
probably damaging |
Het |
Zfp933 |
T |
C |
4: 147,911,231 (GRCm39) |
K90E |
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 |
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'- CAGTCCCTGAAGATATTGGGG -3'
(R):5'- GAGCTGTAGGGATGGATCTCAG -3'
Sequencing Primer
(F):5'- GATGTCAGAGATCCCATTGACCAG -3'
(R):5'- GGGATGGATCTCAGTCTAGTTCAAAC -3'
|
Posted On |
2017-02-15 |