Incidental Mutation 'R7179:Baz2a'
| ID |
558851 |
| 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 |
045269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127960326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1514
(R1514W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000220049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045621
AA Change: R1511W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: R1511W
| 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 damaging
Transcript: ENSMUST00000170054
AA Change: R1512W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: R1512W
| 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 damaging
Transcript: ENSMUST00000217851
AA Change: R1514W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220049
AA Change: R1511W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5508 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
A |
T |
13: 25,002,154 (GRCm39) |
I96K |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,509,291 (GRCm39) |
T555A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,598,351 (GRCm39) |
P1059L |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,409,843 (GRCm39) |
T368A |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,475,015 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,622 (GRCm39) |
D348E |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,230,913 (GRCm39) |
S295G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,204,052 (GRCm39) |
C1328R |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,153,517 (GRCm39) |
Y93N |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,089 (GRCm39) |
V147D |
probably damaging |
Het |
| Cd24a |
G |
A |
10: 43,458,636 (GRCm39) |
G36S |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,077,324 (GRCm39) |
Y569C |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,125,168 (GRCm39) |
I884N |
probably damaging |
Het |
| Cnst |
A |
T |
1: 179,406,947 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,323,768 (GRCm39) |
R321L |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,683,510 (GRCm39) |
Y504H |
possibly damaging |
Het |
| D3Ertd751e |
C |
A |
3: 41,703,143 (GRCm39) |
Q73K |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,332 (GRCm39) |
|
probably null |
Het |
| Eya1 |
A |
T |
1: 14,373,076 (GRCm39) |
S14R |
probably damaging |
Het |
| Fam131c |
A |
T |
4: 141,110,328 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
T |
C |
12: 85,793,965 (GRCm39) |
F114L |
possibly damaging |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galnt5 |
A |
C |
2: 57,888,621 (GRCm39) |
M74L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,218 (GRCm39) |
R142C |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,288 (GRCm39) |
P675S |
probably benign |
Het |
| Gm9508 |
G |
T |
10: 77,532,470 (GRCm39) |
Q200K |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,544,576 (GRCm39) |
S1390N |
probably benign |
Het |
| Hdac5 |
G |
T |
11: 102,095,385 (GRCm39) |
T430K |
possibly damaging |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Khnyn |
C |
T |
14: 56,131,811 (GRCm39) |
P578S |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,602,856 (GRCm39) |
T215S |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,768 (GRCm39) |
V686I |
probably benign |
Het |
| Mapkap1 |
T |
A |
2: 34,408,712 (GRCm39) |
H233Q |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,885,081 (GRCm39) |
I201T |
probably damaging |
Het |
| Metrnl |
G |
A |
11: 121,606,734 (GRCm39) |
R263Q |
probably damaging |
Het |
| Mettl22 |
A |
G |
16: 8,295,924 (GRCm39) |
E71G |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,553,304 (GRCm39) |
T4330A |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,379 (GRCm39) |
T387A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,135,550 (GRCm39) |
D379G |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,132,847 (GRCm39) |
K478E |
unknown |
Het |
| Or14a256 |
A |
T |
7: 86,265,574 (GRCm39) |
L93Q |
possibly damaging |
Het |
| Or51d1 |
A |
G |
7: 102,347,477 (GRCm39) |
T11A |
probably benign |
Het |
| Or5k1 |
T |
A |
16: 58,617,250 (GRCm39) |
I320F |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,941,662 (GRCm39) |
V62I |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,163,018 (GRCm39) |
N246S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,851,845 (GRCm39) |
Y39C |
probably damaging |
Het |
| Prl3b1 |
G |
T |
13: 27,427,827 (GRCm39) |
V46L |
probably benign |
Het |
| Prss54 |
A |
T |
8: 96,292,199 (GRCm39) |
S127T |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,611,391 (GRCm39) |
T912M |
probably damaging |
Het |
| Rrp12 |
T |
A |
19: 41,872,217 (GRCm39) |
T420S |
probably benign |
Het |
| Rspo1 |
A |
G |
4: 124,898,831 (GRCm39) |
N51D |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,035 (GRCm39) |
R253G |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,657,167 (GRCm39) |
R571C |
unknown |
Het |
| Scn2a |
A |
T |
2: 65,532,323 (GRCm39) |
H645L |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,782,595 (GRCm39) |
S1132P |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,290 (GRCm39) |
K298R |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,573 (GRCm39) |
N230K |
probably benign |
Het |
| Slc27a4 |
T |
G |
2: 29,705,664 (GRCm39) |
Y617* |
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,269 (GRCm39) |
S310P |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,980,258 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
T |
2: 121,932,270 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
A |
G |
13: 41,283,258 (GRCm39) |
T165A |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,615,571 (GRCm39) |
C189R |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,984,882 (GRCm39) |
L184Q |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,281,815 (GRCm39) |
P111L |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,603,197 (GRCm39) |
L445Q |
possibly damaging |
Het |
| Usp53 |
A |
G |
3: 122,743,359 (GRCm39) |
S526P |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,248,791 (GRCm39) |
W447G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,177 (GRCm39) |
H806L |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,651 (GRCm39) |
H410Q |
unknown |
Het |
| Zfp688 |
A |
G |
7: 127,018,484 (GRCm39) |
C214R |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,174 (GRCm39) |
D143G |
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 |
|
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 |
|
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'- CTGACCTAGAGAAGCTGCCATC -3'
(R):5'- AGACACCAAGGCTTGTCCTG -3'
Sequencing Primer
(F):5'- GAGAAGCTGCCATCATTTATAGACC -3'
(R):5'- ACGTCATGGGGTTCACAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation