Incidental Mutation 'R2921:Baz2a'
ID |
255538 |
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 |
040506-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2921 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127927453-127965172 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AGCGGCGGTACTTGCGGG to AG
at 127960946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000220049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000045621
|
SMART Domains |
Protein: ENSMUSP00000044359 Gene: ENSMUSG00000040054
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 null
Transcript: ENSMUST00000170054
|
SMART Domains |
Protein: ENSMUSP00000129803 Gene: ENSMUSG00000040054
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 null
Transcript: ENSMUST00000217851
|
Predicted Effect |
probably null
Transcript: ENSMUST00000220049
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Adipor1 |
T |
C |
1: 134,353,731 (GRCm39) |
V172A |
possibly damaging |
Het |
Akt2 |
A |
G |
7: 27,328,411 (GRCm39) |
K146R |
probably benign |
Het |
Atg4a |
T |
C |
X: 139,941,768 (GRCm39) |
V284A |
possibly damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dpm3 |
C |
T |
3: 89,174,062 (GRCm39) |
L8F |
probably damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 8,023,707 (GRCm39) |
S83P |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
Gm57858 |
T |
C |
3: 36,080,077 (GRCm39) |
M227V |
probably null |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
Mlkl |
T |
C |
8: 112,043,079 (GRCm39) |
E356G |
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
Nr1h4 |
A |
T |
10: 89,334,223 (GRCm39) |
Y42N |
probably damaging |
Het |
Nup155 |
A |
C |
15: 8,183,125 (GRCm39) |
E1228D |
probably damaging |
Het |
Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,626,885 (GRCm39) |
N1218D |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,033,082 (GRCm39) |
I449N |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rfx7 |
G |
A |
9: 72,524,946 (GRCm39) |
G712D |
possibly damaging |
Het |
Rnf151 |
C |
T |
17: 24,935,235 (GRCm39) |
G232D |
possibly damaging |
Het |
Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Safb2 |
A |
G |
17: 56,875,906 (GRCm39) |
V89A |
possibly damaging |
Het |
Setx |
TGTGG |
TG |
2: 29,044,072 (GRCm39) |
|
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
Slc26a2 |
T |
A |
18: 61,335,007 (GRCm39) |
I149F |
probably damaging |
Het |
Slc6a15 |
A |
G |
10: 103,254,248 (GRCm39) |
D728G |
probably damaging |
Het |
Slfn3 |
A |
G |
11: 83,105,871 (GRCm39) |
M623V |
probably benign |
Het |
Smim1 |
A |
G |
4: 154,108,097 (GRCm39) |
|
probably benign |
Het |
Spatc1 |
T |
C |
15: 76,168,125 (GRCm39) |
S195P |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Trpc6 |
A |
T |
9: 8,653,034 (GRCm39) |
L613F |
possibly damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
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 |
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'- TCATGACATGCAGTGTTTCCC -3'
(R):5'- GTGATTCATGTGAGGAATACGC -3'
Sequencing Primer
(F):5'- GACATGCAGTGTTTCCCTTTACAATG -3'
(R):5'- AGGAATACGCTTTTGTCTTGCC -3'
|
Posted On |
2014-12-29 |