Incidental Mutation 'IGL01341:Zbtb11'
ID |
74854 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb11
|
Ensembl Gene |
ENSMUSG00000022601 |
Gene Name |
zinc finger and BTB domain containing 11 |
Synonyms |
9230110G02Rik, ZNF-U69274 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
IGL01341
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 55811294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 484
(L484R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
|
AlphaFold |
G5E8B9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050248
AA Change: L484R
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000056923 Gene: ENSMUSG00000022601 AA Change: L484R
Domain | Start | End | E-Value | Type |
low complexity region
|
136 |
158 |
N/A |
INTRINSIC |
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
BTB
|
214 |
312 |
4.77e-13 |
SMART |
low complexity region
|
371 |
399 |
N/A |
INTRINSIC |
ZnF_C2H2
|
566 |
588 |
1.1e-2 |
SMART |
ZnF_C2H2
|
594 |
616 |
2.09e-3 |
SMART |
low complexity region
|
623 |
640 |
N/A |
INTRINSIC |
ZnF_C2H2
|
648 |
670 |
4.47e-3 |
SMART |
ZnF_C2H2
|
676 |
698 |
8.22e-2 |
SMART |
ZnF_C2H2
|
704 |
726 |
2.27e-4 |
SMART |
ZnF_C2H2
|
732 |
754 |
1.28e-3 |
SMART |
ZnF_C2H2
|
763 |
785 |
2.95e-3 |
SMART |
ZnF_C2H2
|
791 |
813 |
7.67e-2 |
SMART |
ZnF_C2H2
|
819 |
843 |
2.95e-3 |
SMART |
ZnF_C2H2
|
855 |
877 |
1.67e-2 |
SMART |
ZnF_C2H2
|
883 |
905 |
3.02e0 |
SMART |
ZnF_C2H2
|
911 |
934 |
9.58e-3 |
SMART |
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183440
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
Het |
|
Other mutations in Zbtb11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Zbtb11
|
APN |
16 |
55,820,965 (GRCm39) |
nonsense |
probably null |
|
IGL01107:Zbtb11
|
APN |
16 |
55,826,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01510:Zbtb11
|
APN |
16 |
55,810,706 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01611:Zbtb11
|
APN |
16 |
55,800,973 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01736:Zbtb11
|
APN |
16 |
55,818,523 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01834:Zbtb11
|
APN |
16 |
55,811,371 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02427:Zbtb11
|
APN |
16 |
55,802,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02441:Zbtb11
|
APN |
16 |
55,794,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02455:Zbtb11
|
APN |
16 |
55,821,038 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4544001:Zbtb11
|
UTSW |
16 |
55,818,556 (GRCm39) |
nonsense |
probably null |
|
R0987:Zbtb11
|
UTSW |
16 |
55,811,071 (GRCm39) |
missense |
probably benign |
0.00 |
R1414:Zbtb11
|
UTSW |
16 |
55,810,923 (GRCm39) |
nonsense |
probably null |
|
R1437:Zbtb11
|
UTSW |
16 |
55,811,983 (GRCm39) |
critical splice donor site |
probably null |
|
R1570:Zbtb11
|
UTSW |
16 |
55,811,178 (GRCm39) |
missense |
probably benign |
|
R1658:Zbtb11
|
UTSW |
16 |
55,794,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1735:Zbtb11
|
UTSW |
16 |
55,811,045 (GRCm39) |
missense |
probably benign |
|
R2048:Zbtb11
|
UTSW |
16 |
55,818,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R2925:Zbtb11
|
UTSW |
16 |
55,794,447 (GRCm39) |
missense |
probably benign |
0.00 |
R4072:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4075:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4076:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5023:Zbtb11
|
UTSW |
16 |
55,826,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R5755:Zbtb11
|
UTSW |
16 |
55,821,076 (GRCm39) |
missense |
probably benign |
0.02 |
R5757:Zbtb11
|
UTSW |
16 |
55,827,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Zbtb11
|
UTSW |
16 |
55,818,436 (GRCm39) |
missense |
probably benign |
0.00 |
R6313:Zbtb11
|
UTSW |
16 |
55,810,854 (GRCm39) |
missense |
probably benign |
0.03 |
R6461:Zbtb11
|
UTSW |
16 |
55,827,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R6666:Zbtb11
|
UTSW |
16 |
55,826,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Zbtb11
|
UTSW |
16 |
55,810,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7194:Zbtb11
|
UTSW |
16 |
55,827,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Zbtb11
|
UTSW |
16 |
55,810,850 (GRCm39) |
missense |
probably benign |
0.01 |
R8022:Zbtb11
|
UTSW |
16 |
55,826,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R8436:Zbtb11
|
UTSW |
16 |
55,821,022 (GRCm39) |
nonsense |
probably null |
|
R8532:Zbtb11
|
UTSW |
16 |
55,811,252 (GRCm39) |
missense |
probably benign |
0.03 |
R8806:Zbtb11
|
UTSW |
16 |
55,802,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Zbtb11
|
UTSW |
16 |
55,818,492 (GRCm39) |
missense |
probably benign |
|
R9673:Zbtb11
|
UTSW |
16 |
55,827,336 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Zbtb11
|
UTSW |
16 |
55,800,960 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Zbtb11
|
UTSW |
16 |
55,811,865 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-10-07 |