Incidental Mutation 'R2292:Zbtb41'
ID |
245016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb41
|
Ensembl Gene |
ENSMUSG00000033964 |
Gene Name |
zinc finger and BTB domain containing 41 |
Synonyms |
8430415N23Rik, 9830132G07Rik |
MMRRC Submission |
040291-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R2292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139368097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 595
(V595A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045570
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
AlphaFold |
Q811F1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039867
AA Change: V595A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045570 Gene: ENSMUSG00000033964 AA Change: V595A
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
BTB
|
89 |
183 |
7.06e-16 |
SMART |
ZnF_C2H2
|
208 |
231 |
3.78e-1 |
SMART |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
low complexity region
|
301 |
327 |
N/A |
INTRINSIC |
ZnF_C2H2
|
360 |
382 |
4.17e-3 |
SMART |
ZnF_C2H2
|
388 |
410 |
8.34e-3 |
SMART |
ZnF_C2H2
|
421 |
444 |
2.67e-1 |
SMART |
ZnF_C2H2
|
462 |
484 |
1.72e-4 |
SMART |
ZnF_C2H2
|
490 |
513 |
1.41e0 |
SMART |
ZnF_C2H2
|
517 |
540 |
1.12e-3 |
SMART |
ZnF_C2H2
|
546 |
568 |
1.36e-2 |
SMART |
ZnF_C2H2
|
574 |
596 |
2.91e-2 |
SMART |
ZnF_C2H2
|
602 |
624 |
7.37e-4 |
SMART |
ZnF_C2H2
|
630 |
653 |
3.39e-3 |
SMART |
ZnF_C2H2
|
667 |
689 |
2.75e-3 |
SMART |
ZnF_C2H2
|
695 |
717 |
3.16e-3 |
SMART |
ZnF_C2H2
|
723 |
746 |
3.34e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199011
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200243
AA Change: V595A
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142797 Gene: ENSMUSG00000033964 AA Change: V595A
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
BTB
|
89 |
183 |
4.7e-18 |
SMART |
ZnF_C2H2
|
208 |
231 |
1.6e-3 |
SMART |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
low complexity region
|
301 |
327 |
N/A |
INTRINSIC |
ZnF_C2H2
|
360 |
382 |
1.7e-5 |
SMART |
ZnF_C2H2
|
388 |
410 |
3.5e-5 |
SMART |
ZnF_C2H2
|
421 |
444 |
1.1e-3 |
SMART |
ZnF_C2H2
|
462 |
484 |
7.2e-7 |
SMART |
ZnF_C2H2
|
490 |
513 |
5.9e-3 |
SMART |
ZnF_C2H2
|
517 |
540 |
4.7e-6 |
SMART |
ZnF_C2H2
|
546 |
568 |
5.7e-5 |
SMART |
ZnF_C2H2
|
574 |
596 |
1.3e-4 |
SMART |
ZnF_C2H2
|
602 |
624 |
3e-6 |
SMART |
ZnF_C2H2
|
630 |
653 |
1.5e-5 |
SMART |
|
Meta Mutation Damage Score |
0.3606 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
|
Other mutations in Zbtb41 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Zbtb41
|
APN |
1 |
139,358,062 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01796:Zbtb41
|
APN |
1 |
139,370,621 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01844:Zbtb41
|
APN |
1 |
139,375,065 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02150:Zbtb41
|
APN |
1 |
139,368,186 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02346:Zbtb41
|
APN |
1 |
139,374,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03139:Zbtb41
|
APN |
1 |
139,351,576 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03215:Zbtb41
|
APN |
1 |
139,374,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03309:Zbtb41
|
APN |
1 |
139,359,816 (GRCm39) |
critical splice donor site |
probably null |
|
memorialized
|
UTSW |
1 |
139,368,132 (GRCm39) |
missense |
probably benign |
0.00 |
Noted
|
UTSW |
1 |
139,366,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R7584_zbtb41_939
|
UTSW |
1 |
139,351,795 (GRCm39) |
missense |
probably benign |
0.14 |
unforgotten
|
UTSW |
1 |
139,359,816 (GRCm39) |
critical splice donor site |
probably null |
|
R0004:Zbtb41
|
UTSW |
1 |
139,370,626 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0010:Zbtb41
|
UTSW |
1 |
139,351,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Zbtb41
|
UTSW |
1 |
139,351,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Zbtb41
|
UTSW |
1 |
139,369,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0230:Zbtb41
|
UTSW |
1 |
139,374,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Zbtb41
|
UTSW |
1 |
139,366,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R0458:Zbtb41
|
UTSW |
1 |
139,351,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:Zbtb41
|
UTSW |
1 |
139,351,348 (GRCm39) |
missense |
probably benign |
0.28 |
R0964:Zbtb41
|
UTSW |
1 |
139,366,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R1531:Zbtb41
|
UTSW |
1 |
139,350,931 (GRCm39) |
missense |
probably benign |
0.00 |
R1723:Zbtb41
|
UTSW |
1 |
139,351,301 (GRCm39) |
missense |
probably benign |
0.39 |
R1765:Zbtb41
|
UTSW |
1 |
139,368,132 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Zbtb41
|
UTSW |
1 |
139,374,660 (GRCm39) |
nonsense |
probably null |
|
R2077:Zbtb41
|
UTSW |
1 |
139,351,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R2380:Zbtb41
|
UTSW |
1 |
139,351,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R2402:Zbtb41
|
UTSW |
1 |
139,350,925 (GRCm39) |
nonsense |
probably null |
|
R2402:Zbtb41
|
UTSW |
1 |
139,350,923 (GRCm39) |
missense |
probably benign |
0.10 |
R3847:Zbtb41
|
UTSW |
1 |
139,351,734 (GRCm39) |
missense |
probably benign |
|
R3848:Zbtb41
|
UTSW |
1 |
139,351,734 (GRCm39) |
missense |
probably benign |
|
R3849:Zbtb41
|
UTSW |
1 |
139,351,734 (GRCm39) |
missense |
probably benign |
|
R4077:Zbtb41
|
UTSW |
1 |
139,357,064 (GRCm39) |
missense |
probably benign |
0.11 |
R4641:Zbtb41
|
UTSW |
1 |
139,370,557 (GRCm39) |
missense |
probably damaging |
0.98 |
R4772:Zbtb41
|
UTSW |
1 |
139,375,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5646:Zbtb41
|
UTSW |
1 |
139,351,501 (GRCm39) |
missense |
probably benign |
0.05 |
R5754:Zbtb41
|
UTSW |
1 |
139,359,816 (GRCm39) |
critical splice donor site |
probably null |
|
R6002:Zbtb41
|
UTSW |
1 |
139,351,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R6045:Zbtb41
|
UTSW |
1 |
139,351,770 (GRCm39) |
missense |
probably benign |
0.34 |
R6302:Zbtb41
|
UTSW |
1 |
139,357,027 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6318:Zbtb41
|
UTSW |
1 |
139,358,044 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6430:Zbtb41
|
UTSW |
1 |
139,374,945 (GRCm39) |
missense |
probably benign |
0.02 |
R6906:Zbtb41
|
UTSW |
1 |
139,351,128 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7584:Zbtb41
|
UTSW |
1 |
139,351,795 (GRCm39) |
missense |
probably benign |
0.14 |
R7753:Zbtb41
|
UTSW |
1 |
139,374,895 (GRCm39) |
missense |
probably benign |
|
R8132:Zbtb41
|
UTSW |
1 |
139,350,955 (GRCm39) |
missense |
probably benign |
0.00 |
R8138:Zbtb41
|
UTSW |
1 |
139,369,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R8205:Zbtb41
|
UTSW |
1 |
139,356,919 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8823:Zbtb41
|
UTSW |
1 |
139,350,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R8967:Zbtb41
|
UTSW |
1 |
139,370,587 (GRCm39) |
missense |
probably benign |
|
R9431:Zbtb41
|
UTSW |
1 |
139,350,781 (GRCm39) |
start gained |
probably benign |
|
R9500:Zbtb41
|
UTSW |
1 |
139,359,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9559:Zbtb41
|
UTSW |
1 |
139,358,053 (GRCm39) |
missense |
probably benign |
0.14 |
R9603:Zbtb41
|
UTSW |
1 |
139,375,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9789:Zbtb41
|
UTSW |
1 |
139,368,084 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zbtb41
|
UTSW |
1 |
139,351,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTCAGAAAGGTGAATAGAAACCCTG -3'
(R):5'- CAAACATTATGAAGGGGTGATCAAC -3'
Sequencing Primer
(F):5'- GGTGAATAGAAACCCTGAGATCTTTG -3'
(R):5'- GGGTGATCAACAAATGTCAAACTAC -3'
|
Posted On |
2014-10-30 |