Incidental Mutation 'IGL02346:Zbtb41'
| ID |
289274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb41
|
| Ensembl Gene |
ENSMUSG00000033964 |
| Gene Name |
zinc finger and BTB domain containing 41 |
| Synonyms |
8430415N23Rik, 9830132G07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL02346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139374838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 766
(P766Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
|
| AlphaFold |
Q811F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039867
AA Change: P766Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: P766Q
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,376,760 (GRCm39) |
I1948F |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,750,919 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,601,271 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,257,875 (GRCm39) |
F125I |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,884,762 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
T |
A |
16: 29,146,554 (GRCm39) |
K247* |
probably null |
Het |
| Col9a1 |
C |
T |
1: 24,262,690 (GRCm39) |
A585V |
probably damaging |
Het |
| Eef1akmt3 |
A |
G |
10: 126,868,805 (GRCm39) |
V223A |
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,503,700 (GRCm39) |
S766P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,595,158 (GRCm39) |
A402E |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,519,951 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,369 (GRCm39) |
E1859G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,898,278 (GRCm39) |
V786G |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,889 (GRCm39) |
S724G |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,373,377 (GRCm39) |
Y634C |
probably damaging |
Het |
| Hoxa3 |
T |
A |
6: 52,147,579 (GRCm39) |
|
probably benign |
Het |
| Id4 |
C |
A |
13: 48,415,189 (GRCm39) |
Y72* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,619 (GRCm39) |
E71D |
probably benign |
Het |
| Kcnh4 |
G |
A |
11: 100,647,768 (GRCm39) |
T168M |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,291 (GRCm39) |
I1699L |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,992,836 (GRCm39) |
Y1048H |
probably damaging |
Het |
| Mix23 |
T |
C |
16: 35,912,205 (GRCm39) |
V87A |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,527 (GRCm39) |
V246L |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,153 (GRCm39) |
I560N |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,016 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,065 (GRCm39) |
I289V |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,055,939 (GRCm39) |
L181P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,552 (GRCm39) |
|
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,221,639 (GRCm39) |
F184L |
possibly damaging |
Het |
| Prpf39 |
C |
T |
12: 65,104,510 (GRCm39) |
T525I |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,047,782 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
G |
17: 32,618,323 (GRCm39) |
W161R |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,470,125 (GRCm39) |
V329D |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,514 (GRCm39) |
M1L |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,667,788 (GRCm39) |
D770N |
probably damaging |
Het |
| Tdp2 |
T |
C |
13: 25,025,335 (GRCm39) |
V368A |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,218,751 (GRCm39) |
S59P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,501 (GRCm39) |
V54A |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,990,850 (GRCm39) |
N837I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,998,407 (GRCm39) |
E1118V |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,438,858 (GRCm39) |
H308R |
probably benign |
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 |
|
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 |
|
R2292:Zbtb41
|
UTSW |
1 |
139,368,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation