Incidental Mutation 'R8132:Zbtb41'
ID |
632050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb41
|
Ensembl Gene |
ENSMUSG00000033964 |
Gene Name |
zinc finger and BTB domain containing 41 |
Synonyms |
8430415N23Rik, 9830132G07Rik |
MMRRC Submission |
067895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R8132 (G1)
|
Quality Score |
214.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139350955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 23
(S23P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045570
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
AlphaFold |
Q811F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039867
AA Change: S23P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000045570 Gene: ENSMUSG00000033964 AA Change: S23P
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: S23P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000142797 Gene: ENSMUSG00000033964 AA Change: S23P
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
Abhd16b |
G |
A |
2: 181,135,760 (GRCm39) |
A221T |
probably damaging |
Het |
Arhgef1 |
C |
T |
7: 24,607,087 (GRCm39) |
|
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,619,174 (GRCm39) |
Q472* |
probably null |
Het |
Calr3 |
C |
T |
8: 73,181,023 (GRCm39) |
G298S |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,133,718 (GRCm39) |
T15A |
unknown |
Het |
CK137956 |
T |
A |
4: 127,845,075 (GRCm39) |
K223* |
probably null |
Het |
Clca3b |
A |
T |
3: 144,552,935 (GRCm39) |
S97T |
probably benign |
Het |
Cops7b |
G |
T |
1: 86,514,916 (GRCm39) |
G102V |
probably damaging |
Het |
Dennd1a |
T |
A |
2: 37,748,072 (GRCm39) |
S382C |
probably damaging |
Het |
Fdps |
G |
A |
3: 89,006,693 (GRCm39) |
Q66* |
probably null |
Het |
Gemin4 |
T |
C |
11: 76,103,739 (GRCm39) |
T341A |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,109,355 (GRCm39) |
S201P |
unknown |
Het |
Hgf |
C |
T |
5: 16,807,329 (GRCm39) |
T407I |
probably damaging |
Het |
Hip1r |
C |
T |
5: 124,135,290 (GRCm39) |
R446C |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,740,827 (GRCm39) |
I327L |
possibly damaging |
Het |
Ifna15 |
T |
C |
4: 88,475,920 (GRCm39) |
E188G |
possibly damaging |
Het |
Igip |
A |
G |
18: 36,434,266 (GRCm39) |
S11G |
probably benign |
Het |
Igkv5-39 |
A |
G |
6: 69,877,589 (GRCm39) |
Y56H |
probably damaging |
Het |
Jph1 |
G |
A |
1: 17,086,379 (GRCm39) |
T381I |
probably damaging |
Het |
Lrrc55 |
T |
C |
2: 85,022,259 (GRCm39) |
I311V |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,949,661 (GRCm39) |
D58E |
probably benign |
Het |
Ms4a4d |
C |
A |
19: 11,535,310 (GRCm39) |
P203T |
probably benign |
Het |
Naip1 |
T |
G |
13: 100,573,883 (GRCm39) |
E225D |
possibly damaging |
Het |
Ncapg2 |
T |
A |
12: 116,407,967 (GRCm39) |
I989N |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,647,036 (GRCm39) |
Y166* |
probably null |
Het |
Nphs1 |
A |
G |
7: 30,181,478 (GRCm39) |
E1169G |
probably benign |
Het |
Nudt15 |
G |
A |
14: 73,759,099 (GRCm39) |
P123L |
probably benign |
Het |
Or10c1 |
T |
A |
17: 37,522,207 (GRCm39) |
E179V |
probably damaging |
Het |
Or10q1b |
G |
A |
19: 13,682,584 (GRCm39) |
C131Y |
probably damaging |
Het |
Or5ac22 |
T |
C |
16: 59,134,907 (GRCm39) |
I288V |
possibly damaging |
Het |
Or6k14 |
T |
A |
1: 173,927,737 (GRCm39) |
S238T |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,369 (GRCm39) |
V69M |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,093,694 (GRCm39) |
S68P |
possibly damaging |
Het |
Plec |
G |
T |
15: 76,074,773 (GRCm39) |
A330E |
unknown |
Het |
Rpa3 |
A |
C |
6: 8,256,790 (GRCm39) |
I63S |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snap25 |
A |
T |
2: 136,611,748 (GRCm39) |
K83N |
probably benign |
Het |
Sos1 |
T |
G |
17: 80,716,031 (GRCm39) |
Q977P |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,420,461 (GRCm39) |
Y483C |
probably damaging |
Het |
Speg |
A |
G |
1: 75,399,639 (GRCm39) |
E2362G |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,855,084 (GRCm39) |
D128G |
probably damaging |
Het |
Syngap1 |
G |
A |
17: 27,177,154 (GRCm39) |
M545I |
probably damaging |
Het |
Tdpoz6 |
G |
A |
3: 93,599,452 (GRCm39) |
Q306* |
probably null |
Het |
Tmem147 |
T |
C |
7: 30,427,872 (GRCm39) |
E110G |
probably damaging |
Het |
Tmem156 |
T |
A |
5: 65,233,098 (GRCm39) |
I155F |
probably benign |
Het |
Trim25 |
C |
A |
11: 88,907,432 (GRCm39) |
A597E |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,413,131 (GRCm39) |
Y229C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,558,154 (GRCm39) |
Q1435L |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,879,142 (GRCm39) |
I1075F |
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 |
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 |
139,350,923 (GRCm39) |
missense |
probably benign |
0.10 |
R2402:Zbtb41
|
UTSW |
1 |
139,350,925 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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'- GTGGAGCTCTTACCTGATTCTC -3'
(R):5'- GAAAGACGGTTGCTTCTGCC -3'
Sequencing Primer
(F):5'- CTCTTTTTGCAGACCATGAAACGG -3'
(R):5'- GCCTATCATCGTTCAAATACTTCAG -3'
|
Posted On |
2020-06-30 |