Incidental Mutation 'R2402:Zbtb41'
ID |
248720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb41
|
Ensembl Gene |
ENSMUSG00000033964 |
Gene Name |
zinc finger and BTB domain containing 41 |
Synonyms |
8430415N23Rik, 9830132G07Rik |
MMRRC Submission |
040368-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R2402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 139350925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 13
(E13*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
AlphaFold |
Q811F1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039867
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000045570 Gene: ENSMUSG00000033964 AA Change: E13*
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 null
Transcript: ENSMUST00000200243
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000142797 Gene: ENSMUSG00000033964 AA Change: E13*
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: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,632,461 (GRCm39) |
S297P |
probably damaging |
Het |
Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
Rhobtb1 |
G |
A |
10: 69,106,254 (GRCm39) |
G273D |
probably benign |
Het |
Rimbp2 |
T |
C |
5: 128,861,952 (GRCm39) |
D771G |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
Tcf12 |
A |
T |
9: 71,763,792 (GRCm39) |
N397K |
probably damaging |
Het |
Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
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 |
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'- GGTGGAGCTCTTACCTGATTCTC -3'
(R):5'- GACGGTTGCTTCTGCCTATC -3'
Sequencing Primer
(F):5'- CACTCTTTTTGCAGACCATGAAACG -3'
(R):5'- GCCTATCATCGTTCAAATACTTCAG -3'
|
Posted On |
2014-11-11 |