Incidental Mutation 'R8967:Zbtb41'
| ID |
682775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb41
|
| Ensembl Gene |
ENSMUSG00000033964 |
| Gene Name |
zinc finger and BTB domain containing 41 |
| Synonyms |
8430415N23Rik, 9830132G07Rik |
| MMRRC Submission |
068801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139370587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 675
(I675V)
|
| 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: I675V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: I675V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,242,696 (GRCm39) |
S1520P |
probably benign |
Het |
| Abhd12 |
A |
G |
2: 150,679,351 (GRCm39) |
Y291H |
probably damaging |
Het |
| Abr |
C |
A |
11: 76,369,855 (GRCm39) |
S178I |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,378,882 (GRCm39) |
I422K |
possibly damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,677,662 (GRCm39) |
T185S |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,286,341 (GRCm39) |
Y228N |
probably damaging |
Het |
| B4gat1 |
T |
C |
19: 5,089,678 (GRCm39) |
V225A |
probably damaging |
Het |
| Brf1 |
G |
A |
12: 112,937,239 (GRCm39) |
P183S |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,163,297 (GRCm39) |
N312S |
possibly damaging |
Het |
| Cep135 |
T |
C |
5: 76,751,165 (GRCm39) |
L337P |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,265 (GRCm39) |
C334* |
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,661,564 (GRCm39) |
Y408N |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,014,577 (GRCm39) |
Y287H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,682,594 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,015,938 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
A |
3: 145,761,395 (GRCm39) |
N654Y |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,078,862 (GRCm39) |
Y526N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,199,132 (GRCm39) |
V218E |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,790,738 (GRCm39) |
|
probably null |
Het |
| Hsd17b7 |
A |
T |
1: 169,796,685 (GRCm39) |
L6* |
probably null |
Het |
| Irgc |
T |
A |
7: 24,132,737 (GRCm39) |
T27S |
probably benign |
Het |
| Lama3 |
A |
C |
18: 12,665,096 (GRCm39) |
I671L |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,806 (GRCm39) |
L308P |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp1 |
G |
A |
2: 127,582,897 (GRCm39) |
P672L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,896,907 (GRCm39) |
H905Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,740 (GRCm39) |
V2102A |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,039 (GRCm39) |
T39A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,066 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,073 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,844 (GRCm39) |
Y32* |
probably null |
Het |
| Or6z7 |
A |
G |
7: 6,484,011 (GRCm39) |
L48P |
possibly damaging |
Het |
| Pank4 |
C |
G |
4: 155,055,415 (GRCm39) |
H262D |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,756,063 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,324 (GRCm39) |
T286M |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,434,744 (GRCm39) |
D79V |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,056,854 (GRCm39) |
T682A |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,785,084 (GRCm39) |
R974Q |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,020,419 (GRCm39) |
F230L |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,729,701 (GRCm39) |
L850* |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,338,564 (GRCm39) |
V282L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,765,739 (GRCm39) |
S1895P |
unknown |
Het |
| Tango2 |
A |
G |
16: 18,165,763 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tmem64 |
T |
A |
4: 15,266,575 (GRCm39) |
F208L |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,694,023 (GRCm39) |
V191E |
probably damaging |
Het |
| Zfp180 |
T |
C |
7: 23,804,726 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfp932 |
A |
G |
5: 110,156,883 (GRCm39) |
S194G |
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 |
|
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 |
|
|
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 |
|
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'- AAAGTTGGGTTAAGGCCTTTTGAAG -3'
(R):5'- AGAGCCAAAACACTGCTTATTCATG -3'
Sequencing Primer
(F):5'- AGCAGCTGTGGATTTAAAAGTACTGC -3'
(R):5'- GATCAGCATCAAGTACCCTTA -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation