Incidental Mutation 'R6302:Zbtb41'
| ID |
509257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb41
|
| Ensembl Gene |
ENSMUSG00000033964 |
| Gene Name |
zinc finger and BTB domain containing 41 |
| Synonyms |
8430415N23Rik, 9830132G07Rik |
| MMRRC Submission |
044467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R6302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139357027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 427
(N427K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
| AlphaFold |
Q811F1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039867
AA Change: N427K
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: N427K
| 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: N427K
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: N427K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
T |
4: 144,396,760 (GRCm39) |
S324* |
probably null |
Het |
| Actl11 |
T |
G |
9: 107,806,772 (GRCm39) |
V365G |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,317,227 (GRCm39) |
D531V |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,728 (GRCm39) |
S2354P |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,684,221 (GRCm39) |
W514R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,589 (GRCm39) |
V266E |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,167,634 (GRCm39) |
I1345T |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,801,587 (GRCm39) |
M355I |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,554,402 (GRCm39) |
S699P |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,140,872 (GRCm39) |
I3161L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,244,604 (GRCm39) |
T1257A |
probably damaging |
Het |
| Cnnm4 |
C |
T |
1: 36,539,036 (GRCm39) |
T638I |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,646 (GRCm39) |
D1925G |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,936 (GRCm39) |
T86A |
probably damaging |
Het |
| Cyp3a63-ps |
A |
G |
5: 145,564,847 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah14 |
T |
A |
1: 181,428,771 (GRCm39) |
I259N |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,981 (GRCm39) |
D22G |
probably benign |
Het |
| Epn2 |
T |
G |
11: 61,437,312 (GRCm39) |
T87P |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,874,578 (GRCm39) |
L81P |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,323,970 (GRCm39) |
D221E |
probably damaging |
Het |
| Gm8356 |
T |
C |
14: 17,691,275 (GRCm39) |
Y130C |
probably damaging |
Het |
| Gpr151 |
T |
G |
18: 42,712,459 (GRCm39) |
K73T |
probably damaging |
Het |
| Helq |
A |
C |
5: 100,946,305 (GRCm39) |
V12G |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,806 (GRCm39) |
T74A |
probably benign |
Het |
| Kirrel3 |
G |
A |
9: 34,919,045 (GRCm39) |
V234I |
probably damaging |
Het |
| Kxd1 |
T |
A |
8: 70,972,713 (GRCm39) |
|
probably null |
Het |
| Lif |
T |
C |
11: 4,218,924 (GRCm39) |
Y68H |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,314 (GRCm39) |
Q406R |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,830,527 (GRCm39) |
M86L |
probably benign |
Het |
| Mei1 |
T |
A |
15: 81,987,439 (GRCm39) |
Y834* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,320,319 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,777,065 (GRCm39) |
I2319T |
possibly damaging |
Het |
| Myo7b |
T |
G |
18: 32,127,439 (GRCm39) |
D621A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,426,351 (GRCm39) |
D254G |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,024,921 (GRCm39) |
R560G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,464 (GRCm39) |
F265L |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,852,926 (GRCm39) |
L208H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,910 (GRCm39) |
T312S |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,610,097 (GRCm39) |
S390G |
probably damaging |
Het |
| Plcxd3 |
C |
T |
15: 4,546,239 (GRCm39) |
T81M |
probably damaging |
Het |
| Pmf1 |
C |
T |
3: 88,307,017 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
T |
C |
11: 70,825,947 (GRCm39) |
V739A |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,142,451 (GRCm39) |
D313G |
possibly damaging |
Het |
| Rpia |
C |
T |
6: 70,750,485 (GRCm39) |
V216I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
A |
6: 113,712,167 (GRCm39) |
H56L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,817 (GRCm39) |
V1733D |
probably damaging |
Het |
| Sim2 |
G |
A |
16: 93,898,089 (GRCm39) |
A108T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,479 (GRCm39) |
D665G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,383,849 (GRCm39) |
V180E |
probably damaging |
Het |
| Smarcad1 |
T |
G |
6: 65,052,122 (GRCm39) |
N38K |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,709,091 (GRCm39) |
T45A |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,432 (GRCm39) |
S714P |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,158 (GRCm39) |
S108T |
possibly damaging |
Het |
| Tbl3 |
T |
C |
17: 24,923,645 (GRCm39) |
K256E |
probably benign |
Het |
| Tcam1 |
T |
G |
11: 106,177,276 (GRCm39) |
C423G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,592,662 (GRCm39) |
C231R |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,365,397 (GRCm39) |
P337S |
probably damaging |
Het |
| Vmn2r83 |
A |
C |
10: 79,304,837 (GRCm39) |
T16P |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,182,189 (GRCm39) |
F589S |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,961 (GRCm39) |
T410A |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,742,726 (GRCm39) |
T4A |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,122,438 (GRCm39) |
L268P |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,771 (GRCm39) |
T414A |
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 |
|
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'- AAAGCAGAGCAGATACGTTGAACTC -3'
(R):5'- GGACAATCACAGTGCATCTTAAACTTC -3'
Sequencing Primer
(F):5'- GAGCAGATACGTTGAACTCAATTTTC -3'
(R):5'- GCATCTTAAACTTCACATTATCAGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation