Incidental Mutation 'R8205:Zbtb41'
| ID |
635847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb41
|
| Ensembl Gene |
ENSMUSG00000033964 |
| Gene Name |
zinc finger and BTB domain containing 41 |
| Synonyms |
8430415N23Rik, 9830132G07Rik |
| MMRRC Submission |
067628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8205 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139356919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 391
(D391E)
|
| 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: D391E
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: D391E
| 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 |
possibly damaging
Transcript: ENSMUST00000200243
AA Change: D391E
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: D391E
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
| Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,192,175 (GRCm39) |
T114A |
possibly damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
| Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,664,047 (GRCm39) |
D617G |
probably benign |
Het |
| Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
| Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
| Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
| Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
| Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
| Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
| Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
| Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,714 (GRCm39) |
S435P |
probably damaging |
Het |
| Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
| Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
| Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
| Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
| Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
| Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
| Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
| Trim2 |
C |
A |
3: 84,100,646 (GRCm39) |
A162S |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,071 (GRCm39) |
T418S |
probably benign |
Het |
| Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
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 |
|
|
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 |
|
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'- CTCAAAGTGCTGGGTCTTTGAG -3'
(R):5'- GTTACTTGTGTGACGCCAGGAG -3'
Sequencing Primer
(F):5'- CTCTTTAGTTCCCTATGTGAATTTGG -3'
(R):5'- TGACGCCAGGAGCAGGATAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation