Incidental Mutation 'IGL03139:Zbtb41'
| ID |
410635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb41
|
| Ensembl Gene |
ENSMUSG00000033964 |
| Gene Name |
zinc finger and BTB domain containing 41 |
| Synonyms |
8430415N23Rik, 9830132G07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL03139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139351576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 230
(T230A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
| AlphaFold |
Q811F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039867
AA Change: T230A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: T230A
| 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 |
unknown
Transcript: ENSMUST00000199011
AA Change: T62A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200243
AA Change: T230A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: T230A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,391,067 (GRCm39) |
F97L |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,764,145 (GRCm39) |
Y928C |
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,052,994 (GRCm38) |
V144A |
probably damaging |
Het |
| Baiap2l2 |
T |
A |
15: 79,155,753 (GRCm39) |
N107I |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,842,924 (GRCm39) |
K657E |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,961,547 (GRCm39) |
|
probably null |
Het |
| Cma2 |
A |
G |
14: 56,211,256 (GRCm39) |
I183V |
probably damaging |
Het |
| Col18a1 |
C |
A |
10: 76,949,177 (GRCm39) |
A112S |
possibly damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,446 (GRCm39) |
D100G |
possibly damaging |
Het |
| Defb29 |
T |
C |
2: 152,380,812 (GRCm39) |
K66E |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,219,232 (GRCm39) |
D566V |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,832,955 (GRCm39) |
R161L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,836,422 (GRCm39) |
L436F |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,731,776 (GRCm39) |
I254V |
possibly damaging |
Het |
| Gid8 |
C |
A |
2: 180,356,501 (GRCm39) |
A46E |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,618,649 (GRCm39) |
Q398K |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Iigp1c |
T |
C |
18: 60,379,221 (GRCm39) |
V252A |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,784,480 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,683 (GRCm39) |
S166P |
probably damaging |
Het |
| Map2k6 |
A |
T |
11: 110,387,299 (GRCm39) |
|
probably benign |
Het |
| Mmab |
A |
G |
5: 114,571,405 (GRCm39) |
L157P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,324 (GRCm39) |
E535V |
probably damaging |
Het |
| Mup4 |
T |
C |
4: 59,958,482 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
G |
6: 90,997,221 (GRCm39) |
S820P |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,517 (GRCm39) |
K188E |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,242,222 (GRCm39) |
I963V |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,590,049 (GRCm39) |
|
probably null |
Het |
| Plscr1 |
T |
C |
9: 92,148,438 (GRCm39) |
|
probably benign |
Het |
| Prss36 |
C |
T |
7: 127,532,783 (GRCm39) |
G202E |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,350 (GRCm39) |
V101E |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,405,999 (GRCm39) |
M67V |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,807,728 (GRCm39) |
M42I |
probably damaging |
Het |
| Strn3 |
C |
A |
12: 51,699,633 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
C |
A |
7: 127,848,476 (GRCm39) |
P197Q |
possibly damaging |
Het |
| Thsd4 |
A |
G |
9: 59,904,456 (GRCm39) |
V580A |
probably benign |
Het |
| Tjp1 |
C |
A |
7: 64,990,182 (GRCm39) |
|
probably benign |
Het |
| Tprn |
C |
T |
2: 25,154,066 (GRCm39) |
A456V |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,945,727 (GRCm39) |
Y763H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,507 (GRCm39) |
T18686A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,332,722 (GRCm39) |
T71S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,742 (GRCm39) |
Y349F |
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 |
|
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 |
139,350,925 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation