Incidental Mutation 'IGL01796:Zbtb41'
| ID |
155364 |
| 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 # |
IGL01796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139350026-139380743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139370621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 686
(F686S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000200243]
|
| AlphaFold |
Q811F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039867
AA Change: F686S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: F686S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,273 (GRCm39) |
Y511H |
probably damaging |
Het |
| Abca7 |
T |
G |
10: 79,849,743 (GRCm39) |
Y1948D |
probably damaging |
Het |
| Adgrl2 |
C |
A |
3: 148,564,611 (GRCm39) |
G319V |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,715,461 (GRCm39) |
D909V |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,886 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cbr1 |
A |
C |
16: 93,405,119 (GRCm39) |
N89T |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,146,916 (GRCm39) |
Q2778L |
probably benign |
Het |
| Clca4c-ps |
A |
G |
3: 144,595,340 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
T |
C |
2: 148,677,269 (GRCm39) |
F47L |
probably damaging |
Het |
| Dqx1 |
T |
C |
6: 83,043,408 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,692,794 (GRCm39) |
S150G |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,907,728 (GRCm39) |
K142* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,276,785 (GRCm39) |
H169Q |
probably benign |
Het |
| Fmo9 |
C |
T |
1: 166,490,904 (GRCm39) |
A525T |
probably benign |
Het |
| Gm42878 |
T |
C |
5: 121,683,247 (GRCm39) |
D6G |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,056 (GRCm39) |
Y49C |
probably damaging |
Het |
| Il22b |
T |
C |
10: 118,126,069 (GRCm39) |
N176S |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,629,055 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,121,657 (GRCm39) |
E784G |
probably damaging |
Het |
| Jcad |
G |
T |
18: 4,672,855 (GRCm39) |
E206* |
probably null |
Het |
| Kif24 |
A |
T |
4: 41,392,978 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,809,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,534,240 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,045,244 (GRCm39) |
T451I |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,248,150 (GRCm39) |
N346K |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,825,964 (GRCm39) |
|
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,094,273 (GRCm39) |
V744A |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,985,192 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nos1 |
A |
T |
5: 118,076,339 (GRCm39) |
K1120* |
probably null |
Het |
| Or11g25 |
C |
A |
14: 50,722,998 (GRCm39) |
Q28K |
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,147 (GRCm39) |
R172H |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,750 (GRCm39) |
C391S |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,162,645 (GRCm39) |
|
probably benign |
Het |
| Sgce |
T |
G |
6: 4,711,326 (GRCm39) |
N149H |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,728,426 (GRCm39) |
W126R |
probably damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,147,404 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
A |
3: 83,845,362 (GRCm39) |
K423* |
probably null |
Het |
| Tnrc18 |
C |
T |
5: 142,750,642 (GRCm39) |
E1444K |
possibly damaging |
Het |
| Tpp1 |
T |
C |
7: 105,396,857 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,705,999 (GRCm39) |
S610R |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,076 (GRCm39) |
A525E |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,314 (GRCm39) |
M695K |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,585 (GRCm39) |
I455T |
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 |
|
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 |
139,350,925 (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 |
2014-02-04 |
Incidental Mutation