Incidental Mutation 'R6710:Zbtb39'
| ID |
529101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb39
|
| Ensembl Gene |
ENSMUSG00000044617 |
| Gene Name |
zinc finger and BTB domain containing 39 |
| Synonyms |
7030401O21Rik |
| MMRRC Submission |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127575407-127583218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127579505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 693
(I693N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
[ENSMUST00000079692]
|
| AlphaFold |
Q6PDK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054287
AA Change: I693N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: I693N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
126 |
9.15e-24 |
SMART |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
372 |
394 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
400 |
420 |
3.21e1 |
SMART |
|
ZnF_C2H2
|
451 |
474 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
480 |
502 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
508 |
530 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
538 |
560 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
605 |
627 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
661 |
683 |
2.49e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079692
|
| SMART Domains |
Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
316 |
1.2e-40 |
PFAM |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
probably damaging |
Het |
|
| Other mutations in Zbtb39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Zbtb39
|
APN |
10 |
127,578,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Zbtb39
|
UTSW |
10 |
127,578,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0962:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0964:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1188:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1189:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1239:Zbtb39
|
UTSW |
10 |
127,578,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Zbtb39
|
UTSW |
10 |
127,579,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1838:Zbtb39
|
UTSW |
10 |
127,578,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zbtb39
|
UTSW |
10 |
127,578,703 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2167:Zbtb39
|
UTSW |
10 |
127,578,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2346:Zbtb39
|
UTSW |
10 |
127,577,450 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4041:Zbtb39
|
UTSW |
10 |
127,579,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Zbtb39
|
UTSW |
10 |
127,578,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4409:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4410:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4539:Zbtb39
|
UTSW |
10 |
127,578,061 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5761:Zbtb39
|
UTSW |
10 |
127,578,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Zbtb39
|
UTSW |
10 |
127,578,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Zbtb39
|
UTSW |
10 |
127,577,429 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6919:Zbtb39
|
UTSW |
10 |
127,577,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Zbtb39
|
UTSW |
10 |
127,579,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Zbtb39
|
UTSW |
10 |
127,578,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Zbtb39
|
UTSW |
10 |
127,577,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zbtb39
|
UTSW |
10 |
127,578,296 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGAAACCTTATCAGTGCAAGG -3'
(R):5'- ACAGTAACAGCTTGTGTGCC -3'
Sequencing Primer
(F):5'- AGGTTTGTCACAAATTCTTCCGAGG -3'
(R):5'- ACAGTAACAGCTTGTGTGCCATTTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation