Incidental Mutation 'R1374:Zbtb14'
| ID |
157458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb14
|
| Ensembl Gene |
ENSMUSG00000049672 |
| Gene Name |
zinc finger and BTB domain containing 14 |
| Synonyms |
Zfp161, b2b1982Clo, ZF5 |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69690170-69697747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69694575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 91
(N91S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062369]
[ENSMUST00000112674]
[ENSMUST00000112676]
|
| AlphaFold |
Q08376 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062369
AA Change: N91S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: N91S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
132 |
8.8e-26 |
SMART |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
389 |
412 |
2.02e-1 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112674
AA Change: N91S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: N91S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
132 |
8.8e-26 |
SMART |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
389 |
412 |
2.02e-1 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112676
AA Change: N91S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: N91S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
132 |
8.8e-26 |
SMART |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
389 |
412 |
2.02e-1 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3388 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation show exencephaly, cardiac defects including valve abnormalities, double outlet right ventricle, perimembranous ventricular septal defect, and atrioventricular septal defect, and renal anomalies such as duplex kidney, hydronephrosis, and kidney cysts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably damaging |
Het |
|
| Other mutations in Zbtb14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Zbtb14
|
APN |
17 |
69,695,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01623:Zbtb14
|
APN |
17 |
69,695,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02477:Zbtb14
|
APN |
17 |
69,694,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4687001:Zbtb14
|
UTSW |
17 |
69,695,302 (GRCm39) |
nonsense |
probably null |
|
|
R0736:Zbtb14
|
UTSW |
17 |
69,694,797 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0811:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0947:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Zbtb14
|
UTSW |
17 |
69,694,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1507:Zbtb14
|
UTSW |
17 |
69,694,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1508:Zbtb14
|
UTSW |
17 |
69,694,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Zbtb14
|
UTSW |
17 |
69,694,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1514:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Zbtb14
|
UTSW |
17 |
69,694,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Zbtb14
|
UTSW |
17 |
69,694,385 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1981:Zbtb14
|
UTSW |
17 |
69,695,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2916:Zbtb14
|
UTSW |
17 |
69,695,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2918:Zbtb14
|
UTSW |
17 |
69,695,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Zbtb14
|
UTSW |
17 |
69,695,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Zbtb14
|
UTSW |
17 |
69,695,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4812:Zbtb14
|
UTSW |
17 |
69,694,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Zbtb14
|
UTSW |
17 |
69,694,478 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6889:Zbtb14
|
UTSW |
17 |
69,694,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Zbtb14
|
UTSW |
17 |
69,694,442 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7716:Zbtb14
|
UTSW |
17 |
69,694,415 (GRCm39) |
missense |
probably benign |
|
|
R8976:Zbtb14
|
UTSW |
17 |
69,694,752 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9341:Zbtb14
|
UTSW |
17 |
69,695,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9343:Zbtb14
|
UTSW |
17 |
69,695,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9638:Zbtb14
|
UTSW |
17 |
69,695,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGATGTAAAGTTCCGAGCCCAC -3'
(R):5'- TGCCCTCTACCGTGTCATCAGAAG -3'
Sequencing Primer
(F):5'- CAGCTCGTCCGTCATAGAGATA -3'
(R):5'- TCATCAGAAGGGCTGTCATC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation