Incidental Mutation 'R9638:Zbtb14'
| ID |
725853 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R9638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
69690170-69697747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69695375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 358
(E358K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062369]
[ENSMUST00000112674]
[ENSMUST00000112676]
|
| AlphaFold |
Q08376 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062369
AA Change: E358K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: E358K
| 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: E358K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: E358K
| 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: E358K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: E358K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
G |
4: 53,092,806 (GRCm39) |
E326A |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,614,100 (GRCm39) |
N423K |
probably benign |
Het |
| Aldh4a1 |
T |
A |
4: 139,371,427 (GRCm39) |
I447N |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,596,406 (GRCm39) |
D170G |
possibly damaging |
Het |
| Bnc2 |
C |
T |
4: 84,332,492 (GRCm39) |
V75M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,437,159 (GRCm39) |
C1750F |
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,964,301 (GRCm39) |
N154K |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,988,687 (GRCm39) |
I223V |
probably damaging |
Het |
| Ces1b |
T |
A |
8: 93,806,534 (GRCm39) |
H4L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,209,763 (GRCm39) |
F1806I |
unknown |
Het |
| Cwh43 |
T |
A |
5: 73,565,486 (GRCm39) |
V17D |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,263,599 (GRCm39) |
G623D |
probably benign |
Het |
| Dtna |
A |
T |
18: 23,744,122 (GRCm39) |
I389L |
probably benign |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,956 (GRCm39) |
D13G |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,403,187 (GRCm39) |
I148V |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,568,391 (GRCm39) |
N1043Y |
probably damaging |
Het |
| Fli1 |
T |
C |
9: 32,388,020 (GRCm39) |
Y23C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,679,424 (GRCm39) |
V204A |
probably benign |
Het |
| Ighv4-1 |
T |
G |
12: 113,911,904 (GRCm39) |
R116S |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,619,566 (GRCm39) |
L239P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,856 (GRCm39) |
T299A |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,226 (GRCm39) |
L118P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,023 (GRCm39) |
T1290A |
probably benign |
Het |
| Mef2b |
ACCCTCACCC |
ACC |
8: 70,619,506 (GRCm39) |
|
probably null |
Het |
| Meltf |
G |
A |
16: 31,706,409 (GRCm39) |
E298K |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,550,626 (GRCm39) |
E5222D |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,618 (GRCm39) |
N2003S |
|
Het |
| Or1e23 |
A |
G |
11: 73,407,875 (GRCm39) |
I50T |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,509 (GRCm39) |
V158M |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,788 (GRCm39) |
V826A |
unknown |
Het |
| Paxbp1 |
C |
A |
16: 90,831,881 (GRCm39) |
V336L |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,831,882 (GRCm39) |
E335D |
probably benign |
Het |
| Por |
C |
A |
5: 135,754,615 (GRCm39) |
Q12K |
unknown |
Het |
| Pot1a |
G |
A |
6: 25,750,106 (GRCm39) |
Q519* |
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,264,693 (GRCm39) |
F321S |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,890,519 (GRCm39) |
Y438H |
possibly damaging |
Het |
| Rimklb |
A |
T |
6: 122,433,558 (GRCm39) |
N254K |
probably benign |
Het |
| Rpn2 |
A |
T |
2: 157,125,566 (GRCm39) |
T26S |
probably benign |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,760 (GRCm39) |
L168H |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,779,409 (GRCm39) |
A127S |
possibly damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,066 (GRCm39) |
N302Y |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,234,133 (GRCm39) |
T50A |
possibly damaging |
Het |
| Upf3a |
G |
A |
8: 13,848,343 (GRCm39) |
A380T |
probably benign |
Het |
| Zfp677 |
A |
T |
17: 21,618,056 (GRCm39) |
H371L |
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 |
|
R1374:Zbtb14
|
UTSW |
17 |
69,694,575 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGACGTTCTCCGATGAAGG -3'
(R):5'- TCTCACTCTGGATGGCACTG -3'
Sequencing Primer
(F):5'- TGAGAAGCTCCACACCGCTG -3'
(R):5'- GGTGACCTGTTTCCTCTCACTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation