Incidental Mutation 'R1276:Zbtb4'
ID |
150901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb4
|
Ensembl Gene |
ENSMUSG00000018750 |
Gene Name |
zinc finger and BTB domain containing 4 |
Synonyms |
9230111I22Rik, 2310026P19Rik |
MMRRC Submission |
039342-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1276 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69656738-69674849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 69667045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 117
(D117Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108638]
[ENSMUST00000108639]
[ENSMUST00000108640]
[ENSMUST00000108642]
[ENSMUST00000132528]
[ENSMUST00000153943]
[ENSMUST00000156932]
|
AlphaFold |
Q5F293 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108638
AA Change: D117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104278 Gene: ENSMUSG00000018750 AA Change: D117Y
Domain | Start | End | E-Value | Type |
BTB
|
30 |
166 |
2e-15 |
SMART |
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108639
AA Change: D117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104279 Gene: ENSMUSG00000018750 AA Change: D117Y
Domain | Start | End | E-Value | Type |
BTB
|
30 |
166 |
2e-15 |
SMART |
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108640
AA Change: D117Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104280 Gene: ENSMUSG00000018750 AA Change: D117Y
Domain | Start | End | E-Value | Type |
BTB
|
30 |
166 |
2e-15 |
SMART |
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108642
AA Change: D117Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104282 Gene: ENSMUSG00000018750 AA Change: D117Y
Domain | Start | End | E-Value | Type |
BTB
|
30 |
166 |
2e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132528
|
SMART Domains |
Protein: ENSMUSP00000121694 Gene: ENSMUSG00000018750
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
20 |
56 |
6.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153943
|
SMART Domains |
Protein: ENSMUSP00000118027 Gene: ENSMUSG00000018750
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
20 |
51 |
5.6e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156932
|
SMART Domains |
Protein: ENSMUSP00000115687 Gene: ENSMUSG00000018750
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
20 |
51 |
6e-8 |
PFAM |
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
probably damaging |
Het |
|
Other mutations in Zbtb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00592:Zbtb4
|
APN |
11 |
69,667,557 (GRCm39) |
nonsense |
probably null |
|
IGL02178:Zbtb4
|
APN |
11 |
69,667,255 (GRCm39) |
nonsense |
probably null |
|
R0092:Zbtb4
|
UTSW |
11 |
69,670,177 (GRCm39) |
missense |
probably benign |
|
R0403:Zbtb4
|
UTSW |
11 |
69,668,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R1654:Zbtb4
|
UTSW |
11 |
69,669,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R1734:Zbtb4
|
UTSW |
11 |
69,667,289 (GRCm39) |
missense |
probably benign |
0.13 |
R1762:Zbtb4
|
UTSW |
11 |
69,669,743 (GRCm39) |
missense |
probably benign |
0.03 |
R2224:Zbtb4
|
UTSW |
11 |
69,667,184 (GRCm39) |
missense |
probably benign |
0.43 |
R2930:Zbtb4
|
UTSW |
11 |
69,667,342 (GRCm39) |
nonsense |
probably null |
|
R4670:Zbtb4
|
UTSW |
11 |
69,667,355 (GRCm39) |
missense |
probably damaging |
0.97 |
R4998:Zbtb4
|
UTSW |
11 |
69,669,497 (GRCm39) |
missense |
probably benign |
0.31 |
R5956:Zbtb4
|
UTSW |
11 |
69,669,040 (GRCm39) |
missense |
probably benign |
0.29 |
R5988:Zbtb4
|
UTSW |
11 |
69,669,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Zbtb4
|
UTSW |
11 |
69,667,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Zbtb4
|
UTSW |
11 |
69,669,069 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6803:Zbtb4
|
UTSW |
11 |
69,669,454 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7395:Zbtb4
|
UTSW |
11 |
69,666,937 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7756:Zbtb4
|
UTSW |
11 |
69,669,368 (GRCm39) |
missense |
probably benign |
0.27 |
R7758:Zbtb4
|
UTSW |
11 |
69,669,368 (GRCm39) |
missense |
probably benign |
0.27 |
R7877:Zbtb4
|
UTSW |
11 |
69,666,863 (GRCm39) |
missense |
probably benign |
0.39 |
R8215:Zbtb4
|
UTSW |
11 |
69,669,598 (GRCm39) |
missense |
probably benign |
0.00 |
R8306:Zbtb4
|
UTSW |
11 |
69,668,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8407:Zbtb4
|
UTSW |
11 |
69,669,101 (GRCm39) |
missense |
probably benign |
0.00 |
R8690:Zbtb4
|
UTSW |
11 |
69,667,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Zbtb4
|
UTSW |
11 |
69,668,989 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9032:Zbtb4
|
UTSW |
11 |
69,672,650 (GRCm39) |
missense |
probably benign |
|
R9674:Zbtb4
|
UTSW |
11 |
69,669,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGAAGCCCTACTAGCTTCAGCC -3'
(R):5'- TACATTGCTGTGCCGCTTCAGG -3'
Sequencing Primer
(F):5'- ACTAGCTTCAGCCCCACTG -3'
(R):5'- TTTTCCACATCGAGGGCAAG -3'
|
Posted On |
2014-01-29 |