Incidental Mutation 'R6115:Zbtb4'
| ID |
485093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb4
|
| Ensembl Gene |
ENSMUSG00000018750 |
| Gene Name |
zinc finger and BTB domain containing 4 |
| Synonyms |
9230111I22Rik, 2310026P19Rik |
| MMRRC Submission |
044264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69656738-69674849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69667148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 151
(I151T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104278
(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: I151T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750
AA Change: I151T
| 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 |
|
| Meta Mutation Damage Score |
0.3103 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,517,411 (GRCm39) |
H402Q |
probably damaging |
Het |
| Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,374 (GRCm39) |
|
probably null |
Het |
| Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
| Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
| F7 |
T |
A |
8: 13,083,958 (GRCm39) |
N214K |
probably benign |
Het |
| Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
| Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
| Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
| Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
| Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
| Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,522,444 (GRCm39) |
V307E |
possibly damaging |
Het |
| Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
| Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
| Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
| Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
| Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
| Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
| Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
| Zfp110 |
A |
T |
7: 12,583,701 (GRCm39) |
Q783L |
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 |
|
R1276:Zbtb4
|
UTSW |
11 |
69,667,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTTCAGAGAAGCCCTACTAGC -3'
(R):5'- TTTTCCACATCGAGGGCAAGG -3'
Sequencing Primer
(F):5'- AGTTACTGGCGGCTCAGC -3'
(R):5'- CAAGGAAAGGGCCGCCG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation