Incidental Mutation 'R5536:Zbtb40'
| ID |
434817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb40
|
| Ensembl Gene |
ENSMUSG00000060862 |
| Gene Name |
zinc finger and BTB domain containing 40 |
| Synonyms |
|
| MMRRC Submission |
043094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5536 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136707043-136776112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136714642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1049
(P1049Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049583]
|
| AlphaFold |
Q6PCS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049583
AA Change: P1049Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: P1049Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
14 |
N/A |
INTRINSIC |
|
BTB
|
24 |
117 |
3.39e-18 |
SMART |
|
low complexity region
|
150 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
741 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
754 |
774 |
4.86e1 |
SMART |
|
low complexity region
|
786 |
801 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
825 |
848 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
854 |
876 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
882 |
905 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
911 |
933 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
939 |
962 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
969 |
992 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
997 |
1019 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
1025 |
1047 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
1065 |
1088 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
1094 |
1117 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
1123 |
1146 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
1154 |
1177 |
1.56e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218160
AA Change: P140Q
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
| Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
| Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
| E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
| Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
| Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
| Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
| Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
| Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
| Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
| Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
| Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
| Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
| Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
| Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
| Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Zbtb40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Zbtb40
|
APN |
4 |
136,714,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00573:Zbtb40
|
APN |
4 |
136,745,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00774:Zbtb40
|
APN |
4 |
136,721,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Zbtb40
|
UTSW |
4 |
136,713,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Zbtb40
|
UTSW |
4 |
136,745,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0482:Zbtb40
|
UTSW |
4 |
136,710,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Zbtb40
|
UTSW |
4 |
136,712,148 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1846:Zbtb40
|
UTSW |
4 |
136,735,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Zbtb40
|
UTSW |
4 |
136,718,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Zbtb40
|
UTSW |
4 |
136,744,596 (GRCm39) |
nonsense |
probably null |
|
|
R2291:Zbtb40
|
UTSW |
4 |
136,712,328 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2406:Zbtb40
|
UTSW |
4 |
136,725,879 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3707:Zbtb40
|
UTSW |
4 |
136,726,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4131:Zbtb40
|
UTSW |
4 |
136,722,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Zbtb40
|
UTSW |
4 |
136,745,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Zbtb40
|
UTSW |
4 |
136,726,005 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4725:Zbtb40
|
UTSW |
4 |
136,746,072 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4784:Zbtb40
|
UTSW |
4 |
136,734,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4796:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4838:Zbtb40
|
UTSW |
4 |
136,728,527 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4859:Zbtb40
|
UTSW |
4 |
136,716,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4883:Zbtb40
|
UTSW |
4 |
136,728,241 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5001:Zbtb40
|
UTSW |
4 |
136,723,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Zbtb40
|
UTSW |
4 |
136,725,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Zbtb40
|
UTSW |
4 |
136,728,604 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5529:Zbtb40
|
UTSW |
4 |
136,710,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5589:Zbtb40
|
UTSW |
4 |
136,722,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Zbtb40
|
UTSW |
4 |
136,716,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Zbtb40
|
UTSW |
4 |
136,712,177 (GRCm39) |
missense |
probably null |
|
|
R7208:Zbtb40
|
UTSW |
4 |
136,726,937 (GRCm39) |
splice site |
probably null |
|
|
R7406:Zbtb40
|
UTSW |
4 |
136,728,205 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7722:Zbtb40
|
UTSW |
4 |
136,718,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7803:Zbtb40
|
UTSW |
4 |
136,744,638 (GRCm39) |
missense |
probably benign |
|
|
R8292:Zbtb40
|
UTSW |
4 |
136,726,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Zbtb40
|
UTSW |
4 |
136,725,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Zbtb40
|
UTSW |
4 |
136,725,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Zbtb40
|
UTSW |
4 |
136,745,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Zbtb40
|
UTSW |
4 |
136,745,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Zbtb40
|
UTSW |
4 |
136,745,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF014:Zbtb40
|
UTSW |
4 |
136,744,617 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Zbtb40
|
UTSW |
4 |
136,722,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zbtb40
|
UTSW |
4 |
136,745,335 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTGTGCTAGGGAAGAG -3'
(R):5'- ACATCGTCTCCTAGGCTTGTG -3'
Sequencing Primer
(F):5'- AATTGCCACGGTGCCTG -3'
(R):5'- CTCCTAGGCTTGTGTGAGTGAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation