Incidental Mutation 'R5466:Zbtb21'
| ID |
433257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb21
|
| Ensembl Gene |
ENSMUSG00000046962 |
| Gene Name |
zinc finger and BTB domain containing 21 |
| Synonyms |
Zfp295, Znf295, B430213I24Rik, 5430437K12Rik |
| MMRRC Submission |
043027-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R5466 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97751698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 690
(S690P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052089]
[ENSMUST00000063605]
[ENSMUST00000113734]
[ENSMUST00000231263]
[ENSMUST00000231560]
[ENSMUST00000232187]
[ENSMUST00000232165]
|
| AlphaFold |
E9Q444 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052089
AA Change: S690P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: S690P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
154 |
5.14e-18 |
SMART |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
578 |
598 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
605 |
628 |
8.67e-1 |
SMART |
|
low complexity region
|
708 |
728 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
737 |
757 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
765 |
787 |
4.65e-1 |
SMART |
|
low complexity region
|
804 |
829 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
871 |
893 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063605
AA Change: S862P
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: S862P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
126 |
5.14e-18 |
SMART |
|
low complexity region
|
433 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
549 |
572 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
578 |
601 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
673 |
695 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
750 |
770 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
777 |
800 |
8.67e-1 |
SMART |
|
low complexity region
|
880 |
900 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
909 |
929 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
937 |
959 |
4.65e-1 |
SMART |
|
low complexity region
|
976 |
1001 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1043 |
1065 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113734
AA Change: S890P
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: S890P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
154 |
5.14e-18 |
SMART |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
577 |
600 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
606 |
629 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
701 |
723 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
778 |
798 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
805 |
828 |
8.67e-1 |
SMART |
|
low complexity region
|
908 |
928 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
937 |
957 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
965 |
987 |
4.65e-1 |
SMART |
|
low complexity region
|
1004 |
1029 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1071 |
1093 |
1.79e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232187
AA Change: S176P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232165
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
| Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
| Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
| Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Zbtb21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Zbtb21
|
APN |
16 |
97,753,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00921:Zbtb21
|
APN |
16 |
97,753,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Zbtb21
|
APN |
16 |
97,753,889 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02310:Zbtb21
|
APN |
16 |
97,752,990 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03126:Zbtb21
|
APN |
16 |
97,752,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03332:Zbtb21
|
APN |
16 |
97,753,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0165:Zbtb21
|
UTSW |
16 |
97,752,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Zbtb21
|
UTSW |
16 |
97,751,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Zbtb21
|
UTSW |
16 |
97,753,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Zbtb21
|
UTSW |
16 |
97,753,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Zbtb21
|
UTSW |
16 |
97,753,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1565:Zbtb21
|
UTSW |
16 |
97,753,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Zbtb21
|
UTSW |
16 |
97,751,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2049:Zbtb21
|
UTSW |
16 |
97,751,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Zbtb21
|
UTSW |
16 |
97,753,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Zbtb21
|
UTSW |
16 |
97,751,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4620:Zbtb21
|
UTSW |
16 |
97,751,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4754:Zbtb21
|
UTSW |
16 |
97,752,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Zbtb21
|
UTSW |
16 |
97,751,655 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5989:Zbtb21
|
UTSW |
16 |
97,752,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Zbtb21
|
UTSW |
16 |
97,751,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6469:Zbtb21
|
UTSW |
16 |
97,757,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6732:Zbtb21
|
UTSW |
16 |
97,752,282 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6830:Zbtb21
|
UTSW |
16 |
97,753,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Zbtb21
|
UTSW |
16 |
97,751,112 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7129:Zbtb21
|
UTSW |
16 |
97,752,887 (GRCm39) |
small deletion |
probably benign |
|
|
R7261:Zbtb21
|
UTSW |
16 |
97,754,179 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7305:Zbtb21
|
UTSW |
16 |
97,752,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7372:Zbtb21
|
UTSW |
16 |
97,751,569 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7564:Zbtb21
|
UTSW |
16 |
97,752,740 (GRCm39) |
nonsense |
probably null |
|
|
R7670:Zbtb21
|
UTSW |
16 |
97,753,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Zbtb21
|
UTSW |
16 |
97,752,654 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8142:Zbtb21
|
UTSW |
16 |
97,752,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8547:Zbtb21
|
UTSW |
16 |
97,753,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8822:Zbtb21
|
UTSW |
16 |
97,752,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8823:Zbtb21
|
UTSW |
16 |
97,752,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9675:Zbtb21
|
UTSW |
16 |
97,752,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Zbtb21
|
UTSW |
16 |
97,753,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCGTGAACATCTTTCCGC -3'
(R):5'- AAGTCCTCCTTCAGCATCTGG -3'
Sequencing Primer
(F):5'- GCATTTCTCACAGGGCCATAG -3'
(R):5'- CCAGAACAACATGGCTTTAGCAGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation