Incidental Mutation 'PIT4585001:Zbtb49'
| ID |
556596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb49
|
| Ensembl Gene |
ENSMUSG00000029127 |
| Gene Name |
zinc finger and BTB domain containing 49 |
| Synonyms |
Zfp509, 4930518A03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
PIT4585001 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38373820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 41
(N41K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087514]
[ENSMUST00000094833]
[ENSMUST00000114106]
[ENSMUST00000114113]
[ENSMUST00000123106]
[ENSMUST00000123207]
[ENSMUST00000126267]
[ENSMUST00000130721]
[ENSMUST00000132190]
[ENSMUST00000136475]
[ENSMUST00000138820]
[ENSMUST00000143436]
[ENSMUST00000152066]
[ENSMUST00000154975]
[ENSMUST00000155300]
[ENSMUST00000202506]
|
| AlphaFold |
Q8BXX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087514
|
| SMART Domains |
Protein: ENSMUSP00000084791
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
1.7e-18 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094833
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
3.39e-3 |
SMART |
|
low complexity region
|
597 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114106
|
| SMART Domains |
Protein: ENSMUSP00000109741
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
4.3e-18 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114113
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109748
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
low complexity region
|
413 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123106
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144200
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
12 |
51 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123207
|
| SMART Domains |
Protein: ENSMUSP00000121204
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
8e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126267
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130721
|
| SMART Domains |
Protein: ENSMUSP00000122153
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
2.4e-17 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132190
|
| SMART Domains |
Protein: ENSMUSP00000121320
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
2.4e-17 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136475
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138820
AA Change: N41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117913
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
13 |
63 |
4.3e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143436
AA Change: N41K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115513
Gene: ENSMUSG00000029127
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
15 |
75 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155300
|
| SMART Domains |
Protein: ENSMUSP00000122486
Gene: ENSMUSG00000067367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202506
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
| Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
| Eif5a |
T |
C |
11: 69,808,896 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
| Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
| Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
| Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
| Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
| Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
| Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,697 (GRCm39) |
C263R |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
| Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
| Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
| Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
| Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
| Oit3 |
T |
A |
10: 59,266,835 (GRCm39) |
I224F |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
| Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
| Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,794,276 (GRCm39) |
S548L |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
| Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
| Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
| Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,681,631 (GRCm39) |
V696G |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
probably benign |
Het |
|
| Other mutations in Zbtb49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01355:Zbtb49
|
APN |
5 |
38,367,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01736:Zbtb49
|
APN |
5 |
38,358,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Zbtb49
|
UTSW |
5 |
38,358,174 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0526:Zbtb49
|
UTSW |
5 |
38,371,263 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0646:Zbtb49
|
UTSW |
5 |
38,358,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Zbtb49
|
UTSW |
5 |
38,370,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Zbtb49
|
UTSW |
5 |
38,371,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1964:Zbtb49
|
UTSW |
5 |
38,361,105 (GRCm39) |
nonsense |
probably null |
|
|
R2155:Zbtb49
|
UTSW |
5 |
38,371,464 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2483:Zbtb49
|
UTSW |
5 |
38,360,701 (GRCm39) |
intron |
probably benign |
|
|
R3617:Zbtb49
|
UTSW |
5 |
38,357,975 (GRCm39) |
unclassified |
probably benign |
|
|
R4937:Zbtb49
|
UTSW |
5 |
38,371,307 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5579:Zbtb49
|
UTSW |
5 |
38,358,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5699:Zbtb49
|
UTSW |
5 |
38,373,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Zbtb49
|
UTSW |
5 |
38,360,903 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6426:Zbtb49
|
UTSW |
5 |
38,360,431 (GRCm39) |
splice site |
probably null |
|
|
R6735:Zbtb49
|
UTSW |
5 |
38,358,402 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6805:Zbtb49
|
UTSW |
5 |
38,370,585 (GRCm39) |
intron |
probably benign |
|
|
R6869:Zbtb49
|
UTSW |
5 |
38,371,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Zbtb49
|
UTSW |
5 |
38,370,711 (GRCm39) |
nonsense |
probably null |
|
|
R7899:Zbtb49
|
UTSW |
5 |
38,371,274 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Zbtb49
|
UTSW |
5 |
38,358,198 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8461:Zbtb49
|
UTSW |
5 |
38,358,453 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8517:Zbtb49
|
UTSW |
5 |
38,357,997 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8523:Zbtb49
|
UTSW |
5 |
38,370,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Zbtb49
|
UTSW |
5 |
38,358,289 (GRCm39) |
missense |
probably benign |
|
|
R9160:Zbtb49
|
UTSW |
5 |
38,363,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Zbtb49
|
UTSW |
5 |
38,370,931 (GRCm39) |
missense |
probably benign |
|
|
R9315:Zbtb49
|
UTSW |
5 |
38,358,082 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9480:Zbtb49
|
UTSW |
5 |
38,358,409 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGTTGGCTAAGAGTCTCTTCTC -3'
(R):5'- TCCCCTTTGTGCCAATGGTG -3'
Sequencing Primer
(F):5'- CGAGTTACTCTGAACACAAAGTG -3'
(R):5'- GCCAATGGTGTCCTTGAGACTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation