Incidental Mutation 'R1200:Zbtb49'
| ID |
101289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb49
|
| Ensembl Gene |
ENSMUSG00000029127 |
| Gene Name |
zinc finger and BTB domain containing 49 |
| Synonyms |
Zfp509, 4930518A03Rik |
| MMRRC Submission |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38370675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 402
(E402G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094833]
[ENSMUST00000114113]
[ENSMUST00000123106]
[ENSMUST00000126267]
[ENSMUST00000136475]
[ENSMUST00000143436]
[ENSMUST00000138820]
|
| AlphaFold |
Q8BXX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094833
AA Change: E402G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
AA Change: E402G
| 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 damaging
Transcript: ENSMUST00000114113
AA Change: E402G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109748
Gene: ENSMUSG00000029127
AA Change: E402G
| 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 benign
Transcript: ENSMUST00000123106
|
| SMART Domains |
Protein: ENSMUSP00000144200
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
12 |
51 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126267
AA Change: E402G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127
AA Change: E402G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129161
AA Change: S74G
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136475
AA Change: E402G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127
AA Change: E402G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143436
|
| SMART Domains |
Protein: ENSMUSP00000115513
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
15 |
75 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138820
|
| SMART Domains |
Protein: ENSMUSP00000117913
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
13 |
63 |
4.3e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
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 |
|
PIT4585001:Zbtb49
|
UTSW |
5 |
38,373,820 (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 |
|
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'- AGCTTGATGATGCTCCCTGCAC -3'
(R):5'- CACCCTGAGCCAGATAATGGGTTG -3'
Sequencing Primer
(F):5'- TGATGCTCCCTGCACAGAAC -3'
(R):5'- TCTGCTGCTAAGGAAGATGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation