Incidental Mutation 'R2246:Zbed5'
| ID |
240851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbed5
|
| Ensembl Gene |
ENSMUSG00000034173 |
| Gene Name |
zinc finger BED-type containing 5 |
| Synonyms |
2410018M08Rik, Chchd2l, Zbed5 |
| MMRRC Submission |
040246-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
129924564-129932464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129931592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 514
(M514L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041466]
[ENSMUST00000077320]
[ENSMUST00000140667]
|
| AlphaFold |
B2RPU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041466
AA Change: M514L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: M514L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
281 |
412 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077320
|
| SMART Domains |
Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
Pfam:CHCH
|
95 |
128 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140667
|
| SMART Domains |
Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
20 |
143 |
4.1e-9 |
PFAM |
|
Pfam:Pkinase
|
20 |
144 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202430
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
G |
6: 85,599,949 (GRCm39) |
S1592A |
possibly damaging |
Het |
| Anapc16 |
G |
T |
10: 59,832,298 (GRCm39) |
Y38* |
probably null |
Het |
| Clec7a |
T |
A |
6: 129,444,532 (GRCm39) |
H101L |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,661 (GRCm39) |
D331G |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,731,376 (GRCm39) |
T618A |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
T |
1: 71,667,694 (GRCm39) |
D766E |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,121 (GRCm39) |
*395W |
probably null |
Het |
| Grik2 |
C |
T |
10: 49,411,532 (GRCm39) |
R202H |
probably damaging |
Het |
| Hcls1 |
G |
T |
16: 36,782,984 (GRCm39) |
S445I |
probably damaging |
Het |
| Hip1 |
A |
C |
5: 135,481,698 (GRCm39) |
S166R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
A |
1: 172,319,216 (GRCm39) |
S236R |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,902,708 (GRCm39) |
P1470S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,251,432 (GRCm39) |
H675Q |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,195 (GRCm39) |
S49T |
probably benign |
Het |
| Or6c3b |
A |
G |
10: 129,527,812 (GRCm39) |
Y33H |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,330,169 (GRCm39) |
D236G |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,674,333 (GRCm39) |
K332R |
probably benign |
Het |
| Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
| Pramel11 |
A |
G |
4: 143,623,790 (GRCm39) |
V128A |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,535,360 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,638 (GRCm39) |
G473S |
probably damaging |
Het |
| Shisal1 |
T |
A |
15: 84,301,400 (GRCm39) |
H81L |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,582,723 (GRCm39) |
Y222N |
probably damaging |
Het |
| Slc38a7 |
A |
T |
8: 96,570,468 (GRCm39) |
M269K |
probably damaging |
Het |
| Srrd |
A |
T |
5: 112,487,622 (GRCm39) |
L159H |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,427,775 (GRCm39) |
S218Y |
possibly damaging |
Het |
| Tex15 |
G |
A |
8: 34,072,540 (GRCm39) |
V2696I |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,651 (GRCm39) |
T1030I |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,751,190 (GRCm39) |
|
probably null |
Het |
| Try4 |
C |
T |
6: 41,282,406 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,518 (GRCm39) |
V191I |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,764 (GRCm39) |
Y747C |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,466,058 (GRCm39) |
P439S |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,691,361 (GRCm39) |
D1180G |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,461 (GRCm39) |
D790E |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,329 (GRCm39) |
K537R |
probably benign |
Het |
|
| Other mutations in Zbed5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02225:Zbed5
|
APN |
5 |
129,930,974 (GRCm39) |
splice site |
probably null |
|
|
IGL03334:Zbed5
|
APN |
5 |
129,931,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0449:Zbed5
|
UTSW |
5 |
129,930,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Zbed5
|
UTSW |
5 |
129,931,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0763:Zbed5
|
UTSW |
5 |
129,931,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1967:Zbed5
|
UTSW |
5 |
129,930,510 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2925:Zbed5
|
UTSW |
5 |
129,932,039 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3053:Zbed5
|
UTSW |
5 |
129,930,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3701:Zbed5
|
UTSW |
5 |
129,932,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3702:Zbed5
|
UTSW |
5 |
129,932,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3916:Zbed5
|
UTSW |
5 |
129,931,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3917:Zbed5
|
UTSW |
5 |
129,931,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4547:Zbed5
|
UTSW |
5 |
129,931,692 (GRCm39) |
nonsense |
probably null |
|
|
R4548:Zbed5
|
UTSW |
5 |
129,931,692 (GRCm39) |
nonsense |
probably null |
|
|
R5195:Zbed5
|
UTSW |
5 |
129,931,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5500:Zbed5
|
UTSW |
5 |
129,930,823 (GRCm39) |
nonsense |
probably null |
|
|
R5813:Zbed5
|
UTSW |
5 |
129,931,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6377:Zbed5
|
UTSW |
5 |
129,932,210 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6620:Zbed5
|
UTSW |
5 |
129,932,130 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6862:Zbed5
|
UTSW |
5 |
129,932,026 (GRCm39) |
missense |
probably benign |
|
|
R6931:Zbed5
|
UTSW |
5 |
129,932,170 (GRCm39) |
nonsense |
probably null |
|
|
R7223:Zbed5
|
UTSW |
5 |
129,929,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Zbed5
|
UTSW |
5 |
129,930,798 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7918:Zbed5
|
UTSW |
5 |
129,930,504 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7982:Zbed5
|
UTSW |
5 |
129,929,321 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCGTCATGATCGGAGAC -3'
(R):5'- CGGATAAGGTAGGCAACATGTAA -3'
Sequencing Primer
(F):5'- CGTTTCTGAGACAGCATGAGATCTC -3'
(R):5'- CCAGAGTTGAAGTTTCATTTGGAATG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation