Incidental Mutation 'R6716:Zc2hc1b'
| ID |
529403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc2hc1b
|
| Ensembl Gene |
ENSMUSG00000019815 |
| Gene Name |
zinc finger, C2HC-type containing 1B |
| Synonyms |
4930519B02Rik, Fam164b |
| MMRRC Submission |
044834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6716 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
13025388-13053782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13047027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 28
(D28G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019954]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019954
AA Change: D28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019954
Gene: ENSMUSG00000019815
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC_2
|
14 |
38 |
1.6e-10 |
PFAM |
|
low complexity region
|
104 |
112 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC_2
|
117 |
141 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219970
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,682 (GRCm39) |
A376T |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,910,943 (GRCm39) |
I296T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,501,370 (GRCm39) |
I409N |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,565 (GRCm39) |
T4310S |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,130 (GRCm39) |
S122P |
probably damaging |
Het |
| Krt20 |
T |
C |
11: 99,322,754 (GRCm39) |
T294A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,402,231 (GRCm39) |
S635N |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,148,637 (GRCm39) |
S242G |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,210,031 (GRCm39) |
S1028R |
probably damaging |
Het |
| Rlig1 |
T |
G |
10: 100,409,478 (GRCm39) |
I312L |
probably benign |
Het |
| Sec23a |
C |
T |
12: 59,015,609 (GRCm39) |
G711D |
probably benign |
Het |
| Slc50a1 |
T |
C |
3: 89,177,214 (GRCm39) |
T68A |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,339,949 (GRCm39) |
|
probably null |
Het |
| Tas2r122 |
A |
T |
6: 132,688,860 (GRCm39) |
I11N |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,290,516 (GRCm39) |
R782C |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,858,749 (GRCm39) |
L2733P |
probably benign |
Het |
| Vtn |
C |
T |
11: 78,391,052 (GRCm39) |
R211C |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,266,571 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zc2hc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02972:Zc2hc1b
|
APN |
10 |
13,047,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1792:Zc2hc1b
|
UTSW |
10 |
13,044,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Zc2hc1b
|
UTSW |
10 |
13,047,012 (GRCm39) |
splice site |
probably benign |
|
|
R5482:Zc2hc1b
|
UTSW |
10 |
13,029,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Zc2hc1b
|
UTSW |
10 |
13,047,055 (GRCm39) |
nonsense |
probably null |
|
|
R7064:Zc2hc1b
|
UTSW |
10 |
13,047,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Zc2hc1b
|
UTSW |
10 |
13,044,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Zc2hc1b
|
UTSW |
10 |
13,043,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9496:Zc2hc1b
|
UTSW |
10 |
13,044,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Zc2hc1b
|
UTSW |
10 |
13,043,677 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9723:Zc2hc1b
|
UTSW |
10 |
13,044,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCAGCCTGCCTCAGTGTC -3'
(R):5'- ATAATTATACTCTGCTTGCCCCGAG -3'
Sequencing Primer
(F):5'- AGTGTCCTCCCAGCCTG -3'
(R):5'- GCTTGCCCCGAGTTTGTGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation