Incidental Mutation 'R0843:Zc3h3'
| ID |
77268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h3
|
| Ensembl Gene |
ENSMUSG00000075600 |
| Gene Name |
zinc finger CCCH type containing 3 |
| Synonyms |
Smicl |
| MMRRC Submission |
039022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R0843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75626279-75713764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75709328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 514
(S514P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100538]
|
| AlphaFold |
Q8CHP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100538
AA Change: S514P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098106
Gene: ENSMUSG00000075600
AA Change: S514P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
663 |
689 |
1.03e-2 |
SMART |
|
ZnF_C3H1
|
690 |
716 |
1.16e-1 |
SMART |
|
ZnF_C3H1
|
718 |
743 |
5.38e-6 |
SMART |
|
ZnF_C3H1
|
745 |
771 |
2.88e-6 |
SMART |
|
ZnF_C3H1
|
772 |
794 |
1.64e-1 |
SMART |
|
low complexity region
|
839 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
905 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
All alleles(7) : Targeted, other(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
| Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
| Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
| Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
| Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
| Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
| Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
| Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
| Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zc3h3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Zc3h3
|
APN |
15 |
75,651,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Zc3h3
|
UTSW |
15 |
75,712,414 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0477:Zc3h3
|
UTSW |
15 |
75,648,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1891:Zc3h3
|
UTSW |
15 |
75,628,780 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1918:Zc3h3
|
UTSW |
15 |
75,648,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2009:Zc3h3
|
UTSW |
15 |
75,651,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Zc3h3
|
UTSW |
15 |
75,711,415 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3853:Zc3h3
|
UTSW |
15 |
75,709,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5130:Zc3h3
|
UTSW |
15 |
75,651,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Zc3h3
|
UTSW |
15 |
75,681,512 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5164:Zc3h3
|
UTSW |
15 |
75,648,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5279:Zc3h3
|
UTSW |
15 |
75,711,439 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5622:Zc3h3
|
UTSW |
15 |
75,648,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Zc3h3
|
UTSW |
15 |
75,651,380 (GRCm39) |
nonsense |
probably null |
|
|
R5923:Zc3h3
|
UTSW |
15 |
75,657,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6294:Zc3h3
|
UTSW |
15 |
75,681,417 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6377:Zc3h3
|
UTSW |
15 |
75,711,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6735:Zc3h3
|
UTSW |
15 |
75,628,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7043:Zc3h3
|
UTSW |
15 |
75,681,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Zc3h3
|
UTSW |
15 |
75,712,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Zc3h3
|
UTSW |
15 |
75,657,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9038:Zc3h3
|
UTSW |
15 |
75,711,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9068:Zc3h3
|
UTSW |
15 |
75,711,499 (GRCm39) |
missense |
probably benign |
|
|
R9557:Zc3h3
|
UTSW |
15 |
75,711,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Zc3h3
|
UTSW |
15 |
75,651,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Zc3h3
|
UTSW |
15 |
75,681,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Zc3h3
|
UTSW |
15 |
75,709,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9782:Zc3h3
|
UTSW |
15 |
75,681,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAACACTAGCAGACTTTCCATC -3'
(R):5'- TGCTCTACTTGGAGGACATTGCAAC -3'
Sequencing Primer
(F):5'- AGCTGTAAGCCTCTTAACCC -3'
(R):5'- TAGCCCGGTTCTAAGGAAGA -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation