Incidental Mutation 'R5923:Zc3h3'
| ID |
461695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h3
|
| Ensembl Gene |
ENSMUSG00000075600 |
| Gene Name |
zinc finger CCCH type containing 3 |
| Synonyms |
Smicl |
| MMRRC Submission |
043241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R5923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75626279-75713764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75657413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 593
(R593S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100538]
|
| AlphaFold |
Q8CHP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100538
AA Change: R593S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098106
Gene: ENSMUSG00000075600
AA Change: R593S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229970
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted, other(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
T |
G |
10: 120,614,675 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,051,378 (GRCm39) |
V106A |
probably benign |
Het |
| Arnt2 |
G |
T |
7: 83,911,741 (GRCm39) |
T577K |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,762 (GRCm39) |
T2184I |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,025,610 (GRCm39) |
V228I |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,833,105 (GRCm39) |
N890S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,004,560 (GRCm39) |
M120K |
possibly damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,525 (GRCm39) |
F491S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,490,889 (GRCm39) |
S185T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,220,840 (GRCm39) |
S2215P |
probably benign |
Het |
| Echdc3 |
A |
G |
2: 6,194,383 (GRCm39) |
V224A |
possibly damaging |
Het |
| Hivep3 |
G |
T |
4: 119,953,490 (GRCm39) |
S602I |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,021,055 (GRCm39) |
S99G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,495 (GRCm39) |
T1617A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,661 (GRCm39) |
E1020G |
unknown |
Het |
| Nbeal1 |
T |
C |
1: 60,287,554 (GRCm39) |
F933L |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,101,676 (GRCm39) |
I419N |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,194,102 (GRCm39) |
I136V |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,154 (GRCm39) |
D179E |
probably benign |
Het |
| Plcb4 |
A |
T |
2: 135,803,734 (GRCm39) |
K536* |
probably null |
Het |
| Polk |
A |
T |
13: 96,631,923 (GRCm39) |
I270N |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,346 (GRCm39) |
M106L |
probably benign |
Het |
| Scap |
G |
T |
9: 110,212,648 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,923,959 (GRCm39) |
H787Q |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,781,507 (GRCm39) |
D215G |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,470,978 (GRCm39) |
C665Y |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,674,638 (GRCm39) |
R118C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,901 (GRCm39) |
H13245L |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,727 (GRCm39) |
S1631P |
probably damaging |
Het |
| Vmn1r12 |
G |
A |
6: 57,136,020 (GRCm39) |
G39D |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,751 (GRCm39) |
S693G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,523 (GRCm39) |
L200P |
probably damaging |
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 |
|
R0843:Zc3h3
|
UTSW |
15 |
75,709,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- ACCAACGTCCAGAGAAAGTG -3'
(R):5'- GGTTGTGAGACTGCCCTCATAC -3'
Sequencing Primer
(F):5'- GTGAAACACTAACGTTCGGTGCC -3'
(R):5'- ACTGCCCTCATACAGTCTCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation