Incidental Mutation 'IGL00321:Zc3h3'
| ID |
14911 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h3
|
| Ensembl Gene |
ENSMUSG00000075600 |
| Gene Name |
zinc finger CCCH type containing 3 |
| Synonyms |
Smicl |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75626279-75713764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75651162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 686
(I686T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100538]
|
| AlphaFold |
Q8CHP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100538
AA Change: I686T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098106
Gene: ENSMUSG00000075600
AA Change: I686T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted, other(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,164,001 (GRCm39) |
|
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,249,895 (GRCm39) |
D84E |
probably benign |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,319 (GRCm39) |
S99N |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
A |
7: 3,345,739 (GRCm39) |
P167Q |
possibly damaging |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,502,265 (GRCm39) |
K1029N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
|
| Other mutations in Zc3h3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation