Incidental Mutation 'IGL00953:Zcchc4'
| ID |
27471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL00953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52965638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 314
(F314S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031077
AA Change: F314S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: F314S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.9e-19 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
337 |
5.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113901
|
| SMART Domains |
Protein: ENSMUSP00000109534
Gene: ENSMUSG00000029179
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
226 |
242 |
1.27e-2 |
SMART |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113904
AA Change: F314S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: F314S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.4e-17 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
338 |
7.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149612
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
| Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
| Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
| Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
| Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
| Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
| Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
| Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
| Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
| Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Zcchc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Zcchc4
|
APN |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01860:Zcchc4
|
APN |
5 |
52,965,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Zcchc4
|
APN |
5 |
52,953,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Zcchc4
|
APN |
5 |
52,965,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0573:Zcchc4
|
UTSW |
5 |
52,953,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Zcchc4
|
UTSW |
5 |
52,940,550 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1353:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1791:Zcchc4
|
UTSW |
5 |
52,953,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Zcchc4
|
UTSW |
5 |
52,973,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Zcchc4
|
UTSW |
5 |
52,953,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Zcchc4
|
UTSW |
5 |
52,953,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Zcchc4
|
UTSW |
5 |
52,961,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Zcchc4
|
UTSW |
5 |
52,941,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Zcchc4
|
UTSW |
5 |
52,941,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Zcchc4
|
UTSW |
5 |
52,953,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4772:Zcchc4
|
UTSW |
5 |
52,953,549 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4905:Zcchc4
|
UTSW |
5 |
52,953,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Zcchc4
|
UTSW |
5 |
52,976,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Zcchc4
|
UTSW |
5 |
52,953,952 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5371:Zcchc4
|
UTSW |
5 |
52,942,512 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5401:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5755:Zcchc4
|
UTSW |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Zcchc4
|
UTSW |
5 |
52,953,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Zcchc4
|
UTSW |
5 |
52,940,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6465:Zcchc4
|
UTSW |
5 |
52,976,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6906:Zcchc4
|
UTSW |
5 |
52,980,976 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7019:Zcchc4
|
UTSW |
5 |
52,941,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Zcchc4
|
UTSW |
5 |
52,942,510 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7643:Zcchc4
|
UTSW |
5 |
52,965,635 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8097:Zcchc4
|
UTSW |
5 |
52,953,333 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8158:Zcchc4
|
UTSW |
5 |
52,973,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Zcchc4
|
UTSW |
5 |
52,953,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Zcchc4
|
UTSW |
5 |
52,976,741 (GRCm39) |
intron |
probably benign |
|
|
R8755:Zcchc4
|
UTSW |
5 |
52,976,724 (GRCm39) |
missense |
unknown |
|
|
R9414:Zcchc4
|
UTSW |
5 |
52,953,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9530:Zcchc4
|
UTSW |
5 |
52,953,568 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation