Incidental Mutation 'IGL01860:Zcchc4'
ID |
178272 |
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: 0.168)
|
Stock # |
IGL01860
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52965698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 334
(Y334C)
|
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: Y334C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031077 Gene: ENSMUSG00000029179 AA Change: Y334C
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: Y334C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109537 Gene: ENSMUSG00000029179 AA Change: Y334C
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
Cept1 |
A |
G |
3: 106,438,444 (GRCm39) |
|
probably benign |
Het |
Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
Gas2l2 |
G |
A |
11: 83,312,906 (GRCm39) |
T802I |
probably benign |
Het |
Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,861,417 (GRCm39) |
M1051T |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
Kcnc1 |
T |
C |
7: 46,077,554 (GRCm39) |
L452P |
probably damaging |
Het |
Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
Trpv5 |
T |
A |
6: 41,637,229 (GRCm39) |
H419L |
probably damaging |
Het |
Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
possibly damaging |
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 |
IGL00953:Zcchc4
|
APN |
5 |
52,965,638 (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 |
2014-05-07 |