Incidental Mutation 'R0060:Zcchc4'
ID |
201401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc4
|
Ensembl Gene |
ENSMUSG00000029179 |
Gene Name |
zinc finger, CCHC domain containing 4 |
Synonyms |
4930449I23Rik |
MMRRC Submission |
038353-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R0060 (G1)
|
Quality Score |
61 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52964420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 292
(I292N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
AlphaFold |
Q8BKW4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031077
AA Change: I292N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031077 Gene: ENSMUSG00000029179 AA Change: I292N
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 |
possibly damaging
Transcript: ENSMUST00000113904
AA Change: I292N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109537 Gene: ENSMUSG00000029179 AA Change: I292N
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
|
Meta Mutation Damage Score |
0.1101 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Cabcoco1 |
A |
T |
10: 68,369,692 (GRCm39) |
|
probably null |
Het |
Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
Cst11 |
T |
A |
2: 148,612,322 (GRCm39) |
Q105L |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
Pard3b |
G |
A |
1: 61,678,474 (GRCm39) |
E25K |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 42,836,197 (GRCm39) |
Y8* |
probably null |
Het |
Phf14 |
T |
C |
6: 11,953,316 (GRCm39) |
S352P |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Prap1 |
G |
T |
7: 139,673,390 (GRCm39) |
|
probably benign |
Het |
Prdm8 |
T |
A |
5: 98,333,119 (GRCm39) |
F229I |
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,553,936 (GRCm39) |
F11L |
probably benign |
Het |
Rfx8 |
T |
A |
1: 39,757,565 (GRCm39) |
|
probably benign |
Het |
Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
Ripk4 |
G |
A |
16: 97,564,718 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
A |
17: 52,047,231 (GRCm39) |
I695F |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
Tcerg1 |
C |
T |
18: 42,657,073 (GRCm39) |
A185V |
unknown |
Het |
Tep1 |
T |
A |
14: 51,103,486 (GRCm39) |
D268V |
probably damaging |
Het |
Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACCTGCTTATCAAGGAACCCGAAG -3'
(R):5'- TTTACAGAGAGCCCAGAGCTGCAC -3'
Sequencing Primer
(F):5'- ACGTTTTCCAGTGAGACCAG -3'
(R):5'- GCACACTCCGTAACTGCTAGG -3'
|
Posted On |
2014-06-06 |