Incidental Mutation 'R5522:Zcchc2'
| ID |
431587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc2
|
| Ensembl Gene |
ENSMUSG00000038866 |
| Gene Name |
zinc finger, CCHC domain containing 2 |
| Synonyms |
9930114B20Rik |
| MMRRC Submission |
043081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5522 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105951426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 587
(N587S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118196]
[ENSMUST00000119166]
[ENSMUST00000131830]
|
| AlphaFold |
Q69ZB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118196
AA Change: N587S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: N587S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
SCOP:d1gd5a_
|
347 |
451 |
5e-7 |
SMART |
|
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
998 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
1120 |
1136 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119166
AA Change: N587S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: N587S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
SCOP:d1gd5a_
|
347 |
451 |
5e-7 |
SMART |
|
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
998 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
1120 |
1136 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131830
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186983
AA Change: N184S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188954
AA Change: N203S
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 93.9%
- 20x: 85.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,649,704 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,731,671 (GRCm39) |
|
probably null |
Het |
| Cd69 |
A |
T |
6: 129,248,379 (GRCm39) |
S36T |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,449,005 (GRCm39) |
I124L |
probably benign |
Het |
| Cerkl |
T |
C |
2: 79,223,328 (GRCm39) |
H131R |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,453,085 (GRCm39) |
N539K |
probably benign |
Het |
| Cyp4x1 |
C |
A |
4: 114,979,174 (GRCm39) |
W141L |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,993 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
G |
A |
2: 130,656,222 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,296,954 (GRCm39) |
I5781T |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,867 (GRCm39) |
V101E |
probably damaging |
Het |
| Exph5 |
T |
C |
9: 53,285,613 (GRCm39) |
F898S |
possibly damaging |
Het |
| Fyco1 |
G |
A |
9: 123,623,836 (GRCm39) |
R1398* |
probably null |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,886,746 (GRCm39) |
I508V |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,833,258 (GRCm39) |
Q473K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,556,755 (GRCm39) |
D109V |
probably damaging |
Het |
| Ipmk |
C |
A |
10: 71,199,304 (GRCm39) |
T55K |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,087,225 (GRCm39) |
Y192H |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,977,497 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,620 (GRCm39) |
L178Q |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,122,211 (GRCm39) |
K320N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,685,783 (GRCm39) |
L858S |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,464,353 (GRCm39) |
F198Y |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfatc1 |
T |
C |
18: 80,696,744 (GRCm39) |
T647A |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,453 (GRCm39) |
Y433H |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,061,972 (GRCm39) |
V717A |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,484 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,268 (GRCm39) |
L73F |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,798 (GRCm39) |
D16V |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,520 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,402 (GRCm39) |
I108V |
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,710,584 (GRCm39) |
T6S |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,298 (GRCm39) |
V317E |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,708,195 (GRCm39) |
Y406* |
probably null |
Het |
| Scamp3 |
T |
C |
3: 89,084,929 (GRCm39) |
F11L |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,964,146 (GRCm39) |
N142S |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,349 (GRCm39) |
S128P |
probably benign |
Het |
| Snrnp70 |
C |
T |
7: 45,026,601 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,945,816 (GRCm39) |
K596R |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,422,230 (GRCm39) |
|
probably null |
Het |
| Taok3 |
A |
G |
5: 117,411,822 (GRCm39) |
T414A |
probably benign |
Het |
| Tmem104 |
G |
A |
11: 115,079,149 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
T |
A |
8: 112,645,042 (GRCm39) |
S155C |
possibly damaging |
Het |
| Tssk3 |
G |
A |
4: 129,383,343 (GRCm39) |
R110W |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,759 (GRCm39) |
T485A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,613,974 (GRCm39) |
K292E |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,845,497 (GRCm39) |
|
probably null |
Het |
| Usp24 |
T |
A |
4: 106,229,918 (GRCm39) |
V797E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,929 (GRCm39) |
T1872A |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,120 (GRCm39) |
M197V |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,661,718 (GRCm39) |
D578E |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,909,090 (GRCm39) |
Y810* |
probably null |
Het |
| Zfp189 |
C |
T |
4: 49,529,739 (GRCm39) |
R281* |
probably null |
Het |
| Zranb1 |
T |
C |
7: 132,585,678 (GRCm39) |
*735R |
probably null |
Het |
|
| Other mutations in Zcchc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Zcchc2
|
APN |
1 |
105,957,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01339:Zcchc2
|
APN |
1 |
105,957,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Zcchc2
|
APN |
1 |
105,955,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Zcchc2
|
APN |
1 |
105,928,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02864:Zcchc2
|
APN |
1 |
105,943,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Zcchc2
|
APN |
1 |
105,957,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03163:Zcchc2
|
APN |
1 |
105,958,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Zcchc2
|
UTSW |
1 |
105,958,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0200:Zcchc2
|
UTSW |
1 |
105,931,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Zcchc2
|
UTSW |
1 |
105,958,000 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0501:Zcchc2
|
UTSW |
1 |
105,943,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0689:Zcchc2
|
UTSW |
1 |
105,958,234 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Zcchc2
|
UTSW |
1 |
105,958,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2016:Zcchc2
|
UTSW |
1 |
105,931,851 (GRCm39) |
splice site |
probably null |
|
|
R2153:Zcchc2
|
UTSW |
1 |
105,949,453 (GRCm39) |
splice site |
probably null |
|
|
R2175:Zcchc2
|
UTSW |
1 |
105,955,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2999:Zcchc2
|
UTSW |
1 |
105,957,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3113:Zcchc2
|
UTSW |
1 |
105,918,752 (GRCm39) |
missense |
unknown |
|
|
R4571:Zcchc2
|
UTSW |
1 |
105,958,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4670:Zcchc2
|
UTSW |
1 |
105,917,996 (GRCm39) |
unclassified |
probably benign |
|
|
R5067:Zcchc2
|
UTSW |
1 |
105,958,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Zcchc2
|
UTSW |
1 |
105,958,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Zcchc2
|
UTSW |
1 |
105,958,322 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5526:Zcchc2
|
UTSW |
1 |
105,957,984 (GRCm39) |
nonsense |
probably null |
|
|
R5571:Zcchc2
|
UTSW |
1 |
105,951,402 (GRCm39) |
missense |
probably benign |
|
|
R5599:Zcchc2
|
UTSW |
1 |
105,959,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Zcchc2
|
UTSW |
1 |
105,947,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zcchc2
|
UTSW |
1 |
105,917,900 (GRCm39) |
unclassified |
probably benign |
|
|
R6194:Zcchc2
|
UTSW |
1 |
105,918,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Zcchc2
|
UTSW |
1 |
105,957,796 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7089:Zcchc2
|
UTSW |
1 |
105,958,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Zcchc2
|
UTSW |
1 |
105,928,742 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7749:Zcchc2
|
UTSW |
1 |
105,946,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Zcchc2
|
UTSW |
1 |
105,931,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Zcchc2
|
UTSW |
1 |
105,945,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7982:Zcchc2
|
UTSW |
1 |
105,958,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Zcchc2
|
UTSW |
1 |
105,959,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Zcchc2
|
UTSW |
1 |
105,958,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8451:Zcchc2
|
UTSW |
1 |
105,958,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8697:Zcchc2
|
UTSW |
1 |
105,958,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8862:Zcchc2
|
UTSW |
1 |
105,958,998 (GRCm39) |
makesense |
probably null |
|
|
R9133:Zcchc2
|
UTSW |
1 |
105,958,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Zcchc2
|
UTSW |
1 |
105,950,987 (GRCm39) |
missense |
probably benign |
|
|
RF022:Zcchc2
|
UTSW |
1 |
105,939,472 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Zcchc2
|
UTSW |
1 |
105,918,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zcchc2
|
UTSW |
1 |
105,957,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Zcchc2
|
UTSW |
1 |
105,931,866 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGAAGTCAAGCTGTTATGG -3'
(R):5'- ACTGGAAACTGCTGTACATGGC -3'
Sequencing Primer
(F):5'- CAAGCTGTTATGGGGGTAGAGCTC -3'
(R):5'- TGCTGTACATGGCAGGGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation