Incidental Mutation 'R8351:Zcchc2'
| ID |
645503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc2
|
| Ensembl Gene |
ENSMUSG00000038866 |
| Gene Name |
zinc finger, CCHC domain containing 2 |
| Synonyms |
9930114B20Rik |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105958662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1044
(N1044K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118196]
[ENSMUST00000119166]
|
| AlphaFold |
Q69ZB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118196
AA Change: N1044K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: N1044K
| 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 damaging
Transcript: ENSMUST00000119166
AA Change: N1044K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: N1044K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188954
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
| Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
| Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
| Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,141 (GRCm39) |
T135A |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,583,181 (GRCm39) |
N365S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
| Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
| Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,335,924 (GRCm39) |
N22S |
possibly damaging |
Het |
| Sugct |
A |
G |
13: 17,427,143 (GRCm39) |
L339P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
| Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
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 |
|
R5522:Zcchc2
|
UTSW |
1 |
105,951,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ACATCAGTGCTGTGGGGAAC -3'
(R):5'- AGAACCACTGGTGTTGGCAAC -3'
Sequencing Primer
(F):5'- CACGAATGCTAACGGGACCATAG -3'
(R):5'- CTACATTAGGTGCTGGATATACAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation