Incidental Mutation 'R6405:Zcchc7'
| ID |
516246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc7
|
| Ensembl Gene |
ENSMUSG00000035649 |
| Gene Name |
zinc finger, CCHC domain containing 7 |
| Synonyms |
4930572I07Rik, D4Wsu132e |
| MMRRC Submission |
044550-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R6405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
44756556-44932215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44926032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 344
(Y344H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107824]
[ENSMUST00000147272]
|
| AlphaFold |
B1AX39 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107823
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107824
AA Change: Y344H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: Y344H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
237 |
253 |
4.13e-3 |
SMART |
|
ZnF_C2HC
|
259 |
275 |
1.51e0 |
SMART |
|
ZnF_C2HC
|
300 |
316 |
1.08e0 |
SMART |
|
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
344 |
360 |
9.16e-2 |
SMART |
|
low complexity region
|
497 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126968
AA Change: Y13H
|
| SMART Domains |
Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649
AA Change: Y13H
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
14 |
30 |
9.16e-2 |
SMART |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147272
AA Change: Y23H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: Y23H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
23 |
39 |
9.16e-2 |
SMART |
|
low complexity region
|
176 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
| Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
| Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
| Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
| Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
| Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
| Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
|
| Other mutations in Zcchc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Zcchc7
|
APN |
4 |
44,931,318 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL00542:Zcchc7
|
APN |
4 |
44,931,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01309:Zcchc7
|
APN |
4 |
44,926,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Zcchc7
|
APN |
4 |
44,929,217 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02186:Zcchc7
|
APN |
4 |
44,762,250 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02395:Zcchc7
|
APN |
4 |
44,761,868 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02423:Zcchc7
|
APN |
4 |
44,931,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03350:Zcchc7
|
APN |
4 |
44,931,188 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0371:Zcchc7
|
UTSW |
4 |
44,762,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Zcchc7
|
UTSW |
4 |
44,929,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2061:Zcchc7
|
UTSW |
4 |
44,895,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Zcchc7
|
UTSW |
4 |
44,931,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4274:Zcchc7
|
UTSW |
4 |
44,931,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4668:Zcchc7
|
UTSW |
4 |
44,895,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Zcchc7
|
UTSW |
4 |
44,931,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Zcchc7
|
UTSW |
4 |
44,762,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5397:Zcchc7
|
UTSW |
4 |
44,926,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5700:Zcchc7
|
UTSW |
4 |
44,931,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5891:Zcchc7
|
UTSW |
4 |
44,895,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Zcchc7
|
UTSW |
4 |
44,931,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5977:Zcchc7
|
UTSW |
4 |
44,894,982 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6005:Zcchc7
|
UTSW |
4 |
44,931,218 (GRCm39) |
frame shift |
probably null |
|
|
R7787:Zcchc7
|
UTSW |
4 |
44,895,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8178:Zcchc7
|
UTSW |
4 |
44,931,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9674:Zcchc7
|
UTSW |
4 |
44,931,418 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTTGTTTCCTGGGCTC -3'
(R):5'- TGCCTCACTACCTTTAGGAGC -3'
Sequencing Primer
(F):5'- GTTTCCTGGGCTCTATCATGAG -3'
(R):5'- CTCACTACCTTTAGGAGCTAAATTTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation