Incidental Mutation 'IGL01716:Zc3h7a'
ID |
104939 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zc3h7a
|
Ensembl Gene |
ENSMUSG00000037965 |
Gene Name |
zinc finger CCCH type containing 7 A |
Synonyms |
A430104C18Rik, Zc3h7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL01716
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10963580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 714
(C714R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000128083]
[ENSMUST00000138185]
[ENSMUST00000140755]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037633
AA Change: C714R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041308 Gene: ENSMUSG00000037965 AA Change: C714R
Domain | Start | End | E-Value | Type |
PDB:2DBA|A
|
26 |
157 |
9e-7 |
PDB |
Blast:TPR
|
43 |
76 |
1e-7 |
BLAST |
SCOP:d1ihga1
|
46 |
169 |
1e-11 |
SMART |
Blast:TPR
|
124 |
156 |
9e-9 |
BLAST |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
ZnF_C2H2
|
443 |
467 |
1.83e2 |
SMART |
ZnF_C3H1
|
630 |
654 |
1.57e1 |
SMART |
ZnF_C3H1
|
770 |
795 |
8.81e0 |
SMART |
ZnF_C2H2
|
856 |
880 |
1.62e0 |
SMART |
ZnF_C3H1
|
902 |
926 |
1.76e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128083
|
SMART Domains |
Protein: ENSMUSP00000114246 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Pfam:TPR_11
|
41 |
120 |
2.7e-8 |
PFAM |
Blast:TPR
|
124 |
156 |
4e-9 |
BLAST |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
Blast:ZnF_C2H2
|
443 |
467 |
2e-10 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138185
AA Change: C714R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119480 Gene: ENSMUSG00000037965 AA Change: C714R
Domain | Start | End | E-Value | Type |
Pfam:TPR_11
|
41 |
120 |
3.9e-8 |
PFAM |
Blast:TPR
|
124 |
156 |
6e-9 |
BLAST |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
Blast:ZnF_C2H2
|
443 |
467 |
4e-10 |
BLAST |
Blast:ZnF_C3H1
|
628 |
654 |
5e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140755
|
SMART Domains |
Protein: ENSMUSP00000120720 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Pfam:TPR_11
|
41 |
120 |
1e-7 |
PFAM |
Blast:TPR
|
124 |
156 |
5e-9 |
BLAST |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140775
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140898
AA Change: C130R
|
SMART Domains |
Protein: ENSMUSP00000118771 Gene: ENSMUSG00000037965 AA Change: C130R
Domain | Start | End | E-Value | Type |
Blast:ZnF_C3H1
|
45 |
71 |
3e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155343
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
Apba2 |
T |
C |
7: 64,395,574 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
G |
12: 21,304,307 (GRCm39) |
D741G |
possibly damaging |
Het |
Cfap65 |
T |
C |
1: 74,966,353 (GRCm39) |
T325A |
probably benign |
Het |
Cyp2b23 |
A |
T |
7: 26,378,915 (GRCm39) |
V183E |
probably damaging |
Het |
Cyp4f14 |
T |
A |
17: 33,124,470 (GRCm39) |
|
probably benign |
Het |
Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,985,335 (GRCm39) |
I3852T |
probably benign |
Het |
Exoc6 |
T |
A |
19: 37,671,412 (GRCm39) |
S801T |
probably damaging |
Het |
Fancd2os |
T |
C |
6: 113,574,615 (GRCm39) |
I130M |
probably damaging |
Het |
Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
Kif24 |
T |
C |
4: 41,393,454 (GRCm39) |
T1140A |
probably benign |
Het |
Limk2 |
C |
T |
11: 3,308,990 (GRCm39) |
|
probably null |
Het |
Mag |
C |
T |
7: 30,599,812 (GRCm39) |
V576I |
probably benign |
Het |
Mei4 |
C |
T |
9: 81,772,235 (GRCm39) |
A16V |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,538,330 (GRCm39) |
I685T |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,698,277 (GRCm39) |
V256E |
probably damaging |
Het |
Or1a1 |
C |
T |
11: 74,087,207 (GRCm39) |
R293W |
probably benign |
Het |
Or1j20 |
T |
A |
2: 36,759,679 (GRCm39) |
F34I |
probably benign |
Het |
Or9g4b |
A |
T |
2: 85,616,487 (GRCm39) |
I211F |
probably damaging |
Het |
Pcdhb2 |
T |
C |
18: 37,429,791 (GRCm39) |
V588A |
probably damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Pcdhb9 |
T |
A |
18: 37,536,228 (GRCm39) |
S741T |
probably damaging |
Het |
Plekha4 |
C |
A |
7: 45,183,767 (GRCm39) |
S66R |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,336,278 (GRCm39) |
N1492S |
probably benign |
Het |
Rbfox3 |
T |
C |
11: 118,404,115 (GRCm39) |
H28R |
possibly damaging |
Het |
Reep2 |
C |
T |
18: 34,979,302 (GRCm39) |
T209I |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,017 (GRCm39) |
H450R |
possibly damaging |
Het |
Spock3 |
A |
G |
8: 63,808,384 (GRCm39) |
D427G |
unknown |
Het |
Tnfrsf1b |
C |
T |
4: 144,942,493 (GRCm39) |
C430Y |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,691,094 (GRCm39) |
|
probably benign |
Het |
Upp2 |
A |
C |
2: 58,680,058 (GRCm39) |
T295P |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,995 (GRCm39) |
V528A |
probably damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,991,208 (GRCm39) |
S260P |
possibly damaging |
Het |
Zpbp |
A |
T |
11: 11,354,052 (GRCm39) |
S295T |
probably benign |
Het |
|
Other mutations in Zc3h7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00515:Zc3h7a
|
APN |
16 |
10,955,202 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00908:Zc3h7a
|
APN |
16 |
10,963,106 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01087:Zc3h7a
|
APN |
16 |
10,971,046 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01285:Zc3h7a
|
APN |
16 |
10,956,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01453:Zc3h7a
|
APN |
16 |
10,967,242 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01639:Zc3h7a
|
APN |
16 |
10,959,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02059:Zc3h7a
|
APN |
16 |
10,978,862 (GRCm39) |
unclassified |
probably benign |
|
IGL02170:Zc3h7a
|
APN |
16 |
10,964,259 (GRCm39) |
missense |
probably benign |
|
IGL02256:Zc3h7a
|
APN |
16 |
10,965,140 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02904:Zc3h7a
|
APN |
16 |
10,968,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02941:Zc3h7a
|
APN |
16 |
10,976,458 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03198:Zc3h7a
|
APN |
16 |
10,980,528 (GRCm39) |
nonsense |
probably null |
|
IGL03201:Zc3h7a
|
APN |
16 |
10,974,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03302:Zc3h7a
|
APN |
16 |
10,959,574 (GRCm39) |
missense |
probably damaging |
1.00 |
agreement
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably benign |
0.02 |
Clement
|
UTSW |
16 |
10,982,466 (GRCm39) |
nonsense |
probably null |
|
consensus
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Zc3h7a
|
UTSW |
16 |
10,957,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Zc3h7a
|
UTSW |
16 |
10,958,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R0376:Zc3h7a
|
UTSW |
16 |
10,974,066 (GRCm39) |
missense |
probably benign |
0.00 |
R0545:Zc3h7a
|
UTSW |
16 |
10,970,197 (GRCm39) |
unclassified |
probably benign |
|
R0666:Zc3h7a
|
UTSW |
16 |
10,974,167 (GRCm39) |
unclassified |
probably benign |
|
R0831:Zc3h7a
|
UTSW |
16 |
10,969,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R1127:Zc3h7a
|
UTSW |
16 |
10,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R1296:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Zc3h7a
|
UTSW |
16 |
10,980,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Zc3h7a
|
UTSW |
16 |
10,963,117 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1786:Zc3h7a
|
UTSW |
16 |
10,968,469 (GRCm39) |
nonsense |
probably null |
|
R1840:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Zc3h7a
|
UTSW |
16 |
10,965,168 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2055:Zc3h7a
|
UTSW |
16 |
10,955,340 (GRCm39) |
missense |
probably benign |
0.00 |
R2131:Zc3h7a
|
UTSW |
16 |
10,968,469 (GRCm39) |
nonsense |
probably null |
|
R2281:Zc3h7a
|
UTSW |
16 |
10,976,458 (GRCm39) |
unclassified |
probably benign |
|
R2399:Zc3h7a
|
UTSW |
16 |
10,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R2979:Zc3h7a
|
UTSW |
16 |
10,976,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R3915:Zc3h7a
|
UTSW |
16 |
10,974,074 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4078:Zc3h7a
|
UTSW |
16 |
10,969,011 (GRCm39) |
missense |
probably benign |
0.05 |
R4095:Zc3h7a
|
UTSW |
16 |
10,963,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Zc3h7a
|
UTSW |
16 |
10,982,508 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4444:Zc3h7a
|
UTSW |
16 |
10,968,457 (GRCm39) |
critical splice donor site |
probably null |
|
R4739:Zc3h7a
|
UTSW |
16 |
10,959,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5059:Zc3h7a
|
UTSW |
16 |
10,978,985 (GRCm39) |
frame shift |
probably null |
|
R5545:Zc3h7a
|
UTSW |
16 |
10,966,315 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5815:Zc3h7a
|
UTSW |
16 |
10,974,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R5915:Zc3h7a
|
UTSW |
16 |
10,982,466 (GRCm39) |
nonsense |
probably null |
|
R5993:Zc3h7a
|
UTSW |
16 |
10,968,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Zc3h7a
|
UTSW |
16 |
10,965,234 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6459:Zc3h7a
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R6513:Zc3h7a
|
UTSW |
16 |
10,976,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6700:Zc3h7a
|
UTSW |
16 |
10,976,831 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6904:Zc3h7a
|
UTSW |
16 |
10,963,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R6964:Zc3h7a
|
UTSW |
16 |
10,967,088 (GRCm39) |
missense |
probably benign |
0.00 |
R7354:Zc3h7a
|
UTSW |
16 |
10,966,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7667:Zc3h7a
|
UTSW |
16 |
10,956,890 (GRCm39) |
nonsense |
probably null |
|
R7742:Zc3h7a
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably benign |
0.02 |
R7780:Zc3h7a
|
UTSW |
16 |
10,967,115 (GRCm39) |
missense |
probably benign |
0.26 |
R8228:Zc3h7a
|
UTSW |
16 |
10,956,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R8302:Zc3h7a
|
UTSW |
16 |
10,955,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Zc3h7a
|
UTSW |
16 |
10,964,417 (GRCm39) |
intron |
probably benign |
|
R8795:Zc3h7a
|
UTSW |
16 |
10,965,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9060:Zc3h7a
|
UTSW |
16 |
10,969,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |