Incidental Mutation 'R4078:Zc3h7a'
ID |
316715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7a
|
Ensembl Gene |
ENSMUSG00000037965 |
Gene Name |
zinc finger CCCH type containing 7 A |
Synonyms |
A430104C18Rik, Zc3h7 |
MMRRC Submission |
041623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R4078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10969011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 450
(V450E)
|
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 benign
Transcript: ENSMUST00000037633
AA Change: V450E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000041308 Gene: ENSMUSG00000037965 AA Change: V450E
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 |
probably benign
Transcript: ENSMUST00000128083
AA Change: V450E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000114246 Gene: ENSMUSG00000037965 AA Change: V450E
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 benign
Transcript: ENSMUST00000138185
AA Change: V450E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000119480 Gene: ENSMUSG00000037965 AA Change: V450E
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: ENSMUST00000139391
|
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 |
noncoding transcript
Transcript: ENSMUST00000155343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140898
|
SMART Domains |
Protein: ENSMUSP00000118771 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Blast:ZnF_C3H1
|
45 |
71 |
3e-10 |
BLAST |
|
Meta Mutation Damage Score |
0.0629 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
T |
9: 46,215,359 (GRCm39) |
L367* |
probably null |
Het |
Agfg1 |
T |
A |
1: 82,860,008 (GRCm39) |
S312T |
possibly damaging |
Het |
Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
Ambp |
T |
A |
4: 63,068,680 (GRCm39) |
K112N |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,807,119 (GRCm39) |
S102P |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cabs1 |
G |
A |
5: 88,128,161 (GRCm39) |
E271K |
probably damaging |
Het |
Car8 |
T |
C |
4: 8,169,731 (GRCm39) |
K259R |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdh4 |
A |
G |
2: 179,530,966 (GRCm39) |
E616G |
possibly damaging |
Het |
Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,540,128 (GRCm39) |
D975G |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,142,669 (GRCm39) |
R119L |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,790,059 (GRCm39) |
N918S |
unknown |
Het |
Colec11 |
T |
C |
12: 28,645,246 (GRCm39) |
N142D |
possibly damaging |
Het |
Cox7a2 |
G |
A |
9: 79,665,852 (GRCm39) |
Q10* |
probably null |
Het |
Cyp2b23 |
C |
A |
7: 26,372,517 (GRCm39) |
G366V |
probably damaging |
Het |
Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
Emsy |
G |
A |
7: 98,239,932 (GRCm39) |
P1108S |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
Fam151a |
G |
A |
4: 106,604,954 (GRCm39) |
G439S |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,442,159 (GRCm39) |
P1154S |
probably damaging |
Het |
Fat4 |
G |
A |
3: 39,034,169 (GRCm39) |
S2607N |
probably damaging |
Het |
Fzd7 |
T |
A |
1: 59,522,948 (GRCm39) |
M277K |
possibly damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Gm38706 |
G |
T |
6: 130,460,700 (GRCm39) |
|
noncoding transcript |
Het |
Gm9758 |
T |
A |
5: 14,961,536 (GRCm39) |
|
probably null |
Het |
Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
Heatr9 |
C |
A |
11: 83,403,254 (GRCm39) |
K428N |
probably benign |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,495 (GRCm39) |
K591R |
possibly damaging |
Het |
Khdrbs2 |
T |
C |
1: 32,558,895 (GRCm39) |
|
probably benign |
Het |
Lpp |
G |
A |
16: 24,500,611 (GRCm39) |
R141H |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
Mipep |
T |
A |
14: 61,083,926 (GRCm39) |
Y606N |
probably damaging |
Het |
Mroh5 |
C |
A |
15: 73,657,889 (GRCm39) |
C547F |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,622,153 (GRCm39) |
W363R |
probably damaging |
Het |
Nphs1 |
T |
A |
7: 30,166,945 (GRCm39) |
Y717* |
probably null |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Optc |
T |
C |
1: 133,826,087 (GRCm39) |
H270R |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
Or2l5 |
T |
A |
16: 19,333,982 (GRCm39) |
M135L |
possibly damaging |
Het |
Or5p80 |
T |
A |
7: 108,230,114 (GRCm39) |
M305K |
probably benign |
Het |
Or9r7 |
G |
A |
10: 129,962,587 (GRCm39) |
T113I |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,612,608 (GRCm39) |
|
probably benign |
Het |
Pms1 |
A |
T |
1: 53,306,948 (GRCm39) |
|
probably null |
Het |
Pramel51 |
T |
A |
12: 88,142,683 (GRCm39) |
I312F |
probably benign |
Het |
Prkg1 |
T |
C |
19: 31,562,978 (GRCm39) |
Y156C |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,078,777 (GRCm39) |
H304L |
probably benign |
Het |
Stox1 |
C |
T |
10: 62,501,810 (GRCm39) |
C250Y |
probably benign |
Het |
Sult2a3 |
A |
G |
7: 13,855,662 (GRCm39) |
W65R |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,082,398 (GRCm39) |
T4857K |
probably damaging |
Het |
Tcp1 |
T |
C |
17: 13,136,970 (GRCm39) |
L64S |
probably benign |
Het |
Thap11 |
G |
T |
8: 106,582,548 (GRCm39) |
E186* |
probably null |
Het |
Tmem67 |
A |
G |
4: 12,040,633 (GRCm39) |
|
probably null |
Het |
Trappc10 |
T |
C |
10: 78,046,216 (GRCm39) |
Y458C |
probably damaging |
Het |
Ufd1 |
A |
G |
16: 18,644,528 (GRCm39) |
Y197C |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
G |
17: 47,985,674 (GRCm39) |
T245A |
probably damaging |
Het |
Washc1 |
A |
T |
17: 66,424,156 (GRCm39) |
E289D |
probably benign |
Het |
Zcchc17 |
T |
G |
4: 130,223,418 (GRCm39) |
I123L |
possibly damaging |
Het |
Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
IGL01716:Zc3h7a
|
APN |
16 |
10,963,580 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGCCGAAATGATCTCAAG -3'
(R):5'- TTGCAGATGAATGGACCAGG -3'
Sequencing Primer
(F):5'- CTCAAGAGGAAATCTAACTGCTCATG -3'
(R):5'- ACCAGGTAATTTGTTGGCCTC -3'
|
Posted On |
2015-05-15 |