Incidental Mutation 'R7780:Zc3h7a'
| ID |
599197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
045836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10967115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 559
(I559T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041308
(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: I559T
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: I559T
| 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: I559T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: I559T
| 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: I559T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: I559T
| 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 |
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 |
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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
C |
T |
8: 25,294,432 (GRCm39) |
R389K |
possibly damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,746,716 (GRCm39) |
V1205M |
|
Het |
| Ccr3 |
A |
G |
9: 123,828,989 (GRCm39) |
Y108C |
probably benign |
Het |
| Cers5 |
T |
G |
15: 99,637,589 (GRCm39) |
H220P |
probably damaging |
Het |
| Cfap61 |
A |
T |
2: 145,995,692 (GRCm39) |
N1086Y |
possibly damaging |
Het |
| Cip2a |
T |
A |
16: 48,822,023 (GRCm39) |
L217* |
probably null |
Het |
| Clstn3 |
T |
C |
6: 124,439,161 (GRCm39) |
E32G |
probably damaging |
Het |
| Cox20 |
T |
C |
1: 178,149,566 (GRCm39) |
C72R |
probably benign |
Het |
| Csf1 |
A |
T |
3: 107,657,709 (GRCm39) |
N154K |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,118,256 (GRCm39) |
K112N |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,848,172 (GRCm39) |
D488G |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,818,589 (GRCm39) |
K199R |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,305,718 (GRCm39) |
I316T |
probably benign |
Het |
| Evpl |
C |
T |
11: 116,125,000 (GRCm39) |
R154H |
not run |
Het |
| Fbn1 |
A |
G |
2: 125,143,678 (GRCm39) |
L2817P |
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,921,131 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,162,358 (GRCm39) |
D283G |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,167,656 (GRCm39) |
S20T |
probably benign |
Het |
| Fkbp10 |
T |
C |
11: 100,312,048 (GRCm39) |
Y203H |
probably damaging |
Het |
| Galntl6 |
C |
T |
8: 58,880,733 (GRCm39) |
|
probably null |
Het |
| Gask1b |
G |
A |
3: 79,848,711 (GRCm39) |
G486S |
probably damaging |
Het |
| Gm26657 |
C |
A |
4: 56,741,056 (GRCm39) |
Y80* |
probably null |
Het |
| Gm973 |
T |
A |
1: 59,597,289 (GRCm39) |
W440R |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,528,689 (GRCm39) |
F903Y |
probably damaging |
Het |
| Iqcf4 |
T |
A |
9: 106,445,860 (GRCm39) |
I96F |
possibly damaging |
Het |
| Kcnq5 |
T |
A |
1: 22,031,555 (GRCm39) |
Q84L |
probably benign |
Het |
| Krit1 |
G |
A |
5: 3,862,772 (GRCm39) |
G254S |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,510 (GRCm39) |
Y152* |
probably null |
Het |
| Loricrin |
A |
T |
3: 91,988,460 (GRCm39) |
Y275* |
probably null |
Het |
| Map4 |
T |
C |
9: 109,863,720 (GRCm39) |
I315T |
probably benign |
Het |
| Mcpt1 |
T |
A |
14: 56,256,609 (GRCm39) |
|
probably null |
Het |
| Mdh1b |
C |
A |
1: 63,759,133 (GRCm39) |
S153I |
possibly damaging |
Het |
| Mfsd12 |
C |
A |
10: 81,193,718 (GRCm39) |
A96E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,315,697 (GRCm39) |
E55G |
probably benign |
Het |
| Mterf4 |
T |
C |
1: 93,232,689 (GRCm39) |
E54G |
probably benign |
Het |
| Mucl3 |
A |
G |
17: 35,947,874 (GRCm39) |
S452P |
possibly damaging |
Het |
| Nuggc |
T |
A |
14: 65,882,490 (GRCm39) |
I745N |
probably damaging |
Het |
| Or6k6 |
T |
C |
1: 173,945,115 (GRCm39) |
I156V |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,786,910 (GRCm39) |
T93A |
possibly damaging |
Het |
| Parg |
A |
T |
14: 31,930,758 (GRCm39) |
N126I |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,123,987 (GRCm39) |
I728V |
possibly damaging |
Het |
| Pcdha1 |
C |
G |
18: 37,065,511 (GRCm39) |
P725R |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,849 (GRCm39) |
L647M |
probably damaging |
Het |
| Phb2 |
T |
C |
6: 124,692,995 (GRCm39) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,483,610 (GRCm39) |
|
probably null |
Het |
| Pmch |
T |
A |
10: 87,927,113 (GRCm39) |
F39I |
probably benign |
Het |
| Psmd7 |
A |
T |
8: 108,307,920 (GRCm39) |
S188T |
possibly damaging |
Het |
| Pycr2 |
T |
A |
1: 180,733,913 (GRCm39) |
D168E |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,771,692 (GRCm39) |
Y96H |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,184,334 (GRCm39) |
G1511S |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,138 (GRCm39) |
C852* |
probably null |
Het |
| Rexo2 |
T |
C |
9: 48,380,145 (GRCm39) |
N229S |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,941 (GRCm39) |
V622A |
possibly damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,806 (GRCm39) |
S138G |
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,061,059 (GRCm39) |
T2415S |
possibly damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,792,040 (GRCm39) |
N257D |
probably benign |
Het |
| Tbl3 |
A |
G |
17: 24,921,205 (GRCm39) |
F529L |
probably damaging |
Het |
| Them6 |
A |
T |
15: 74,593,427 (GRCm39) |
N95I |
probably benign |
Het |
| Thrb |
T |
C |
14: 18,008,608 (GRCm38) |
S156P |
possibly damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,731 (GRCm39) |
R177C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,660,937 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
A |
8: 72,110,979 (GRCm39) |
I411F |
probably benign |
Het |
| Uqcc1 |
T |
C |
2: 155,752,073 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
T |
C |
7: 5,199,516 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,680 (GRCm39) |
Y542* |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,556,542 (GRCm39) |
L263P |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
| Wfdc16 |
A |
G |
2: 164,477,785 (GRCm39) |
M88T |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,160,403 (GRCm39) |
D679G |
probably damaging |
Het |
| Ykt6 |
T |
C |
11: 5,912,751 (GRCm39) |
I151T |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,033,225 (GRCm39) |
C479R |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,678,283 (GRCm39) |
N3111S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,432 (GRCm39) |
V154A |
possibly damaging |
Het |
| Zfp629 |
A |
T |
7: 127,211,601 (GRCm39) |
D69E |
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,073 (GRCm39) |
I300N |
possibly damaging |
Het |
| Zfp934 |
T |
C |
13: 62,666,358 (GRCm39) |
H106R |
possibly damaging |
Het |
| Zfta |
T |
C |
19: 7,399,737 (GRCm39) |
S495P |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,576,298 (GRCm39) |
T261I |
possibly damaging |
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 |
|
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 |
|
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'- ACTACTATACACGCTGCTCTG -3'
(R):5'- TGCCTCTCCAGATGTTGCTG -3'
Sequencing Primer
(F):5'- TTGTAGGCATGTACCACCAG -3'
(R):5'- CTGCAGATGATGAATGCCGATATCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation