Incidental Mutation 'R8302:Zc3h7a'
| ID |
646467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
067790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R8302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10955249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 942
(K942E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000118679]
[ENSMUST00000140755]
[ENSMUST00000145225]
[ENSMUST00000147884]
[ENSMUST00000155221]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037633
AA Change: K942E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: K942E
| 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: ENSMUST00000038424
|
| SMART Domains |
Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
5.8e-11 |
PFAM |
|
Pfam:Thioredoxin
|
660 |
756 |
1e-11 |
PFAM |
|
coiled coil region
|
793 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118362
|
| SMART Domains |
Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118679
|
| SMART Domains |
Protein: ENSMUSP00000112601
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
4.5e-12 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145225
|
| SMART Domains |
Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
5.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147884
|
| SMART Domains |
Protein: ENSMUSP00000117426
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155221
|
| SMART Domains |
Protein: ENSMUSP00000114777
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,853,406 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
C |
10: 69,840,810 (GRCm39) |
S1937P |
possibly damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,115 (GRCm39) |
D10E |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,879 (GRCm39) |
D103G |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,276,316 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,066 (GRCm39) |
V104A |
probably damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,078 (GRCm39) |
H353L |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,021 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,776 (GRCm39) |
E1619G |
possibly damaging |
Het |
| Frmd5 |
T |
A |
2: 121,378,060 (GRCm39) |
T435S |
unknown |
Het |
| Gm3371 |
T |
C |
14: 44,641,181 (GRCm39) |
R128G |
|
Het |
| Gper1 |
A |
G |
5: 139,412,030 (GRCm39) |
D125G |
probably benign |
Het |
| Il17re |
C |
A |
6: 113,443,280 (GRCm39) |
S340* |
probably null |
Het |
| Kazald1 |
T |
A |
19: 45,065,278 (GRCm39) |
L53Q |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,388 (GRCm39) |
H1731L |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,765,030 (GRCm39) |
S755P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,772 (GRCm39) |
N526S |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,064 (GRCm39) |
I343V |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,511,498 (GRCm39) |
F140L |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,681 (GRCm39) |
S860P |
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,698 (GRCm39) |
Y195N |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,056 (GRCm39) |
L157P |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,116 (GRCm39) |
I100L |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,586,987 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,430 (GRCm39) |
T248S |
possibly damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,933 (GRCm39) |
Y749C |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,163 (GRCm39) |
K93I |
probably damaging |
Het |
| Plpbp |
T |
C |
8: 27,539,216 (GRCm39) |
S109P |
|
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Psma6 |
A |
T |
12: 55,456,966 (GRCm39) |
Y103F |
probably benign |
Het |
| Ptpn3 |
A |
G |
4: 57,218,514 (GRCm39) |
F650L |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,164,094 (GRCm38) |
F562S |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rgs17 |
C |
T |
10: 5,812,525 (GRCm39) |
C58Y |
possibly damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,334 (GRCm39) |
V228E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,105,122 (GRCm39) |
D667G |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,209 (GRCm39) |
V620D |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,249,686 (GRCm39) |
I153T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,847,162 (GRCm39) |
V125A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,058 (GRCm39) |
F216L |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,533,024 (GRCm39) |
I208N |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,545,496 (GRCm39) |
M288T |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trmt2a |
T |
C |
16: 18,067,813 (GRCm39) |
V162A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,078,110 (GRCm39) |
I1167T |
probably benign |
Het |
| Wdr76 |
C |
A |
2: 121,341,044 (GRCm39) |
H30N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,407,923 (GRCm39) |
S3624P |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,810,893 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,091 (GRCm39) |
H59R |
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 |
|
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 |
|
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'- CTCAGGAGGAACGATAGATGCC -3'
(R):5'- CTGCAGAAGATGTATGCAGATCAG -3'
Sequencing Primer
(F):5'- TAGATGCCAATCAAGCAGAAATCTG -3'
(R):5'- GTATGCAGATCAGACACACAGCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation