Incidental Mutation 'R2055:Zc3h7a'
ID |
226627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7a
|
Ensembl Gene |
ENSMUSG00000037965 |
Gene Name |
zinc finger CCCH type containing 7 A |
Synonyms |
A430104C18Rik, Zc3h7 |
MMRRC Submission |
040060-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R2055 (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 10955340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 911
(N911K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000118679]
[ENSMUST00000140755]
[ENSMUST00000155221]
[ENSMUST00000145225]
[ENSMUST00000147884]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037633
AA Change: N911K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000041308 Gene: ENSMUSG00000037965 AA Change: N911K
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 |
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: ENSMUST00000143121
|
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 |
|
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: 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 |
0.0875 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,107 (GRCm39) |
E185G |
probably damaging |
Het |
3425401B19Rik |
A |
G |
14: 32,384,508 (GRCm39) |
S486P |
probably benign |
Het |
A630023A22Rik |
T |
C |
14: 33,774,707 (GRCm39) |
|
probably benign |
Het |
Abca1 |
T |
C |
4: 53,069,881 (GRCm39) |
N1271S |
probably benign |
Het |
AI597479 |
C |
T |
1: 43,150,280 (GRCm39) |
A130V |
probably benign |
Het |
Angptl4 |
A |
G |
17: 33,999,498 (GRCm39) |
|
probably null |
Het |
Arhgef25 |
T |
A |
10: 127,021,004 (GRCm39) |
N294I |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,850,421 (GRCm39) |
V848A |
probably damaging |
Het |
Bard1 |
T |
C |
1: 71,114,031 (GRCm39) |
T317A |
probably benign |
Het |
C1rl |
T |
C |
6: 124,470,781 (GRCm39) |
W30R |
probably benign |
Het |
Cchcr1 |
A |
G |
17: 35,837,317 (GRCm39) |
E379G |
probably damaging |
Het |
Cfap36 |
G |
T |
11: 29,197,122 (GRCm39) |
A3E |
probably damaging |
Het |
Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
Clca4a |
A |
G |
3: 144,676,489 (GRCm39) |
Y64H |
probably damaging |
Het |
Cops5 |
A |
G |
1: 10,102,562 (GRCm39) |
|
probably null |
Het |
Cracr2a |
G |
T |
6: 127,585,564 (GRCm39) |
E121* |
probably null |
Het |
Cstf1 |
A |
G |
2: 172,222,403 (GRCm39) |
E387G |
probably benign |
Het |
D630044L22Rik |
A |
C |
17: 26,180,951 (GRCm39) |
D733E |
probably damaging |
Het |
Dlc1 |
A |
T |
8: 37,060,535 (GRCm39) |
C514S |
probably damaging |
Het |
Dmwd |
G |
T |
7: 18,810,610 (GRCm39) |
R139L |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,958,357 (GRCm39) |
S2709T |
probably benign |
Het |
Dnmt3a |
T |
C |
12: 3,922,859 (GRCm39) |
I154T |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,244,490 (GRCm39) |
N297S |
possibly damaging |
Het |
Ern2 |
A |
T |
7: 121,783,168 (GRCm39) |
V34D |
possibly damaging |
Het |
Erp27 |
A |
G |
6: 136,885,227 (GRCm39) |
|
probably benign |
Het |
F2 |
T |
C |
2: 91,458,787 (GRCm39) |
T508A |
probably benign |
Het |
Fam181b |
A |
G |
7: 92,729,634 (GRCm39) |
T136A |
probably benign |
Het |
Fam227b |
C |
A |
2: 125,942,874 (GRCm39) |
V308L |
probably benign |
Het |
Fbxw20 |
A |
T |
9: 109,050,442 (GRCm39) |
H394Q |
probably damaging |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Glt8d1 |
T |
G |
14: 30,731,693 (GRCm39) |
S111A |
probably benign |
Het |
Gm11146 |
A |
T |
16: 77,391,969 (GRCm39) |
|
probably benign |
Het |
Grip1 |
C |
T |
10: 119,885,416 (GRCm39) |
|
probably benign |
Het |
H2-Q2 |
A |
T |
17: 35,564,247 (GRCm39) |
T334S |
probably benign |
Het |
Hcrtr1 |
A |
G |
4: 130,024,680 (GRCm39) |
V402A |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,268,294 (GRCm39) |
A1130D |
probably benign |
Het |
Hsd17b2 |
T |
C |
8: 118,428,913 (GRCm39) |
L60P |
possibly damaging |
Het |
Htr1f |
A |
T |
16: 64,746,398 (GRCm39) |
I298N |
probably damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,315,095 (GRCm39) |
A775D |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,428,682 (GRCm39) |
T303A |
probably damaging |
Het |
Kiz |
C |
A |
2: 146,733,203 (GRCm39) |
Q460K |
probably benign |
Het |
Krt75 |
C |
T |
15: 101,481,196 (GRCm39) |
V193I |
probably benign |
Het |
Lsp1 |
G |
A |
7: 142,043,144 (GRCm39) |
|
probably null |
Het |
Mfsd12 |
A |
G |
10: 81,196,063 (GRCm39) |
H146R |
probably damaging |
Het |
Mmp23 |
T |
C |
4: 155,736,444 (GRCm39) |
K199R |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,315,880 (GRCm39) |
V300A |
probably benign |
Het |
Nbeal1 |
C |
T |
1: 60,350,216 (GRCm39) |
L2422F |
probably damaging |
Het |
Nbeal2 |
G |
T |
9: 110,464,375 (GRCm39) |
D1094E |
possibly damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,635 (GRCm39) |
E639G |
probably damaging |
Het |
Nr4a3 |
A |
G |
4: 48,067,771 (GRCm39) |
I456V |
possibly damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,673 (GRCm39) |
F166S |
probably damaging |
Het |
Parp9 |
G |
T |
16: 35,773,984 (GRCm39) |
V86L |
probably damaging |
Het |
Phactr1 |
A |
G |
13: 43,231,416 (GRCm39) |
N386S |
probably damaging |
Het |
Pold2 |
A |
T |
11: 5,823,516 (GRCm39) |
Y304* |
probably null |
Het |
Pou5f2 |
A |
G |
13: 78,173,940 (GRCm39) |
Y294C |
probably benign |
Het |
Rars1 |
A |
G |
11: 35,717,410 (GRCm39) |
|
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,606 (GRCm39) |
E526G |
probably benign |
Het |
Sacs |
T |
C |
14: 61,451,498 (GRCm39) |
Y4515H |
probably damaging |
Het |
Sdk2 |
C |
A |
11: 113,741,780 (GRCm39) |
R813L |
probably damaging |
Het |
Six5 |
T |
C |
7: 18,829,154 (GRCm39) |
V198A |
possibly damaging |
Het |
Slco1a7 |
A |
T |
6: 141,671,181 (GRCm39) |
H430Q |
probably benign |
Het |
Spata31e2 |
A |
T |
1: 26,724,813 (GRCm39) |
N122K |
possibly damaging |
Het |
Spn |
A |
G |
7: 126,736,388 (GRCm39) |
S40P |
probably damaging |
Het |
Ssr1 |
A |
G |
13: 38,171,761 (GRCm39) |
|
probably benign |
Het |
Tlr6 |
C |
A |
5: 65,111,269 (GRCm39) |
C546F |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,544,748 (GRCm39) |
|
probably benign |
Het |
Trhr2 |
A |
G |
8: 123,085,532 (GRCm39) |
S151P |
probably damaging |
Het |
Tubb2b |
T |
G |
13: 34,311,708 (GRCm39) |
K362Q |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,643,832 (GRCm39) |
T1211A |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,729 (GRCm39) |
V199A |
possibly damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,475 (GRCm39) |
|
probably benign |
Het |
Vps41 |
T |
A |
13: 19,038,786 (GRCm39) |
N737K |
possibly damaging |
Het |
Vps50 |
T |
A |
6: 3,522,265 (GRCm39) |
N144K |
probably benign |
Het |
Zkscan7 |
T |
A |
9: 122,718,002 (GRCm39) |
S132R |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTCTGATTGGGTTACATAAAAGC -3'
(R):5'- CCGGGCTTACGTTTCCTAAG -3'
Sequencing Primer
(F):5'- GGGTTACATAAAAGCCAGCATATTAC -3'
(R):5'- CAGCTCTGTGGTTAGGAACATGTAC -3'
|
Posted On |
2014-09-17 |