Incidental Mutation 'R0666:Zc3h7a'
ID |
218843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7a
|
Ensembl Gene |
ENSMUSG00000037965 |
Gene Name |
zinc finger CCCH type containing 7 A |
Synonyms |
A430104C18Rik, Zc3h7 |
MMRRC Submission |
038851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R0666 (G1)
|
Quality Score |
34 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 10974167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000125537]
[ENSMUST00000128083]
[ENSMUST00000130355]
[ENSMUST00000138185]
[ENSMUST00000140755]
[ENSMUST00000142389]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037633
|
SMART Domains |
Protein: ENSMUSP00000041308 Gene: ENSMUSG00000037965
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: ENSMUST00000125537
|
SMART Domains |
Protein: ENSMUSP00000122525 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Blast:TPR
|
43 |
76 |
2e-9 |
BLAST |
|
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 benign
Transcript: ENSMUST00000130355
|
SMART Domains |
Protein: ENSMUSP00000120931 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Pfam:TPR_11
|
41 |
120 |
4.4e-9 |
PFAM |
Blast:TPR
|
124 |
156 |
2e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138185
|
SMART Domains |
Protein: ENSMUSP00000119480 Gene: ENSMUSG00000037965
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 |
noncoding transcript
Transcript: ENSMUST00000145457
|
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: ENSMUST00000142844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142389
|
SMART Domains |
Protein: ENSMUSP00000114432 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Blast:TPR
|
43 |
76 |
2e-9 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (89/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
A |
12: 52,958,591 (GRCm39) |
V782E |
probably damaging |
Het |
Atg9a |
A |
G |
1: 75,161,734 (GRCm39) |
L604P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,689,974 (GRCm39) |
I482V |
probably benign |
Het |
Bltp2 |
T |
G |
11: 78,178,813 (GRCm39) |
M2026R |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,168,038 (GRCm39) |
L1491* |
probably null |
Het |
Ccdc18 |
T |
G |
5: 108,311,530 (GRCm39) |
V412G |
probably benign |
Het |
Ccn6 |
T |
C |
10: 39,027,285 (GRCm39) |
R316G |
probably benign |
Het |
Cct6a |
A |
G |
5: 129,871,449 (GRCm39) |
|
noncoding transcript |
Het |
Clpx |
A |
G |
9: 65,217,507 (GRCm39) |
N25S |
probably damaging |
Het |
Cnpy2 |
T |
A |
10: 128,162,894 (GRCm39) |
C171* |
probably null |
Het |
Cntnap3 |
C |
T |
13: 64,905,211 (GRCm39) |
D857N |
probably damaging |
Het |
Col5a1 |
A |
G |
2: 27,922,697 (GRCm39) |
Y255C |
probably damaging |
Het |
Coro7 |
A |
T |
16: 4,449,775 (GRCm39) |
F638Y |
possibly damaging |
Het |
Cpd |
A |
G |
11: 76,673,153 (GRCm39) |
F1331L |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,119,063 (GRCm39) |
I1842N |
possibly damaging |
Het |
Dgkg |
T |
A |
16: 22,381,480 (GRCm39) |
D490V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,976,284 (GRCm39) |
M1255K |
probably benign |
Het |
E2f1 |
A |
G |
2: 154,402,849 (GRCm39) |
V306A |
probably benign |
Het |
Entpd1 |
A |
G |
19: 40,648,350 (GRCm39) |
|
probably benign |
Het |
Esrrb |
T |
A |
12: 86,552,676 (GRCm39) |
I222N |
probably benign |
Het |
Flt4 |
G |
T |
11: 49,516,274 (GRCm39) |
A126S |
possibly damaging |
Het |
Galnt11 |
C |
T |
5: 25,457,145 (GRCm39) |
T237I |
possibly damaging |
Het |
Galnt2l |
A |
T |
8: 122,997,727 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,250,983 (GRCm39) |
|
probably benign |
Het |
H2-T9 |
T |
C |
17: 36,438,726 (GRCm39) |
T222A |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,392,170 (GRCm39) |
|
probably benign |
Het |
Hsph1 |
T |
C |
5: 149,554,967 (GRCm39) |
Y105C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,411,664 (GRCm39) |
T358A |
probably benign |
Het |
Il2ra |
C |
T |
2: 11,647,884 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
G |
T |
2: 90,744,459 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,781,255 (GRCm39) |
|
probably benign |
Het |
Kng2 |
A |
G |
16: 22,815,872 (GRCm39) |
|
probably benign |
Het |
Lap3 |
C |
T |
5: 45,669,270 (GRCm39) |
T473I |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,641,273 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,366,696 (GRCm39) |
N534D |
possibly damaging |
Het |
Mtg1 |
G |
A |
7: 139,724,257 (GRCm39) |
V122I |
probably benign |
Het |
Myadm |
T |
A |
7: 3,345,865 (GRCm39) |
I209K |
probably damaging |
Het |
Ntsr2 |
G |
A |
12: 16,703,981 (GRCm39) |
V75I |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,212 (GRCm39) |
S236T |
probably damaging |
Het |
Or8u10 |
G |
A |
2: 85,915,557 (GRCm39) |
A188V |
probably benign |
Het |
Pfn1 |
T |
C |
11: 70,545,192 (GRCm39) |
T39A |
probably benign |
Het |
Pipox |
T |
A |
11: 77,774,651 (GRCm39) |
K144M |
probably benign |
Het |
Plekhh1 |
G |
A |
12: 79,115,889 (GRCm39) |
E811K |
probably damaging |
Het |
Pnpla3 |
T |
A |
15: 84,063,506 (GRCm39) |
W295R |
probably benign |
Het |
Prkacb |
T |
A |
3: 146,457,273 (GRCm39) |
T136S |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,161,124 (GRCm39) |
N473I |
probably benign |
Het |
Rbp4 |
G |
A |
19: 38,106,908 (GRCm39) |
T127M |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rps3a1 |
G |
A |
3: 86,045,424 (GRCm39) |
|
probably benign |
Het |
Scg3 |
G |
T |
9: 75,551,222 (GRCm39) |
Y429* |
probably null |
Het |
Shisal2b |
G |
T |
13: 104,994,862 (GRCm39) |
T95K |
possibly damaging |
Het |
Spag5 |
T |
C |
11: 78,204,222 (GRCm39) |
S492P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,934,238 (GRCm39) |
M540K |
probably damaging |
Het |
Stxbp3 |
C |
A |
3: 108,712,618 (GRCm39) |
V281F |
possibly damaging |
Het |
Sun5 |
A |
G |
2: 153,700,968 (GRCm39) |
V242A |
possibly damaging |
Het |
Susd5 |
G |
T |
9: 113,924,852 (GRCm39) |
R245L |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,969,787 (GRCm39) |
E954G |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,708 (GRCm39) |
V536E |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 133,032,405 (GRCm39) |
I118V |
probably benign |
Het |
Tbx18 |
C |
A |
9: 87,606,462 (GRCm39) |
V228L |
probably benign |
Het |
Tdrd9 |
T |
A |
12: 111,974,014 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
C |
A |
10: 78,586,381 (GRCm39) |
L223F |
probably benign |
Het |
Tg |
T |
C |
15: 66,609,370 (GRCm39) |
M310T |
probably benign |
Het |
Ticam2 |
T |
A |
18: 46,693,718 (GRCm39) |
D123V |
probably damaging |
Het |
Timm23 |
A |
G |
14: 31,920,993 (GRCm39) |
|
probably benign |
Het |
Tinag |
C |
T |
9: 76,912,969 (GRCm39) |
R280H |
probably benign |
Het |
Topbp1 |
G |
A |
9: 103,186,011 (GRCm39) |
R51K |
probably benign |
Het |
Tor1b |
A |
G |
2: 30,843,925 (GRCm39) |
I121V |
probably damaging |
Het |
Tpmt |
C |
A |
13: 47,185,930 (GRCm39) |
G148V |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,548 (GRCm39) |
E410G |
probably damaging |
Het |
Ubash3b |
C |
A |
9: 40,958,360 (GRCm39) |
V7L |
possibly damaging |
Het |
Ube2o |
C |
T |
11: 116,433,661 (GRCm39) |
E686K |
probably damaging |
Het |
Unc13d |
T |
A |
11: 115,960,318 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
T |
7: 23,754,601 (GRCm39) |
M135L |
probably benign |
Het |
Xkr8 |
T |
C |
4: 132,459,649 (GRCm39) |
Y43C |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,168,697 (GRCm39) |
N935K |
unknown |
Het |
Zfp84 |
C |
T |
7: 29,476,276 (GRCm39) |
H323Y |
probably damaging |
Het |
Zfp873 |
G |
T |
10: 81,896,595 (GRCm39) |
S442I |
possibly damaging |
Het |
Zfp938 |
A |
G |
10: 82,061,606 (GRCm39) |
L338P |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTGGGGCAGAATCAAGAAGAGC -3'
(R):5'- TCCCTCTGAAATATGCCTGCCAGC -3'
Sequencing Primer
(F):5'- GAGCATCTATTTCATCCCCAAGG -3'
(R):5'- ATATGCCTGCCAGCTTGCC -3'
|
Posted On |
2014-08-21 |