Incidental Mutation 'R0545:Zc3h7a'
| ID |
44788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
038737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R0545 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 10970197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000128083]
[ENSMUST00000130355]
[ENSMUST00000138185]
[ENSMUST00000140755]
|
| 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: 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 |
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: ENSMUST00000155340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145457
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,311,025 (GRCm39) |
N63D |
probably damaging |
Het |
| Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
| BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
| Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
| Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
| Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
| Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,381,278 (GRCm39) |
D512V |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,582,165 (GRCm39) |
N352I |
probably damaging |
Het |
| Cyp2c69 |
A |
C |
19: 39,875,105 (GRCm39) |
L16R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
| F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
| Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
| Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
| Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
| Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,497,276 (GRCm39) |
T182A |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
| Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
| Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
| Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
| Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
| Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
| Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
| Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
| Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
| Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
| Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
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 |
|
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 |
|
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'- TCTACAGCAGGGTCTACTGAACAGG -3'
(R):5'- TGCGTAGGCATGGGAATGTCAC -3'
Sequencing Primer
(F):5'- CAGGGTCTACTGAACAGGACTAAG -3'
(R):5'- ttaataactTTTAGACTTGGTTGGGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation