Incidental Mutation 'R2281:Zc3h7a'
ID |
243160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7a
|
Ensembl Gene |
ENSMUSG00000037965 |
Gene Name |
zinc finger CCCH type containing 7 A |
Synonyms |
A430104C18Rik, Zc3h7 |
MMRRC Submission |
040280-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R2281 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 10976458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000125537]
[ENSMUST00000128083]
[ENSMUST00000128083]
[ENSMUST00000130355]
[ENSMUST00000130355]
[ENSMUST00000138185]
[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: 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: 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 |
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 |
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: ENSMUST00000142389
|
SMART Domains |
Protein: ENSMUSP00000114432 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Blast:TPR
|
43 |
76 |
2e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155255
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
G |
3: 146,352,179 (GRCm39) |
L228S |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,278,136 (GRCm39) |
K3105N |
probably damaging |
Het |
Abca3 |
T |
A |
17: 24,595,700 (GRCm39) |
L351Q |
possibly damaging |
Het |
Acadm |
A |
G |
3: 153,638,680 (GRCm39) |
I231T |
possibly damaging |
Het |
Adamts4 |
A |
T |
1: 171,083,798 (GRCm39) |
Q456L |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,159,222 (GRCm39) |
V343I |
probably benign |
Het |
Ajuba |
C |
A |
14: 54,814,645 (GRCm39) |
G26V |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,597,455 (GRCm39) |
I145M |
possibly damaging |
Het |
Ankrd42 |
G |
A |
7: 92,274,981 (GRCm39) |
Q110* |
probably null |
Het |
Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,549,832 (GRCm39) |
D771G |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,216,896 (GRCm39) |
D21G |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,509,770 (GRCm39) |
N374S |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
Cdh5 |
A |
G |
8: 104,852,365 (GRCm39) |
E160G |
probably damaging |
Het |
Cpd |
T |
C |
11: 76,688,627 (GRCm39) |
K882E |
probably benign |
Het |
Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
Cyp27b1 |
T |
G |
10: 126,884,163 (GRCm39) |
V5G |
probably damaging |
Het |
Dcaf11 |
G |
T |
14: 55,806,828 (GRCm39) |
*550Y |
probably null |
Het |
Dhx58 |
A |
G |
11: 100,588,980 (GRCm39) |
|
probably null |
Het |
Dlg2 |
T |
A |
7: 92,087,249 (GRCm39) |
I881N |
probably damaging |
Het |
Ece1 |
C |
T |
4: 137,673,673 (GRCm39) |
T407M |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
Egln1 |
T |
C |
8: 125,675,153 (GRCm39) |
D214G |
probably benign |
Het |
Espn |
T |
C |
4: 152,220,002 (GRCm39) |
T47A |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,023,289 (GRCm39) |
I1616V |
possibly damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,867,463 (GRCm39) |
K52R |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
Glod4 |
A |
T |
11: 76,128,635 (GRCm39) |
I70N |
possibly damaging |
Het |
Gsn |
T |
A |
2: 35,173,930 (GRCm39) |
V2E |
probably benign |
Het |
H1f2 |
A |
G |
13: 23,922,907 (GRCm39) |
K26E |
probably benign |
Het |
Hrg |
C |
T |
16: 22,780,059 (GRCm39) |
|
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,113,898 (GRCm39) |
T592A |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,941,472 (GRCm39) |
D521G |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,683,410 (GRCm39) |
H2744R |
possibly damaging |
Het |
Lsr |
C |
T |
7: 30,657,770 (GRCm39) |
A397T |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,251,241 (GRCm39) |
M51L |
possibly damaging |
Het |
Mga |
A |
G |
2: 119,734,204 (GRCm39) |
I351V |
probably benign |
Het |
Mlf1 |
G |
A |
3: 67,307,084 (GRCm39) |
V250I |
possibly damaging |
Het |
Mreg |
A |
T |
1: 72,231,223 (GRCm39) |
N78K |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,574,012 (GRCm39) |
D1294G |
probably benign |
Het |
Nfkb1 |
T |
C |
3: 135,307,282 (GRCm39) |
I548V |
probably damaging |
Het |
Nlrp3 |
T |
C |
11: 59,439,962 (GRCm39) |
F513S |
possibly damaging |
Het |
Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
Nr3c2 |
C |
A |
8: 77,636,536 (GRCm39) |
H546N |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,211 (GRCm39) |
M18L |
probably benign |
Het |
Or2y1f |
A |
C |
11: 49,184,459 (GRCm39) |
T104P |
probably benign |
Het |
Or4c109 |
G |
A |
2: 88,817,814 (GRCm39) |
T244I |
probably benign |
Het |
Pclo |
A |
G |
5: 14,590,346 (GRCm39) |
N882S |
unknown |
Het |
Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
Ptger2 |
G |
T |
14: 45,227,107 (GRCm39) |
R229L |
probably damaging |
Het |
Ptpru |
C |
A |
4: 131,535,810 (GRCm39) |
G389V |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,441,851 (GRCm39) |
N249S |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,036,508 (GRCm39) |
I266T |
possibly damaging |
Het |
Smyd1 |
T |
C |
6: 71,215,660 (GRCm39) |
N100D |
probably damaging |
Het |
Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
Stag3 |
T |
C |
5: 138,296,546 (GRCm39) |
F468S |
probably damaging |
Het |
Stk31 |
C |
T |
6: 49,394,184 (GRCm39) |
T182I |
probably damaging |
Het |
Svep1 |
G |
T |
4: 58,082,677 (GRCm39) |
N1982K |
possibly damaging |
Het |
Tinagl1 |
A |
G |
4: 130,060,786 (GRCm39) |
Y344H |
probably damaging |
Het |
Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,429,029 (GRCm39) |
I870T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,302,436 (GRCm39) |
L1035Q |
possibly damaging |
Het |
Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,940,601 (GRCm39) |
|
probably null |
Het |
Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
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 |
R2055:Zc3h7a
|
UTSW |
16 |
10,955,340 (GRCm39) |
missense |
probably benign |
0.00 |
R2131:Zc3h7a
|
UTSW |
16 |
10,968,469 (GRCm39) |
nonsense |
probably null |
|
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'- TGTACAGATAATAACCCTGCCTTG -3'
(R):5'- TGTTGCTCTTTCCAGGATGAAC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CATATGTTAGAGCTGAGGTAAG -3'
|
Posted On |
2014-10-16 |