Incidental Mutation 'R1296:Zc3h7a'
| ID |
158151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
039362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R1296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10978890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 95
(R95H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120720
(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 damaging
Transcript: ENSMUST00000037633
AA Change: R95H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: R95H
| 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 damaging
Transcript: ENSMUST00000128083
AA Change: R95H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: R95H
| 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 damaging
Transcript: ENSMUST00000130355
AA Change: R95H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120931
Gene: ENSMUSG00000037965
AA Change: R95H
| 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 damaging
Transcript: ENSMUST00000138185
AA Change: R95H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: R95H
| 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 damaging
Transcript: ENSMUST00000140755
AA Change: R95H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: R95H
| 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: ENSMUST00000155340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145457
|
| Meta Mutation Damage Score |
0.9204 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.1%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,754 (GRCm39) |
Q567* |
probably null |
Het |
| Apol11a |
T |
C |
15: 77,395,219 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
| Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
| Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
| Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,780,049 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
| Cntn4 |
G |
T |
6: 106,486,363 (GRCm39) |
G264C |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,052 (GRCm39) |
S1293P |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,658,290 (GRCm39) |
K641E |
probably damaging |
Het |
| Dmd |
A |
T |
X: 82,922,126 (GRCm39) |
K1465N |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,779,675 (GRCm39) |
V403A |
possibly damaging |
Het |
| Frs2 |
C |
T |
10: 116,916,979 (GRCm39) |
C5Y |
probably benign |
Het |
| Gm5174 |
A |
G |
10: 86,492,866 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
| Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
| Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,942,352 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,221,204 (GRCm39) |
I724V |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,613,123 (GRCm39) |
C749Y |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,697,877 (GRCm39) |
D471G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
| Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
| Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,308 (GRCm39) |
T176A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
| Nfyb |
A |
G |
10: 82,586,665 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,522 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
G |
A |
18: 39,620,051 (GRCm39) |
Q79* |
probably null |
Het |
| Nxpe4 |
C |
G |
9: 48,307,793 (GRCm39) |
T299R |
probably benign |
Het |
| Otud4 |
C |
A |
8: 80,400,603 (GRCm39) |
H1105N |
unknown |
Het |
| Pcnx2 |
A |
G |
8: 126,500,572 (GRCm39) |
L1506P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,364,009 (GRCm39) |
H88Q |
probably damaging |
Het |
| Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,011,891 (GRCm39) |
V688D |
probably benign |
Het |
| Rhox2g |
C |
A |
X: 36,824,865 (GRCm39) |
|
probably benign |
Het |
| Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,702,765 (GRCm39) |
|
probably benign |
Het |
| Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
| Siglecf |
A |
T |
7: 43,005,344 (GRCm39) |
R435* |
probably null |
Het |
| Slc23a1 |
C |
T |
18: 35,755,676 (GRCm39) |
V407M |
possibly damaging |
Het |
| Slc6a14 |
G |
A |
X: 21,587,807 (GRCm39) |
V122I |
probably benign |
Het |
| Spdl1 |
T |
A |
11: 34,704,434 (GRCm39) |
E466D |
unknown |
Het |
| Stau2 |
A |
G |
1: 16,510,596 (GRCm39) |
F121L |
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
| Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
| Tap2 |
G |
T |
17: 34,430,889 (GRCm39) |
V330L |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,421,775 (GRCm39) |
L389P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
| Tmprss9 |
G |
T |
10: 80,726,279 (GRCm39) |
A510S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,890,551 (GRCm39) |
C298Y |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,005 (GRCm39) |
L413Q |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,805,675 (GRCm39) |
I2335T |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,484,544 (GRCm39) |
N552S |
possibly damaging |
Het |
| Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,920,039 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,068,697 (GRCm39) |
D138G |
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 |
|
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'- ATGGCCTACGCTTATGCCAAGG -3'
(R):5'- TATCACGGCAGCAGTGCAGTTC -3'
Sequencing Primer
(F):5'- agaaagaaagaaagagagagagagag -3'
(R):5'- TCTGGTTTCAAGAGGCAATTTTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation