Incidental Mutation 'R0376:Zc3h7a'
| ID |
30777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
038582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R0376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10974066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 240
(M240V)
|
| 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 benign
Transcript: ENSMUST00000037633
AA Change: M240V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: M240V
| 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
AA Change: M240V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: M240V
| 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
AA Change: M240V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: M240V
| 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
AA Change: M240V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: M240V
| 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: ENSMUST00000145457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155343
|
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
| Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
| Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
| Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
| Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
| Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
| Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
| Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
| H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
| Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
| Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
| Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
| Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
| Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
| Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
| Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
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 |
|
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 |
|
|
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'- GCAAGGCTGGATTGCATC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation