Incidental Mutation 'R6700:Zc3h7a'
| ID |
528238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| MMRRC Submission |
044818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R6700 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10976831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 155
(Q155R)
|
| 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: Q155R
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: Q155R
| 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: Q155R
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: Q155R
| 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
AA Change: Q155R
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120931
Gene: ENSMUSG00000037965
AA Change: Q155R
| 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: Q155R
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: Q155R
| 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 |
possibly damaging
Transcript: ENSMUST00000140755
AA Change: Q155R
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: Q155R
| 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
|
| Meta Mutation Damage Score |
0.1582 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
| Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
| Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
| Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
| Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
| Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
| Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
| Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
| Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
| Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
| Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
| Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
| Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
| Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
| Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
| Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
| Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
| Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
| St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
| Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
| Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
| Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
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 |
|
|
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 |
|
|
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'- CCTGGAAAGAGCAACATTCATG -3'
(R):5'- TGGGGCCATACATTTGTCTTC -3'
Sequencing Primer
(F):5'- ATGTATCTGTAGTGAAGCAAGTAAGC -3'
(R):5'- GGCCATACATTTGTCTTCATGTATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation