Incidental Mutation 'R5815:Zc3h7a'
| ID |
449017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R5815 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10974050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 245
(V245D)
|
| 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: V245D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: V245D
| 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: V245D
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: V245D
| 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 damaging
Transcript: ENSMUST00000138185
AA Change: V245D
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: V245D
| 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 damaging
Transcript: ENSMUST00000140755
AA Change: V245D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: V245D
| 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: ENSMUST00000142844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155340
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
A |
G |
11: 117,726,530 (GRCm39) |
D226G |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,979,215 (GRCm39) |
|
probably null |
Het |
| Aldh1a1 |
C |
A |
19: 20,608,034 (GRCm39) |
D285E |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,599,820 (GRCm39) |
S1549P |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,442,171 (GRCm39) |
S68G |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,906,414 (GRCm39) |
I500N |
probably benign |
Het |
| B3gnt7 |
A |
C |
1: 86,233,510 (GRCm39) |
D135A |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,381,240 (GRCm39) |
L692H |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,064,559 (GRCm39) |
V276E |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,393,970 (GRCm39) |
E2059V |
possibly damaging |
Het |
| Cpxm2 |
C |
A |
7: 131,645,839 (GRCm39) |
G693V |
probably damaging |
Het |
| Crocc |
A |
T |
4: 140,762,507 (GRCm39) |
V661E |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,206 (GRCm39) |
N45I |
probably damaging |
Het |
| Ddx19a |
C |
T |
8: 111,705,781 (GRCm39) |
W223* |
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,416,756 (GRCm39) |
S567Y |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,401,176 (GRCm39) |
N363K |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,578,783 (GRCm39) |
|
probably null |
Het |
| Gpr151 |
G |
A |
18: 42,712,450 (GRCm39) |
T76M |
probably benign |
Het |
| Inhbc |
C |
T |
10: 127,193,318 (GRCm39) |
V233I |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,839 (GRCm39) |
L233F |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,847 (GRCm39) |
V2972A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,612 (GRCm39) |
Q271R |
probably benign |
Het |
| Mia2 |
A |
T |
12: 59,220,892 (GRCm39) |
K1083N |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,453,481 (GRCm39) |
L277R |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,099,341 (GRCm39) |
F1694I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,015 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
T |
C |
13: 21,842,707 (GRCm39) |
Y262C |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,156 (GRCm39) |
T984A |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,708,312 (GRCm39) |
S39G |
probably benign |
Het |
| Pdia3 |
T |
A |
2: 121,266,892 (GRCm39) |
Y467* |
probably null |
Het |
| Ptpn13 |
C |
A |
5: 103,745,556 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,152,431 (GRCm39) |
M2345T |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,602,603 (GRCm39) |
I20N |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,089,981 (GRCm39) |
S289P |
possibly damaging |
Het |
| Scd4 |
A |
T |
19: 44,326,003 (GRCm39) |
H119L |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,574 (GRCm39) |
T27A |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,544,194 (GRCm39) |
I464N |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,686,092 (GRCm39) |
V220E |
probably benign |
Het |
| Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
| Tmf1 |
T |
A |
6: 97,150,364 (GRCm39) |
T448S |
probably benign |
Het |
| Tspan33 |
G |
A |
6: 29,710,688 (GRCm39) |
R87Q |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,326,464 (GRCm39) |
M250L |
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 |
|
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 |
|
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'- TGAAACTCACCATAACAGCATCATTTG -3'
(R):5'- ATATGCCTGCCAGCTTGCC -3'
Sequencing Primer
(F):5'- CATAACAGCATCATTTGTTTCTGGGG -3'
(R):5'- CAGGGCTAGGCTGTGCATATTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation