Incidental Mutation 'IGL02994:Zfp710'
| ID |
407049 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp710
|
| Ensembl Gene |
ENSMUSG00000048897 |
| Gene Name |
zinc finger protein 710 |
| Synonyms |
5430400N05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
IGL02994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79674581-79742498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79731581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 253
(S253P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049680]
[ENSMUST00000164056]
[ENSMUST00000166250]
[ENSMUST00000206039]
[ENSMUST00000206104]
|
| AlphaFold |
Q3U288 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049680
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050577
Gene: ENSMUSG00000048897
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
297 |
319 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
577 |
600 |
3.69e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164056
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132361
Gene: ENSMUSG00000048897
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
297 |
319 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
577 |
600 |
3.69e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166250
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129357
Gene: ENSMUSG00000048897
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
297 |
319 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
577 |
600 |
3.69e-4 |
SMART |
|
low complexity region
|
614 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206039
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
| Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
| Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
| Arl13b |
T |
A |
16: 62,632,366 (GRCm39) |
I76F |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
| Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
| Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
| H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,252,112 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
| Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
| Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,113,232 (GRCm39) |
T430K |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,210 (GRCm39) |
S180P |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
| Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
| Ubox5 |
A |
C |
2: 130,442,237 (GRCm39) |
L150R |
probably benign |
Het |
|
| Other mutations in Zfp710 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Zfp710
|
APN |
7 |
79,730,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01623:Zfp710
|
APN |
7 |
79,730,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02630:Zfp710
|
APN |
7 |
79,731,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0147:Zfp710
|
UTSW |
7 |
79,731,721 (GRCm39) |
nonsense |
probably null |
|
|
R0462:Zfp710
|
UTSW |
7 |
79,740,089 (GRCm39) |
makesense |
probably null |
|
|
R1488:Zfp710
|
UTSW |
7 |
79,731,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Zfp710
|
UTSW |
7 |
79,731,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5912:Zfp710
|
UTSW |
7 |
79,731,222 (GRCm39) |
missense |
probably benign |
|
|
R6387:Zfp710
|
UTSW |
7 |
79,735,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Zfp710
|
UTSW |
7 |
79,731,788 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7511:Zfp710
|
UTSW |
7 |
79,732,250 (GRCm39) |
nonsense |
probably null |
|
|
R7813:Zfp710
|
UTSW |
7 |
79,730,859 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7979:Zfp710
|
UTSW |
7 |
79,738,327 (GRCm39) |
missense |
unknown |
|
|
R8165:Zfp710
|
UTSW |
7 |
79,735,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9128:Zfp710
|
UTSW |
7 |
79,731,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Zfp710
|
UTSW |
7 |
79,731,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Zfp710
|
UTSW |
7 |
79,731,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9593:Zfp710
|
UTSW |
7 |
79,730,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation