Incidental Mutation 'IGL01110:Zfp707'
| ID |
52813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp707
|
| Ensembl Gene |
ENSMUSG00000034429 |
| Gene Name |
zinc finger protein 707 |
| Synonyms |
1500031N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL01110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75840972-75847717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75847044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 292
(C292S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109966]
[ENSMUST00000109967]
[ENSMUST00000182172]
[ENSMUST00000229652]
[ENSMUST00000183130]
|
| AlphaFold |
D3Z445 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109966
AA Change: C359S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105592
Gene: ENSMUSG00000034429
AA Change: C359S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
KRAB
|
39 |
99 |
2.42e-31 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109967
AA Change: C313S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105593
Gene: ENSMUSG00000034429
AA Change: C313S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
53 |
3.59e-16 |
SMART |
|
ZnF_C2H2
|
143 |
165 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
171 |
193 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
227 |
249 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
1.28e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145100
|
| SMART Domains |
Protein: ENSMUSP00000120565
Gene: ENSMUSG00000034429
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
23 |
83 |
2.42e-31 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
9.96e-1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147641
AA Change: C365S
|
| SMART Domains |
Protein: ENSMUSP00000119705
Gene: ENSMUSG00000034429
AA Change: C365S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
KRAB
|
46 |
106 |
2.42e-31 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
1.28e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182172
|
| SMART Domains |
Protein: ENSMUSP00000138510
Gene: ENSMUSG00000098176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
67 |
146 |
9.4e-6 |
PFAM |
|
low complexity region
|
180 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229652
AA Change: C292S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183130
|
| SMART Domains |
Protein: ENSMUSP00000138115
Gene: ENSMUSG00000098176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
67 |
260 |
2.3e-25 |
PFAM |
|
low complexity region
|
265 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
444 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs1 |
G |
A |
19: 4,942,953 (GRCm39) |
S479L |
possibly damaging |
Het |
| Capn6 |
G |
T |
X: 142,590,246 (GRCm39) |
P385H |
probably damaging |
Het |
| Cavin1 |
C |
A |
11: 100,861,300 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,856,012 (GRCm39) |
D684G |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,631,783 (GRCm39) |
|
probably benign |
Het |
| Doc2g |
A |
G |
19: 4,056,577 (GRCm39) |
E321G |
probably damaging |
Het |
| Eef1akmt1 |
A |
C |
14: 57,787,247 (GRCm39) |
F210V |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,353,354 (GRCm39) |
S65P |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,182,218 (GRCm39) |
V72I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,180,207 (GRCm39) |
E650G |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,056,345 (GRCm39) |
L848Q |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,384,921 (GRCm39) |
D243N |
probably benign |
Het |
| Mov10l1 |
G |
T |
15: 88,905,460 (GRCm39) |
V872L |
probably benign |
Het |
| Or8g50 |
T |
C |
9: 39,648,693 (GRCm39) |
V194A |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,265 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,619,069 (GRCm39) |
F25S |
probably damaging |
Het |
| Patj |
A |
C |
4: 98,301,261 (GRCm39) |
N182T |
probably damaging |
Het |
| Pik3r6 |
G |
A |
11: 68,419,652 (GRCm39) |
|
probably null |
Het |
| Ppil6 |
G |
A |
10: 41,374,406 (GRCm39) |
V96I |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,105,125 (GRCm39) |
Q666L |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,819,538 (GRCm39) |
S222P |
probably damaging |
Het |
| Tln2 |
G |
T |
9: 67,157,864 (GRCm39) |
C1158* |
probably null |
Het |
| Zfp956 |
A |
G |
6: 47,940,346 (GRCm39) |
E235G |
probably benign |
Het |
|
| Other mutations in Zfp707 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0505:Zfp707
|
UTSW |
15 |
75,847,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Zfp707
|
UTSW |
15 |
75,846,978 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1389:Zfp707
|
UTSW |
15 |
75,846,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4806:Zfp707
|
UTSW |
15 |
75,845,000 (GRCm39) |
nonsense |
probably null |
|
|
R6810:Zfp707
|
UTSW |
15 |
75,846,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Zfp707
|
UTSW |
15 |
75,841,572 (GRCm39) |
unclassified |
probably benign |
|
|
R7105:Zfp707
|
UTSW |
15 |
75,846,595 (GRCm39) |
missense |
|
|
|
R7124:Zfp707
|
UTSW |
15 |
75,845,398 (GRCm39) |
nonsense |
probably null |
|
|
R7164:Zfp707
|
UTSW |
15 |
75,846,967 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8549:Zfp707
|
UTSW |
15 |
75,846,547 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9124:Zfp707
|
UTSW |
15 |
75,845,468 (GRCm39) |
missense |
|
|
|
R9668:Zfp707
|
UTSW |
15 |
75,847,085 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9758:Zfp707
|
UTSW |
15 |
75,845,418 (GRCm39) |
missense |
|
|
|
Z1177:Zfp707
|
UTSW |
15 |
75,846,963 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-06-21 |
Incidental Mutation