Incidental Mutation 'IGL03079:Zfp810'
ID |
417779 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp810
|
Ensembl Gene |
ENSMUSG00000066829 |
Gene Name |
zinc finger protein 810 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL03079
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
22188044-22218944 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22195423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 7
(E7G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086278]
[ENSMUST00000215202]
|
AlphaFold |
Q99K45 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086278
AA Change: E7G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083459 Gene: ENSMUSG00000066829 AA Change: E7G
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.09e-33 |
SMART |
ZnF_C2H2
|
126 |
148 |
2.44e2 |
SMART |
ZnF_C2H2
|
182 |
204 |
3.07e-1 |
SMART |
ZnF_C2H2
|
210 |
232 |
8.47e-4 |
SMART |
ZnF_C2H2
|
238 |
260 |
6.78e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
6.13e-1 |
SMART |
ZnF_C2H2
|
294 |
316 |
5.06e-2 |
SMART |
ZnF_C2H2
|
322 |
344 |
4.79e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
2.99e-4 |
SMART |
ZnF_C2H2
|
378 |
400 |
1.33e-1 |
SMART |
ZnF_C2H2
|
406 |
428 |
2.75e-3 |
SMART |
ZnF_C2H2
|
434 |
456 |
1.58e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214499
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215202
AA Change: E7G
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
|
Other mutations in Zfp810 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Zfp810
|
APN |
9 |
22,189,605 (GRCm39) |
nonsense |
probably null |
|
IGL03402:Zfp810
|
APN |
9 |
22,190,441 (GRCm39) |
splice site |
probably null |
|
H8562:Zfp810
|
UTSW |
9 |
22,190,387 (GRCm39) |
missense |
probably benign |
0.42 |
R1116:Zfp810
|
UTSW |
9 |
22,190,381 (GRCm39) |
missense |
probably benign |
0.11 |
R1160:Zfp810
|
UTSW |
9 |
22,189,828 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1171:Zfp810
|
UTSW |
9 |
22,190,122 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1393:Zfp810
|
UTSW |
9 |
22,191,810 (GRCm39) |
missense |
probably benign |
|
R1608:Zfp810
|
UTSW |
9 |
22,190,216 (GRCm39) |
missense |
probably benign |
0.00 |
R1644:Zfp810
|
UTSW |
9 |
22,190,324 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1766:Zfp810
|
UTSW |
9 |
22,189,828 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2568:Zfp810
|
UTSW |
9 |
22,190,534 (GRCm39) |
missense |
probably benign |
0.01 |
R3684:Zfp810
|
UTSW |
9 |
22,189,531 (GRCm39) |
missense |
probably benign |
0.01 |
R4002:Zfp810
|
UTSW |
9 |
22,190,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R4134:Zfp810
|
UTSW |
9 |
22,190,369 (GRCm39) |
missense |
probably damaging |
0.97 |
R4135:Zfp810
|
UTSW |
9 |
22,190,369 (GRCm39) |
missense |
probably damaging |
0.97 |
R4334:Zfp810
|
UTSW |
9 |
22,190,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4545:Zfp810
|
UTSW |
9 |
22,190,041 (GRCm39) |
missense |
probably damaging |
0.96 |
R5399:Zfp810
|
UTSW |
9 |
22,190,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5622:Zfp810
|
UTSW |
9 |
22,190,392 (GRCm39) |
missense |
probably benign |
0.00 |
R5643:Zfp810
|
UTSW |
9 |
22,194,467 (GRCm39) |
missense |
probably benign |
0.26 |
R7375:Zfp810
|
UTSW |
9 |
22,201,833 (GRCm39) |
critical splice donor site |
probably null |
|
R7441:Zfp810
|
UTSW |
9 |
22,190,568 (GRCm39) |
nonsense |
probably null |
|
R7809:Zfp810
|
UTSW |
9 |
22,190,278 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8422:Zfp810
|
UTSW |
9 |
22,194,518 (GRCm39) |
nonsense |
probably null |
|
R8526:Zfp810
|
UTSW |
9 |
22,189,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R8719:Zfp810
|
UTSW |
9 |
22,190,571 (GRCm39) |
missense |
probably benign |
0.00 |
R9177:Zfp810
|
UTSW |
9 |
22,189,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9479:Zfp810
|
UTSW |
9 |
22,194,497 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9521:Zfp810
|
UTSW |
9 |
22,190,227 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9683:Zfp810
|
UTSW |
9 |
22,189,799 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2016-08-02 |