Incidental Mutation 'R4134:Zfp810'
| ID |
314810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp810
|
| Ensembl Gene |
ENSMUSG00000066829 |
| Gene Name |
zinc finger protein 810 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
22188044-22218944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22190369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 180
(K180E)
|
| 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: K180E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: K180E
| 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 |
probably benign
Transcript: ENSMUST00000215202
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ces1g |
T |
C |
8: 94,046,500 (GRCm39) |
T342A |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,521,107 (GRCm39) |
V977A |
probably benign |
Het |
| Cnot11 |
T |
C |
1: 39,576,629 (GRCm39) |
V211A |
probably benign |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
| F2 |
T |
C |
2: 91,459,553 (GRCm39) |
D410G |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,715,430 (GRCm39) |
W38R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,283,968 (GRCm39) |
Q3446L |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,897,296 (GRCm39) |
G1454V |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,513,740 (GRCm39) |
S534P |
probably benign |
Het |
| Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
| Npm2 |
C |
T |
14: 70,885,822 (GRCm39) |
E128K |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,908 (GRCm39) |
D310G |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,491,380 (GRCm39) |
I770F |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,035,630 (GRCm39) |
S216G |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,082,317 (GRCm39) |
H1120Y |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,715,138 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,705 (GRCm39) |
D252G |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,302,600 (GRCm39) |
P1795S |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,308,687 (GRCm39) |
S638P |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,043 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
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 |
|
|
IGL03079:Zfp810
|
APN |
9 |
22,195,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAGAAAGCCTTCCTGCAG -3'
(R):5'- TCATGAGGAAATCCACCGAGGG -3'
Sequencing Primer
(F):5'- ACATTCATAAGGCTTCTCACCGG -3'
(R):5'- ACCGAGGGGCCAAATCCTATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation