Incidental Mutation 'R4334:Zfp810'
| ID |
323698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp810
|
| Ensembl Gene |
ENSMUSG00000066829 |
| Gene Name |
zinc finger protein 810 |
| Synonyms |
|
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4334 (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 22190080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 276
(Y276C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086278]
[ENSMUST00000215202]
|
| AlphaFold |
Q99K45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086278
AA Change: Y276C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: Y276C
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly 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 |
|
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 |
|
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'- AACGGACTTATTAAGTATTACCCTGCT -3'
(R):5'- ACTGCAAGTCTCACCTCAC -3'
Sequencing Primer
(F):5'- ACTCGGGACATTCATATGGC -3'
(R):5'- TGCAGGAAGGCTTTCTACAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation