Incidental Mutation 'R0684:Zfp609'
ID |
218630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp609
|
Ensembl Gene |
ENSMUSG00000040524 |
Gene Name |
zinc finger protein 609 |
Synonyms |
|
MMRRC Submission |
038869-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R0684 (G1)
|
Quality Score |
46 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65599673-65734846 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65638483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 250
(M250L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159109]
|
AlphaFold |
Q8BZ47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159109
AA Change: M250L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124089 Gene: ENSMUSG00000040524 AA Change: M250L
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
101 |
N/A |
INTRINSIC |
low complexity region
|
125 |
139 |
N/A |
INTRINSIC |
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
ZnF_C2H2
|
495 |
520 |
2.14e0 |
SMART |
low complexity region
|
629 |
638 |
N/A |
INTRINSIC |
low complexity region
|
657 |
667 |
N/A |
INTRINSIC |
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
low complexity region
|
1000 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1210 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1273 |
N/A |
INTRINSIC |
low complexity region
|
1329 |
1348 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0726 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
Het |
|
Other mutations in Zfp609 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00956:Zfp609
|
APN |
9 |
65,610,045 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01688:Zfp609
|
APN |
9 |
65,611,307 (GRCm39) |
missense |
probably benign |
|
IGL01718:Zfp609
|
APN |
9 |
65,609,682 (GRCm39) |
nonsense |
probably null |
|
IGL01860:Zfp609
|
APN |
9 |
65,610,116 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02441:Zfp609
|
APN |
9 |
65,610,611 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02490:Zfp609
|
APN |
9 |
65,611,250 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02614:Zfp609
|
APN |
9 |
65,610,072 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02794:Zfp609
|
APN |
9 |
65,611,602 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02959:Zfp609
|
APN |
9 |
65,610,675 (GRCm39) |
missense |
probably benign |
|
IGL02967:Zfp609
|
APN |
9 |
65,604,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03036:Zfp609
|
APN |
9 |
65,609,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03182:Zfp609
|
APN |
9 |
65,608,287 (GRCm39) |
missense |
probably benign |
0.02 |
H8441:Zfp609
|
UTSW |
9 |
65,702,169 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0304:Zfp609
|
UTSW |
9 |
65,608,470 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0487:Zfp609
|
UTSW |
9 |
65,609,916 (GRCm39) |
missense |
unknown |
|
R0505:Zfp609
|
UTSW |
9 |
65,610,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1480:Zfp609
|
UTSW |
9 |
65,610,593 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1507:Zfp609
|
UTSW |
9 |
65,702,059 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1579:Zfp609
|
UTSW |
9 |
65,611,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1655:Zfp609
|
UTSW |
9 |
65,610,836 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1692:Zfp609
|
UTSW |
9 |
65,702,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R1701:Zfp609
|
UTSW |
9 |
65,638,282 (GRCm39) |
missense |
probably benign |
0.05 |
R1735:Zfp609
|
UTSW |
9 |
65,610,374 (GRCm39) |
nonsense |
probably null |
|
R1883:Zfp609
|
UTSW |
9 |
65,702,040 (GRCm39) |
missense |
probably benign |
|
R1970:Zfp609
|
UTSW |
9 |
65,702,559 (GRCm39) |
missense |
probably damaging |
0.96 |
R2059:Zfp609
|
UTSW |
9 |
65,611,716 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2302:Zfp609
|
UTSW |
9 |
65,702,179 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3404:Zfp609
|
UTSW |
9 |
65,608,454 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3405:Zfp609
|
UTSW |
9 |
65,608,454 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4514:Zfp609
|
UTSW |
9 |
65,610,977 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4533:Zfp609
|
UTSW |
9 |
65,610,890 (GRCm39) |
missense |
probably benign |
0.00 |
R5043:Zfp609
|
UTSW |
9 |
65,608,109 (GRCm39) |
missense |
probably damaging |
0.97 |
R5499:Zfp609
|
UTSW |
9 |
65,610,137 (GRCm39) |
missense |
probably benign |
0.00 |
R7081:Zfp609
|
UTSW |
9 |
65,609,723 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7514:Zfp609
|
UTSW |
9 |
65,613,418 (GRCm39) |
missense |
probably benign |
0.05 |
R7677:Zfp609
|
UTSW |
9 |
65,604,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7684:Zfp609
|
UTSW |
9 |
65,638,362 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8229:Zfp609
|
UTSW |
9 |
65,610,782 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8266:Zfp609
|
UTSW |
9 |
65,610,996 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8278:Zfp609
|
UTSW |
9 |
65,604,804 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8934:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8938:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8940:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8986:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9267:Zfp609
|
UTSW |
9 |
65,608,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9456:Zfp609
|
UTSW |
9 |
65,611,125 (GRCm39) |
missense |
|
|
R9561:Zfp609
|
UTSW |
9 |
65,604,512 (GRCm39) |
nonsense |
probably null |
|
X0028:Zfp609
|
UTSW |
9 |
65,604,362 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGATGCCTTCAAGGTTGACGC -3'
(R):5'- CTGGAATTCAGGTTCTGTCTGCCTC -3'
Sequencing Primer
(F):5'- CAAGGTTGACGCTGGTTCC -3'
(R):5'- gataggtagacagacagacagatag -3'
|
Posted On |
2014-08-18 |