Incidental Mutation 'R8705:Zfp654'
ID |
669248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp654
|
Ensembl Gene |
ENSMUSG00000047141 |
Gene Name |
zinc finger protein 654 |
Synonyms |
Gm5488, 1600021C16Rik, 1810008K20Rik |
MMRRC Submission |
068559-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.723)
|
Stock # |
R8705 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
64600710-64672015 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64605433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 382
(V382A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052588]
[ENSMUST00000207826]
|
AlphaFold |
Q9DAU9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052588
AA Change: V382A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052946 Gene: ENSMUSG00000047141 AA Change: V382A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
25 |
47 |
1.69e-3 |
SMART |
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
ZnF_C2H2
|
197 |
222 |
1.25e-1 |
SMART |
ZnF_C2H2
|
238 |
260 |
4.65e-1 |
SMART |
ZnF_C2H2
|
266 |
290 |
4.98e-1 |
SMART |
ZnF_C2H2
|
295 |
319 |
7.49e0 |
SMART |
ZnF_C2H2
|
534 |
554 |
1.49e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207826
AA Change: V923A
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
G |
T |
13: 4,484,447 (GRCm39) |
G20W |
probably damaging |
Het |
Ces1c |
A |
G |
8: 93,857,518 (GRCm39) |
L21P |
probably benign |
Het |
Col11a2 |
G |
T |
17: 34,268,769 (GRCm39) |
G394V |
unknown |
Het |
Cyp2c70 |
A |
G |
19: 40,168,948 (GRCm39) |
V113A |
probably benign |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Fras1 |
A |
T |
5: 96,839,260 (GRCm39) |
D1593V |
probably benign |
Het |
Frzb |
G |
A |
2: 80,277,241 (GRCm39) |
|
probably benign |
Het |
Gas6 |
T |
C |
8: 13,525,156 (GRCm39) |
D276G |
probably damaging |
Het |
Gdf7 |
C |
T |
12: 8,348,167 (GRCm39) |
E377K |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,753,132 (GRCm39) |
F36L |
possibly damaging |
Het |
Gm40460 |
A |
T |
7: 141,794,734 (GRCm39) |
C28S |
unknown |
Het |
Hnrnpd |
A |
G |
5: 100,111,588 (GRCm39) |
|
probably benign |
Het |
Hsd17b11 |
G |
A |
5: 104,140,703 (GRCm39) |
L265F |
probably benign |
Het |
Hyal6 |
G |
A |
6: 24,734,673 (GRCm39) |
R202H |
probably benign |
Het |
Igkv5-43 |
A |
G |
6: 69,800,592 (GRCm39) |
S32P |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,388,907 (GRCm39) |
Y860C |
probably damaging |
Het |
Krt79 |
G |
A |
15: 101,846,441 (GRCm39) |
T169M |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,820,354 (GRCm39) |
C3296Y |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,148,729 (GRCm39) |
I1200K |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,902,495 (GRCm39) |
Y78* |
probably null |
Het |
Napb |
A |
G |
2: 148,542,396 (GRCm39) |
V188A |
probably benign |
Het |
Neb |
T |
C |
2: 52,148,795 (GRCm39) |
Y2584C |
probably damaging |
Het |
Or52e8 |
T |
C |
7: 104,624,446 (GRCm39) |
I253V |
possibly damaging |
Het |
P4htm |
G |
A |
9: 108,457,240 (GRCm39) |
A381V |
probably damaging |
Het |
Pcdha8 |
T |
A |
18: 37,126,906 (GRCm39) |
F463I |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,775,612 (GRCm39) |
T1030A |
probably damaging |
Het |
Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
Prrc2a |
A |
G |
17: 35,372,542 (GRCm39) |
S1700P |
possibly damaging |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Sf3b5 |
G |
T |
10: 12,884,554 (GRCm39) |
R63L |
probably damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,802,591 (GRCm39) |
L308P |
probably damaging |
Het |
Slc7a2 |
A |
T |
8: 41,368,032 (GRCm39) |
T599S |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,987,012 (GRCm39) |
N184S |
possibly damaging |
Het |
Traf3 |
A |
G |
12: 111,208,938 (GRCm39) |
E119G |
possibly damaging |
Het |
Trim24 |
T |
C |
6: 37,880,588 (GRCm39) |
|
probably benign |
Het |
Ubxn11 |
A |
T |
4: 133,853,551 (GRCm39) |
I368F |
probably damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,207,188 (GRCm39) |
G151D |
probably damaging |
Het |
Wfdc16 |
T |
A |
2: 164,480,395 (GRCm39) |
R33S |
possibly damaging |
Het |
|
Other mutations in Zfp654 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Zfp654
|
APN |
16 |
64,605,004 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02043:Zfp654
|
APN |
16 |
64,605,391 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02205:Zfp654
|
APN |
16 |
64,606,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02337:Zfp654
|
APN |
16 |
64,605,512 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02398:Zfp654
|
APN |
16 |
64,606,381 (GRCm39) |
missense |
probably benign |
0.00 |
R0025:Zfp654
|
UTSW |
16 |
64,605,181 (GRCm39) |
missense |
probably benign |
0.31 |
R0025:Zfp654
|
UTSW |
16 |
64,605,181 (GRCm39) |
missense |
probably benign |
0.31 |
R0193:Zfp654
|
UTSW |
16 |
64,606,051 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1276:Zfp654
|
UTSW |
16 |
64,605,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Zfp654
|
UTSW |
16 |
64,605,491 (GRCm39) |
missense |
probably benign |
0.34 |
R4065:Zfp654
|
UTSW |
16 |
64,606,288 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4872:Zfp654
|
UTSW |
16 |
64,606,145 (GRCm39) |
missense |
probably benign |
0.28 |
R5693:Zfp654
|
UTSW |
16 |
64,606,289 (GRCm39) |
missense |
probably benign |
0.00 |
R6362:Zfp654
|
UTSW |
16 |
64,606,457 (GRCm39) |
nonsense |
probably null |
|
R6483:Zfp654
|
UTSW |
16 |
64,612,310 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6666:Zfp654
|
UTSW |
16 |
64,606,596 (GRCm39) |
missense |
probably benign |
0.25 |
R6852:Zfp654
|
UTSW |
16 |
64,606,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R6917:Zfp654
|
UTSW |
16 |
64,606,834 (GRCm39) |
missense |
probably damaging |
0.98 |
R7289:Zfp654
|
UTSW |
16 |
64,605,523 (GRCm39) |
missense |
probably benign |
|
R7506:Zfp654
|
UTSW |
16 |
64,612,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R7598:Zfp654
|
UTSW |
16 |
64,606,297 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7721:Zfp654
|
UTSW |
16 |
64,606,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R7791:Zfp654
|
UTSW |
16 |
64,603,634 (GRCm39) |
makesense |
probably null |
|
R7884:Zfp654
|
UTSW |
16 |
64,672,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R7966:Zfp654
|
UTSW |
16 |
64,605,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R8361:Zfp654
|
UTSW |
16 |
64,612,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8487:Zfp654
|
UTSW |
16 |
64,606,011 (GRCm39) |
nonsense |
probably null |
|
R9074:Zfp654
|
UTSW |
16 |
64,611,496 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Zfp654
|
UTSW |
16 |
64,606,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGTTCTTGTGATTCAACACTGG -3'
(R):5'- ATCATCTGCACAGCTGAGTG -3'
Sequencing Primer
(F):5'- GATTCAACACTGGGTAAAATAGAACC -3'
(R):5'- CAGCTGAGTGAAGTGGTTCCTAAC -3'
|
Posted On |
2021-04-30 |