Incidental Mutation 'R6679:Zfp523'
ID |
527406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp523
|
Ensembl Gene |
ENSMUSG00000024220 |
Gene Name |
zinc finger protein 523 |
Synonyms |
|
MMRRC Submission |
044798-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R6679 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28396136-28424860 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 28421194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 235
(T235M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000073534]
[ENSMUST00000133868]
[ENSMUST00000155030]
|
AlphaFold |
Q8BMU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002318
AA Change: T346M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000002318 Gene: ENSMUSG00000024220 AA Change: T346M
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073534
AA Change: T346M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000073226 Gene: ENSMUSG00000024220 AA Change: T346M
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129522
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133868
AA Change: T235M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123127 Gene: ENSMUSG00000024220 AA Change: T235M
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
ZnF_C2H2
|
84 |
108 |
7.15e-2 |
SMART |
ZnF_C2H2
|
114 |
138 |
3.16e-3 |
SMART |
ZnF_C2H2
|
144 |
168 |
8.47e-4 |
SMART |
ZnF_C2H2
|
174 |
198 |
3.44e-4 |
SMART |
ZnF_C2H2
|
204 |
228 |
1.69e-3 |
SMART |
ZnF_C2H2
|
234 |
257 |
5.06e-2 |
SMART |
low complexity region
|
264 |
285 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151595
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155030
|
SMART Domains |
Protein: ENSMUSP00000117730 Gene: ENSMUSG00000024220
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161275
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
|
Other mutations in Zfp523 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01097:Zfp523
|
APN |
17 |
28,420,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01405:Zfp523
|
APN |
17 |
28,423,480 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02430:Zfp523
|
APN |
17 |
28,414,113 (GRCm39) |
unclassified |
probably benign |
|
R0496:Zfp523
|
UTSW |
17 |
28,419,419 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1533:Zfp523
|
UTSW |
17 |
28,423,473 (GRCm39) |
missense |
probably benign |
0.18 |
R1837:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R1838:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R2023:Zfp523
|
UTSW |
17 |
28,419,978 (GRCm39) |
unclassified |
probably benign |
|
R2104:Zfp523
|
UTSW |
17 |
28,414,190 (GRCm39) |
missense |
probably benign |
0.31 |
R2403:Zfp523
|
UTSW |
17 |
28,414,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R2864:Zfp523
|
UTSW |
17 |
28,421,514 (GRCm39) |
missense |
probably benign |
0.00 |
R4157:Zfp523
|
UTSW |
17 |
28,421,257 (GRCm39) |
missense |
probably benign |
0.06 |
R4214:Zfp523
|
UTSW |
17 |
28,420,003 (GRCm39) |
missense |
probably benign |
0.04 |
R4771:Zfp523
|
UTSW |
17 |
28,420,312 (GRCm39) |
splice site |
probably null |
|
R5869:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably benign |
0.37 |
R5950:Zfp523
|
UTSW |
17 |
28,421,532 (GRCm39) |
missense |
probably benign |
0.06 |
R6443:Zfp523
|
UTSW |
17 |
28,420,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R6694:Zfp523
|
UTSW |
17 |
28,419,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Zfp523
|
UTSW |
17 |
28,420,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Zfp523
|
UTSW |
17 |
28,420,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Zfp523
|
UTSW |
17 |
28,421,562 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9001:Zfp523
|
UTSW |
17 |
28,408,915 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9406:Zfp523
|
UTSW |
17 |
28,416,840 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGTCTCAGTTCTCAGCCC -3'
(R):5'- ATGCTAGATGTCCGGAGAGG -3'
Sequencing Primer
(F):5'- GTCACCAGTCCTGTCCCCAAC -3'
(R):5'- CTAGATGTCCGGAGAGGCTCTG -3'
|
Posted On |
2018-07-23 |