Incidental Mutation 'R6443:Zfp523'
| ID |
519108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp523
|
| Ensembl Gene |
ENSMUSG00000024220 |
| Gene Name |
zinc finger protein 523 |
| Synonyms |
|
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
142.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28396136-28424860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28420381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 189
(T189S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000073534]
[ENSMUST00000133868]
[ENSMUST00000155030]
|
| AlphaFold |
Q8BMU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002318
AA Change: T300S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: T300S
| 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 damaging
Transcript: ENSMUST00000073534
AA Change: T300S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: T300S
| 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: T189S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220
AA Change: T189S
| 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
|
| Meta Mutation Damage Score |
0.3383 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly 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 |
|
R6679:Zfp523
|
UTSW |
17 |
28,421,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCAGATTGAGGCCCAGAGC -3'
(R):5'- GTGAGACAGCATTTGGGGTAC -3'
Sequencing Primer
(F):5'- AGAGCTGTCCTTTCTTGCTCTGG -3'
(R):5'- GTACCCACCCCTGCCCAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation