Incidental Mutation 'R6589:Zfp358'
| ID |
524513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp358
|
| Ensembl Gene |
ENSMUSG00000047264 |
| Gene Name |
zinc finger protein 358 |
| Synonyms |
Zfend |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3543138-3547208 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3545907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 163
(F163Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004683]
[ENSMUST00000061508]
[ENSMUST00000160338]
[ENSMUST00000207318]
[ENSMUST00000208306]
[ENSMUST00000208423]
|
| AlphaFold |
E9Q8M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004683
|
| SMART Domains |
Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
378 |
524 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061508
AA Change: F163Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060344
Gene: ENSMUSG00000047264
AA Change: F163Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
49 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
154 |
176 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
182 |
204 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
1.84e-4 |
SMART |
|
low complexity region
|
422 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160338
|
| SMART Domains |
Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208306
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208423
AA Change: F163Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208739
|
| Meta Mutation Damage Score |
0.4458 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
|
| Other mutations in Zfp358 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01405:Zfp358
|
APN |
8 |
3,545,663 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02301:Zfp358
|
APN |
8 |
3,546,858 (GRCm39) |
missense |
probably benign |
|
|
IGL02510:Zfp358
|
APN |
8 |
3,546,786 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02860:Zfp358
|
APN |
8 |
3,546,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Zfp358
|
UTSW |
8 |
3,546,843 (GRCm39) |
nonsense |
probably null |
|
|
R1960:Zfp358
|
UTSW |
8 |
3,545,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2047:Zfp358
|
UTSW |
8 |
3,545,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Zfp358
|
UTSW |
8 |
3,546,995 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2354:Zfp358
|
UTSW |
8 |
3,545,454 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4688:Zfp358
|
UTSW |
8 |
3,545,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Zfp358
|
UTSW |
8 |
3,546,146 (GRCm39) |
splice site |
probably null |
|
|
R4876:Zfp358
|
UTSW |
8 |
3,546,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5830:Zfp358
|
UTSW |
8 |
3,545,846 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6834:Zfp358
|
UTSW |
8 |
3,545,613 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9043:Zfp358
|
UTSW |
8 |
3,545,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9357:Zfp358
|
UTSW |
8 |
3,545,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTCGACCCAAGCAATG -3'
(R):5'- GCGCAGGTGTTTAAGTAGC -3'
Sequencing Primer
(F):5'- TGACACCCCCAGCCCTG -3'
(R):5'- ACACACTGGGCACTTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation