Incidental Mutation 'R5830:Zfp358'
| ID |
449267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp358
|
| Ensembl Gene |
ENSMUSG00000047264 |
| Gene Name |
zinc finger protein 358 |
| Synonyms |
Zfend |
| MMRRC Submission |
043219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
3543138-3547208 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3545846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 143
(V143L)
|
| 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 benign
Transcript: ENSMUST00000061508
AA Change: V143L
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060344
Gene: ENSMUSG00000047264
AA Change: V143L
| 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 benign
Transcript: ENSMUST00000208423
AA Change: V143L
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208739
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec3 |
A |
T |
15: 79,783,268 (GRCm39) |
N115I |
possibly damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,539 (GRCm39) |
S101G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,572 (GRCm39) |
H571N |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,312,016 (GRCm39) |
R99* |
probably null |
Het |
| Cdyl2 |
A |
G |
8: 117,321,823 (GRCm39) |
Y235H |
probably benign |
Het |
| Chmp2a |
T |
C |
7: 12,766,039 (GRCm39) |
D161G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,831,862 (GRCm39) |
W2091R |
unknown |
Het |
| Epha8 |
G |
A |
4: 136,663,701 (GRCm39) |
Q452* |
probably null |
Het |
| Fbn2 |
A |
G |
18: 58,247,541 (GRCm39) |
F451S |
probably benign |
Het |
| Fndc1 |
C |
A |
17: 8,007,918 (GRCm39) |
R72L |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,699,888 (GRCm39) |
E81G |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,200,433 (GRCm39) |
V358A |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,545,548 (GRCm39) |
Y92* |
probably null |
Het |
| Il34 |
A |
G |
8: 111,475,323 (GRCm39) |
V71A |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,427 (GRCm39) |
F416L |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,675,262 (GRCm39) |
S125P |
possibly damaging |
Het |
| Ldb1 |
T |
A |
19: 46,022,557 (GRCm39) |
M307L |
probably benign |
Het |
| Lrr1 |
T |
A |
12: 69,225,445 (GRCm39) |
S374T |
possibly damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,713,274 (GRCm39) |
I412V |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,589 (GRCm39) |
I298V |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,910 (GRCm39) |
F384L |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,542 (GRCm39) |
E51G |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,382 (GRCm39) |
H165Y |
possibly damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,457 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,178,398 (GRCm39) |
F582Y |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,522,023 (GRCm39) |
Y196* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,043,325 (GRCm39) |
M1K |
probably null |
Het |
| Scn7a |
A |
T |
2: 66,544,395 (GRCm39) |
Y365* |
probably null |
Het |
| Sec16a |
A |
T |
2: 26,330,853 (GRCm39) |
D387E |
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,799,945 (GRCm39) |
F127Y |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,399,151 (GRCm39) |
N82K |
probably damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,079,323 (GRCm39) |
N878S |
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 |
|
R6589:Zfp358
|
UTSW |
8 |
3,545,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GATCTGGATCCCATGTCTTCGAG -3'
(R):5'- GCGCAGGTGTTTAAGTAGCG -3'
Sequencing Primer
(F):5'- GGATCCCATGTCTTCGAGTTTCG -3'
(R):5'- ACACACTGGGCACTTGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation