Incidental Mutation 'R4564:Zfp346'
| ID |
343256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp346
|
| Ensembl Gene |
ENSMUSG00000021481 |
| Gene Name |
zinc finger protein 346 |
| Synonyms |
|
| MMRRC Submission |
041789-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R4564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55253124-55282638 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55261520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 103
(R103S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021937]
[ENSMUST00000159147]
[ENSMUST00000159278]
[ENSMUST00000160660]
[ENSMUST00000161315]
[ENSMUST00000162428]
[ENSMUST00000162476]
[ENSMUST00000161551]
|
| AlphaFold |
Q9R0B7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021937
AA Change: R103S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021937
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
ZnF_U1
|
131 |
165 |
5.22e-7 |
SMART |
|
ZnF_C2H2
|
134 |
158 |
4.98e-1 |
SMART |
|
ZnF_U1
|
182 |
216 |
1.87e-8 |
SMART |
|
ZnF_C2H2
|
185 |
209 |
1.51e1 |
SMART |
|
ZnF_U1
|
236 |
270 |
1.99e-3 |
SMART |
|
ZnF_C2H2
|
239 |
263 |
3.47e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159147
|
| SMART Domains |
Protein: ENSMUSP00000124107
Gene: ENSMUSG00000021481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
Pfam:zf-met
|
73 |
96 |
3.3e-5 |
PFAM |
|
ZnF_U1
|
99 |
133 |
5.22e-7 |
SMART |
|
ZnF_C2H2
|
102 |
126 |
4.98e-1 |
SMART |
|
ZnF_U1
|
150 |
184 |
1.87e-8 |
SMART |
|
ZnF_C2H2
|
153 |
177 |
1.51e1 |
SMART |
|
ZnF_U1
|
204 |
238 |
1.99e-3 |
SMART |
|
ZnF_C2H2
|
207 |
231 |
3.47e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159278
AA Change: R103S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125078
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
ZnF_U1
|
131 |
165 |
5.22e-7 |
SMART |
|
ZnF_C2H2
|
134 |
158 |
4.98e-1 |
SMART |
|
ZnF_U1
|
198 |
232 |
1.87e-8 |
SMART |
|
ZnF_C2H2
|
201 |
225 |
1.51e1 |
SMART |
|
ZnF_U1
|
251 |
285 |
1.99e-3 |
SMART |
|
ZnF_C2H2
|
254 |
278 |
3.47e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160660
AA Change: R103S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124034
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161018
|
| SMART Domains |
Protein: ENSMUSP00000125154
Gene: ENSMUSG00000021481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161077
AA Change: R84S
|
| SMART Domains |
Protein: ENSMUSP00000125204
Gene: ENSMUSG00000021481
AA Change: R84S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
52 |
86 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
55 |
79 |
2.61e1 |
SMART |
|
ZnF_U1
|
113 |
147 |
5.22e-7 |
SMART |
|
ZnF_C2H2
|
116 |
140 |
4.98e-1 |
SMART |
|
ZnF_U1
|
180 |
214 |
1.87e-8 |
SMART |
|
ZnF_C2H2
|
183 |
207 |
1.51e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161315
AA Change: R103S
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124397
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162288
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162428
AA Change: R103S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125389
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162476
AA Change: R103S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125743
Gene: ENSMUSG00000021481
AA Change: R103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
ZnF_U1
|
70 |
104 |
1.26e-5 |
SMART |
|
ZnF_C2H2
|
73 |
97 |
2.61e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161551
|
| SMART Domains |
Protein: ENSMUSP00000124180
Gene: ENSMUSG00000021481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
PDB:1ZU1|A
|
53 |
93 |
4e-12 |
PDB |
|
Blast:ZnF_U1
|
70 |
94 |
3e-9 |
BLAST |
|
| Meta Mutation Damage Score |
0.1681 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
G |
4: 32,563,338 (GRCm39) |
S602A |
probably damaging |
Het |
| Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
| Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
| Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
| Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
| Gfra1 |
T |
C |
19: 58,227,682 (GRCm39) |
|
probably null |
Het |
| Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
| Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,018,586 (GRCm39) |
Y91F |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
| Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
| Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
| Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
| Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
| Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
| Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
| Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
| Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
| Skint4 |
C |
T |
4: 111,977,066 (GRCm39) |
T152M |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
| Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
| Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
| Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
| Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
|
| Other mutations in Zfp346 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0480:Zfp346
|
UTSW |
13 |
55,260,910 (GRCm39) |
nonsense |
probably null |
|
|
R2025:Zfp346
|
UTSW |
13 |
55,280,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Zfp346
|
UTSW |
13 |
55,253,163 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4821:Zfp346
|
UTSW |
13 |
55,261,626 (GRCm39) |
intron |
probably benign |
|
|
R5647:Zfp346
|
UTSW |
13 |
55,270,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Zfp346
|
UTSW |
13 |
55,260,915 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6145:Zfp346
|
UTSW |
13 |
55,263,387 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6450:Zfp346
|
UTSW |
13 |
55,261,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Zfp346
|
UTSW |
13 |
55,280,200 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7036:Zfp346
|
UTSW |
13 |
55,280,200 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7148:Zfp346
|
UTSW |
13 |
55,253,263 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7298:Zfp346
|
UTSW |
13 |
55,278,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8721:Zfp346
|
UTSW |
13 |
55,261,491 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGTATCGTTGTATGCAGATCTT -3'
(R):5'- CGGATTTTGAGTCTGGCACTG -3'
Sequencing Primer
(F):5'- ATCTTGCCGGACAACGTGATG -3'
(R):5'- ACAGTCTGTCATGTAGCCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation