Incidental Mutation 'R3033:Zfp58'
| ID |
263353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp58
|
| Ensembl Gene |
ENSMUSG00000071291 |
| Gene Name |
zinc finger protein 58 |
| Synonyms |
Mfg1, Zfp817, A530094I17Rik, Mfg-1 |
| MMRRC Submission |
040549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R3033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67638286-67648641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67639741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076123]
[ENSMUST00000091523]
[ENSMUST00000163534]
[ENSMUST00000167914]
[ENSMUST00000171518]
|
| AlphaFold |
P16372 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076123
AA Change: E250G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075487
Gene: ENSMUSG00000071291
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
2.19e-29 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.58e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091523
|
| SMART Domains |
Protein: ENSMUSP00000089108
Gene: ENSMUSG00000071291
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
2.19e-29 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.57e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163534
|
| SMART Domains |
Protein: ENSMUSP00000129177
Gene: ENSMUSG00000071291
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
2.19e-29 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
9.73e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167914
|
| SMART Domains |
Protein: ENSMUSP00000137830
Gene: ENSMUSG00000097565
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
4.41e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171518
AA Change: E250G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132285
Gene: ENSMUSG00000071291
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
2.19e-29 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.58e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
| Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
| Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
| Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
|
| Other mutations in Zfp58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Zfp58
|
APN |
13 |
67,639,114 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02618:Zfp58
|
APN |
13 |
67,639,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03188:Zfp58
|
APN |
13 |
67,639,528 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0535:Zfp58
|
UTSW |
13 |
67,640,201 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Zfp58
|
UTSW |
13 |
67,640,144 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1470:Zfp58
|
UTSW |
13 |
67,640,144 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1750:Zfp58
|
UTSW |
13 |
67,639,598 (GRCm39) |
nonsense |
probably null |
|
|
R1862:Zfp58
|
UTSW |
13 |
67,639,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Zfp58
|
UTSW |
13 |
67,639,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3031:Zfp58
|
UTSW |
13 |
67,640,231 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4200:Zfp58
|
UTSW |
13 |
67,639,440 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5827:Zfp58
|
UTSW |
13 |
67,639,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6723:Zfp58
|
UTSW |
13 |
67,642,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Zfp58
|
UTSW |
13 |
67,640,082 (GRCm39) |
nonsense |
probably null |
|
|
R7890:Zfp58
|
UTSW |
13 |
67,640,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9189:Zfp58
|
UTSW |
13 |
67,640,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9338:Zfp58
|
UTSW |
13 |
67,639,394 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9477:Zfp58
|
UTSW |
13 |
67,640,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Zfp58
|
UTSW |
13 |
67,639,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAGAATGACGCAATT -3'
(R):5'- TTGCAAGTCACTGCTTACTCA -3'
Sequencing Primer
(F):5'- GAGTAAAATGCCCTGTCGCAGTC -3'
(R):5'- AAGGCCTTTCGTATTCGCTCAAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation