Incidental Mutation 'R3031:Zfp58'
ID |
264733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp58
|
Ensembl Gene |
ENSMUSG00000071291 |
Gene Name |
zinc finger protein 58 |
Synonyms |
Mfg1, Zfp817, A530094I17Rik, Mfg-1 |
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R3031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67638286-67648641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67640231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 87
(F87L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076123]
[ENSMUST00000091523]
[ENSMUST00000163534]
[ENSMUST00000167914]
[ENSMUST00000171518]
|
AlphaFold |
P16372 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076123
AA Change: F87L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000075487 Gene: ENSMUSG00000071291 AA Change: F87L
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
AA Change: F87L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000089108 Gene: ENSMUSG00000071291 AA Change: F87L
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
AA Change: F87L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000129177 Gene: ENSMUSG00000071291 AA Change: F87L
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 benign
Transcript: ENSMUST00000171518
AA Change: F87L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000132285 Gene: ENSMUSG00000071291 AA Change: F87L
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
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 |
R3033:Zfp58
|
UTSW |
13 |
67,639,741 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAAAGGCCTTACCACATTCTTC -3'
(R):5'- GTAGAAGCTTAGATTGTTTCCTCCTAC -3'
Sequencing Primer
(F):5'- ACCACATTCTTCACATTTGTAGGG -3'
(R):5'- TCATGCTAAATGAATACAGGGGTAG -3'
|
Posted On |
2015-02-05 |