Incidental Mutation 'R5827:Zfp58'
ID |
450227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp58
|
Ensembl Gene |
ENSMUSG00000071291 |
Gene Name |
zinc finger protein 58 |
Synonyms |
Mfg1, Zfp817, A530094I17Rik, Mfg-1 |
MMRRC Submission |
043218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R5827 (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 T
at 67639412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 360
(C360S)
|
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: C360S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075487 Gene: ENSMUSG00000071291 AA Change: C360S
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: C360S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132285 Gene: ENSMUSG00000071291 AA Change: C360S
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably 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 |
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 |
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'- GTCTTTTAAGGGATGAAGATCGGT -3'
(R):5'- CCTTCAGTACTCGCTCAACATATTAT -3'
Sequencing Primer
(F):5'- GGGTTTCTCTCCAGTATGAACAAGC -3'
(R):5'- CCCTACAAGTGTGCAGAATGTG -3'
|
Posted On |
2016-12-20 |