Incidental Mutation 'R6772:Zfp429'
ID |
532219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp429
|
Ensembl Gene |
ENSMUSG00000078994 |
Gene Name |
zinc finger protein 429 |
Synonyms |
2810487A22Rik |
MMRRC Submission |
044888-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6772 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67536024-67547938 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67538317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 376
(C376R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109732]
[ENSMUST00000181071]
[ENSMUST00000224684]
[ENSMUST00000224825]
|
AlphaFold |
Q7M6Y0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109732
AA Change: C376R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105354 Gene: ENSMUSG00000078994 AA Change: C376R
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
7.16e-34 |
SMART |
ZnF_C2H2
|
119 |
141 |
5.12e1 |
SMART |
ZnF_C2H2
|
147 |
169 |
2.27e-4 |
SMART |
ZnF_C2H2
|
175 |
197 |
1.28e-3 |
SMART |
ZnF_C2H2
|
203 |
225 |
1.56e-2 |
SMART |
ZnF_C2H2
|
259 |
281 |
4.62e1 |
SMART |
ZnF_C2H2
|
287 |
309 |
5.14e-3 |
SMART |
ZnF_C2H2
|
315 |
337 |
6.78e-3 |
SMART |
ZnF_C2H2
|
343 |
365 |
3.11e-2 |
SMART |
ZnF_C2H2
|
371 |
393 |
1.25e-1 |
SMART |
ZnF_C2H2
|
399 |
421 |
6.32e-3 |
SMART |
ZnF_C2H2
|
427 |
449 |
1.47e-3 |
SMART |
ZnF_C2H2
|
455 |
477 |
5.42e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181071
|
SMART Domains |
Protein: ENSMUSP00000137755 Gene: ENSMUSG00000078994
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
7.16e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224684
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224825
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
Het |
|
Other mutations in Zfp429 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01160:Zfp429
|
APN |
13 |
67,539,132 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01913:Zfp429
|
APN |
13 |
67,544,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02343:Zfp429
|
APN |
13 |
67,538,844 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02679:Zfp429
|
APN |
13 |
67,547,855 (GRCm39) |
intron |
probably benign |
|
IGL03396:Zfp429
|
APN |
13 |
67,544,159 (GRCm39) |
splice site |
probably benign |
|
FR4342:Zfp429
|
UTSW |
13 |
67,544,769 (GRCm39) |
missense |
probably benign |
0.02 |
R0012:Zfp429
|
UTSW |
13 |
67,538,796 (GRCm39) |
missense |
probably benign |
0.01 |
R1232:Zfp429
|
UTSW |
13 |
67,538,751 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1330:Zfp429
|
UTSW |
13 |
67,544,262 (GRCm39) |
splice site |
probably null |
|
R1653:Zfp429
|
UTSW |
13 |
67,538,043 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1761:Zfp429
|
UTSW |
13 |
67,544,195 (GRCm39) |
missense |
probably benign |
0.28 |
R1813:Zfp429
|
UTSW |
13 |
67,538,505 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2356:Zfp429
|
UTSW |
13 |
67,538,746 (GRCm39) |
missense |
probably benign |
|
R4280:Zfp429
|
UTSW |
13 |
67,538,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4283:Zfp429
|
UTSW |
13 |
67,538,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4464:Zfp429
|
UTSW |
13 |
67,538,617 (GRCm39) |
missense |
probably benign |
0.13 |
R4789:Zfp429
|
UTSW |
13 |
67,538,523 (GRCm39) |
missense |
probably benign |
0.06 |
R5187:Zfp429
|
UTSW |
13 |
67,538,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R5250:Zfp429
|
UTSW |
13 |
67,538,638 (GRCm39) |
missense |
probably benign |
0.00 |
R6688:Zfp429
|
UTSW |
13 |
67,544,249 (GRCm39) |
missense |
probably damaging |
0.98 |
R6989:Zfp429
|
UTSW |
13 |
67,538,080 (GRCm39) |
missense |
probably benign |
0.00 |
R7041:Zfp429
|
UTSW |
13 |
67,538,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Zfp429
|
UTSW |
13 |
67,538,931 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7593:Zfp429
|
UTSW |
13 |
67,538,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Zfp429
|
UTSW |
13 |
67,538,558 (GRCm39) |
nonsense |
probably null |
|
R8500:Zfp429
|
UTSW |
13 |
67,538,828 (GRCm39) |
nonsense |
probably null |
|
R8721:Zfp429
|
UTSW |
13 |
67,538,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R8891:Zfp429
|
UTSW |
13 |
67,538,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Zfp429
|
UTSW |
13 |
67,538,531 (GRCm39) |
missense |
probably benign |
0.12 |
R9554:Zfp429
|
UTSW |
13 |
67,538,531 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGTTGTACAAAGCATGAGGATG -3'
(R):5'- CCCTACAAGTGTGGAGAACG -3'
Sequencing Primer
(F):5'- TGATGCTCCTGAAGACTTCCAGAG -3'
(R):5'- TCTGAAGACAACCCTTACAAGTGTG -3'
|
Posted On |
2018-08-29 |