Incidental Mutation 'R6688:Zfp429'
| ID |
527871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp429
|
| Ensembl Gene |
ENSMUSG00000078994 |
| Gene Name |
zinc finger protein 429 |
| Synonyms |
2810487A22Rik |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6688 (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 T
at 67544249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 58
(V58D)
|
| 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: V58D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105354
Gene: ENSMUSG00000078994
AA Change: V58D
| 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
AA Change: V58D
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137755
Gene: ENSMUSG00000078994
AA Change: V58D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
7.16e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224684
AA Change: V58D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224825
AA Change: V45D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225810
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
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 |
|
R6772:Zfp429
|
UTSW |
13 |
67,538,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGTCTGAGAGATGTTTAAGAGAGACC -3'
(R):5'- ATCAGGCGTGGACCACATTTG -3'
Sequencing Primer
(F):5'- CACTTTCCTACATACCTGGG -3'
(R):5'- AGGCGTGGACCACATTTGTTAATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation