Incidental Mutation 'R6639:Zfp383'
| ID |
525655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp383
|
| Ensembl Gene |
ENSMUSG00000099689 |
| Gene Name |
zinc finger protein 383 |
| Synonyms |
1110003H10Rik |
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29607705-29616238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29614152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 136
(S136P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000186475]
[ENSMUST00000187028]
|
| AlphaFold |
A0A087WRR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186475
AA Change: S136P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140742
Gene: ENSMUSG00000099689
AA Change: S136P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
87 |
4.95e-37 |
SMART |
|
low complexity region
|
165 |
173 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
185 |
207 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
1.82e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187028
|
| SMART Domains |
Protein: ENSMUSP00000141019
Gene: ENSMUSG00000099689
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
87 |
5.6e-22 |
SMART |
|
low complexity region
|
124 |
142 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
probably damaging |
Het |
|
| Other mutations in Zfp383 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
flyer
|
UTSW |
7 |
29,614,152 (GRCm39) |
missense |
probably benign |
|
|
Nonstarter
|
UTSW |
7 |
29,608,071 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R4796:Zfp383
|
UTSW |
7 |
29,614,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5114:Zfp383
|
UTSW |
7 |
29,614,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Zfp383
|
UTSW |
7 |
29,614,695 (GRCm39) |
nonsense |
probably null |
|
|
R5622:Zfp383
|
UTSW |
7 |
29,611,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Zfp383
|
UTSW |
7 |
29,615,103 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6952:Zfp383
|
UTSW |
7 |
29,614,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7067:Zfp383
|
UTSW |
7 |
29,608,071 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R7635:Zfp383
|
UTSW |
7 |
29,614,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7809:Zfp383
|
UTSW |
7 |
29,609,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7839:Zfp383
|
UTSW |
7 |
29,614,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Zfp383
|
UTSW |
7 |
29,611,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9006:Zfp383
|
UTSW |
7 |
29,608,070 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R9013:Zfp383
|
UTSW |
7 |
29,614,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9403:Zfp383
|
UTSW |
7 |
29,614,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1186:Zfp383
|
UTSW |
7 |
29,615,190 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp383
|
UTSW |
7 |
29,614,146 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp383
|
UTSW |
7 |
29,614,140 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGATCTCCGTAAGCCTGTGTC -3'
(R):5'- TGTGAGTTCTGGGTAAAGACC -3'
Sequencing Primer
(F):5'- GCCTGTGTCATTTACTTACTAAACAG -3'
(R):5'- GTTCTGGGTAAAGACCTTTTTACAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation