Incidental Mutation 'R6710:Zfp174'
| ID |
529103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp174
|
| Ensembl Gene |
ENSMUSG00000054939 |
| Gene Name |
zinc finger protein 174 |
| Synonyms |
LOC385674 |
| MMRRC Submission |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3665132-3676744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3665921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 62
(E62G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041778]
[ENSMUST00000214238]
[ENSMUST00000214590]
|
| AlphaFold |
B9EJW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041778
AA Change: E62G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045805
Gene: ENSMUSG00000054939
AA Change: E62G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
6.21e-65 |
SMART |
|
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
326 |
348 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214590
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
|
| Other mutations in Zfp174 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Zfp174
|
APN |
16 |
3,672,153 (GRCm39) |
missense |
probably benign |
|
|
R0558:Zfp174
|
UTSW |
16 |
3,666,118 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1141:Zfp174
|
UTSW |
16 |
3,667,321 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1378:Zfp174
|
UTSW |
16 |
3,667,353 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1846:Zfp174
|
UTSW |
16 |
3,672,599 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2089:Zfp174
|
UTSW |
16 |
3,672,506 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2091:Zfp174
|
UTSW |
16 |
3,672,506 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2091:Zfp174
|
UTSW |
16 |
3,672,506 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5784:Zfp174
|
UTSW |
16 |
3,672,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6621:Zfp174
|
UTSW |
16 |
3,665,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Zfp174
|
UTSW |
16 |
3,665,804 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7104:Zfp174
|
UTSW |
16 |
3,672,269 (GRCm39) |
missense |
probably benign |
|
|
R7241:Zfp174
|
UTSW |
16 |
3,666,111 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7774:Zfp174
|
UTSW |
16 |
3,667,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Zfp174
|
UTSW |
16 |
3,666,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACATTGTTCCCAGAGCC -3'
(R):5'- GTGCAAATCTTCCACCAGAGTC -3'
Sequencing Primer
(F):5'- CCCCAAAATGGCAGCTAGAATGG -3'
(R):5'- AGAGTCACAATCTCCCTGCTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation