Incidental Mutation 'R6685:Zfp42'
| ID |
527652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp42
|
| Ensembl Gene |
ENSMUSG00000051176 |
| Gene Name |
zinc finger protein 42 |
| Synonyms |
Rex-1, Rex1, Zfp-42 |
| MMRRC Submission |
044804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
43748100-43760017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43749093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 136
(T136M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082120]
[ENSMUST00000209356]
[ENSMUST00000211248]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082120
AA Change: T136M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080765
Gene: ENSMUSG00000051176
AA Change: T136M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
170 |
194 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
227 |
251 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
257 |
281 |
1.67e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209356
AA Change: T136M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211248
AA Change: T136M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for one knock-out allele exhibit premature age-related male germ cell loss, abnormal sperm morphology, and mild testicular atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,071,174 (GRCm39) |
Y203* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,099,586 (GRCm39) |
N712S |
possibly damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,150,817 (GRCm39) |
Q1139* |
probably null |
Het |
| Casc3 |
A |
G |
11: 98,713,356 (GRCm39) |
K257E |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,868 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,912,814 (GRCm39) |
Q357K |
probably benign |
Het |
| Dcst1 |
A |
C |
3: 89,264,180 (GRCm39) |
V345G |
possibly damaging |
Het |
| Dsg3 |
G |
A |
18: 20,653,672 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,096,641 (GRCm39) |
C308R |
probably benign |
Het |
| Etaa1 |
G |
T |
11: 17,903,582 (GRCm39) |
D71E |
probably benign |
Het |
| Flg |
T |
C |
3: 93,186,716 (GRCm39) |
V56A |
possibly damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,494 (GRCm39) |
L52P |
probably damaging |
Het |
| Inhbb |
A |
G |
1: 119,345,335 (GRCm39) |
L318P |
probably damaging |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,684,570 (GRCm39) |
R728Q |
probably damaging |
Het |
| Metap1 |
A |
T |
3: 138,184,595 (GRCm39) |
F126I |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,888 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,738 (GRCm39) |
V173E |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,937,933 (GRCm39) |
F30I |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sh3rf3 |
C |
T |
10: 58,922,663 (GRCm39) |
L580F |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,593,819 (GRCm39) |
V99F |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,593,820 (GRCm39) |
H98Q |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,069 (GRCm39) |
I203F |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,897 (GRCm39) |
V347I |
possibly damaging |
Het |
|
| Other mutations in Zfp42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0325:Zfp42
|
UTSW |
8 |
43,748,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0648:Zfp42
|
UTSW |
8 |
43,749,015 (GRCm39) |
missense |
probably benign |
|
|
R1494:Zfp42
|
UTSW |
8 |
43,748,638 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3618:Zfp42
|
UTSW |
8 |
43,748,938 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4695:Zfp42
|
UTSW |
8 |
43,749,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4877:Zfp42
|
UTSW |
8 |
43,748,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6683:Zfp42
|
UTSW |
8 |
43,749,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6684:Zfp42
|
UTSW |
8 |
43,749,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7264:Zfp42
|
UTSW |
8 |
43,749,312 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9297:Zfp42
|
UTSW |
8 |
43,748,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9608:Zfp42
|
UTSW |
8 |
43,749,172 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Zfp42
|
UTSW |
8 |
43,748,842 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:Zfp42
|
UTSW |
8 |
43,749,277 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCGAGCTCTCCGTGAAG -3'
(R):5'- AGGTGAGTTTTCCGAACCCATTC -3'
Sequencing Primer
(F):5'- AGCTCTCCGTGAAGGCTTTG -3'
(R):5'- TTTCCGAACCCATTCTGGAAGAGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation