Incidental Mutation 'R6684:Zfp42'
| ID |
527616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp42
|
| Ensembl Gene |
ENSMUSG00000051176 |
| Gene Name |
zinc finger protein 42 |
| Synonyms |
Rex-1, Rex1, Zfp-42 |
| MMRRC Submission |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
probably 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 |
|
R6685: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'- TTTCGAGCTCTCCGTGAAGG -3'
(R):5'- AGGTGAGTTTTCCGAACCCATTC -3'
Sequencing Primer
(F):5'- AGCTCTCCGTGAAGGCTTTG -3'
(R):5'- TTTCCGAACCCATTCTGGAAGAGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation