Incidental Mutation 'R2889:Zfy1'
| ID |
260048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfy1
|
| Ensembl Gene |
ENSMUSG00000053211 |
| Gene Name |
zinc finger protein 1, Y-linked |
| Synonyms |
Zfy-1 |
| MMRRC Submission |
040477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R2889 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
Y |
| Chromosomal Location |
725207-797409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 726307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 486
(T486I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065545]
[ENSMUST00000189888]
|
| AlphaFold |
P10925 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065545
AA Change: T486I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069364
Gene: ENSMUSG00000053211
AA Change: T486I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:Zfx_Zfy_act
|
68 |
388 |
1.1e-109 |
PFAM |
|
ZnF_C2H2
|
403 |
425 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
497 |
520 |
1.41e0 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
554 |
577 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
8.98e0 |
SMART |
|
ZnF_C2H2
|
611 |
634 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
668 |
691 |
3.47e0 |
SMART |
|
ZnF_C2H2
|
697 |
719 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
725 |
748 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
754 |
776 |
5.81e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189888
AA Change: T486I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140600
Gene: ENSMUSG00000053211
AA Change: T486I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:Zfx_Zfy_act
|
67 |
388 |
1.2e-141 |
PFAM |
|
ZnF_C2H2
|
403 |
425 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
497 |
520 |
1.41e0 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
554 |
577 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
8.98e0 |
SMART |
|
ZnF_C2H2
|
611 |
634 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
668 |
691 |
3.47e0 |
SMART |
|
ZnF_C2H2
|
697 |
719 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
725 |
748 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
754 |
776 |
5.81e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,872,294 (GRCm39) |
M316K |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Ankrd6 |
C |
A |
4: 32,818,704 (GRCm39) |
L207F |
probably damaging |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,836,165 (GRCm39) |
K725R |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,472,526 (GRCm39) |
D879V |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Msantd3 |
T |
C |
4: 48,552,494 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,641,600 (GRCm39) |
I468T |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,589,784 (GRCm39) |
I71F |
probably benign |
Het |
| Or6z3 |
T |
A |
7: 6,463,940 (GRCm39) |
V144D |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,536,276 (GRCm39) |
V757F |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,906,995 (GRCm39) |
H5000N |
unknown |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,252,063 (GRCm39) |
Y403H |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Rsrc2 |
A |
T |
5: 123,874,620 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,778,166 (GRCm39) |
D2110G |
possibly damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,787 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,630,699 (GRCm39) |
T1067I |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,862 (GRCm39) |
L218P |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0149:Zfy1
|
UTSW |
Y |
726,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0361:Zfy1
|
UTSW |
Y |
726,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0529:Zfy1
|
UTSW |
Y |
726,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Zfy1
|
UTSW |
Y |
725,850 (GRCm39) |
nonsense |
probably null |
|
|
R0945:Zfy1
|
UTSW |
Y |
725,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1163:Zfy1
|
UTSW |
Y |
725,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1394:Zfy1
|
UTSW |
Y |
725,957 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1806:Zfy1
|
UTSW |
Y |
725,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1928:Zfy1
|
UTSW |
Y |
729,733 (GRCm39) |
missense |
unknown |
|
|
R2374:Zfy1
|
UTSW |
Y |
726,392 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2374:Zfy1
|
UTSW |
Y |
726,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2980:Zfy1
|
UTSW |
Y |
739,054 (GRCm39) |
missense |
unknown |
|
|
R3437:Zfy1
|
UTSW |
Y |
726,357 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4454:Zfy1
|
UTSW |
Y |
725,518 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4529:Zfy1
|
UTSW |
Y |
726,511 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4656:Zfy1
|
UTSW |
Y |
729,626 (GRCm39) |
missense |
unknown |
|
|
R5049:Zfy1
|
UTSW |
Y |
726,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5087:Zfy1
|
UTSW |
Y |
732,964 (GRCm39) |
missense |
unknown |
|
|
R5347:Zfy1
|
UTSW |
Y |
725,950 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5428:Zfy1
|
UTSW |
Y |
726,205 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5825:Zfy1
|
UTSW |
Y |
726,531 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6256:Zfy1
|
UTSW |
Y |
738,765 (GRCm39) |
missense |
unknown |
|
|
R7065:Zfy1
|
UTSW |
Y |
725,428 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7134:Zfy1
|
UTSW |
Y |
725,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7185:Zfy1
|
UTSW |
Y |
725,464 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7358:Zfy1
|
UTSW |
Y |
735,141 (GRCm39) |
missense |
unknown |
|
|
R7513:Zfy1
|
UTSW |
Y |
759,852 (GRCm39) |
missense |
unknown |
|
|
R7747:Zfy1
|
UTSW |
Y |
725,496 (GRCm39) |
nonsense |
probably null |
|
|
R7900:Zfy1
|
UTSW |
Y |
725,519 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8052:Zfy1
|
UTSW |
Y |
726,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8377:Zfy1
|
UTSW |
Y |
725,723 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8795:Zfy1
|
UTSW |
Y |
738,945 (GRCm39) |
missense |
unknown |
|
|
R8854:Zfy1
|
UTSW |
Y |
726,501 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8936:Zfy1
|
UTSW |
Y |
738,726 (GRCm39) |
missense |
unknown |
|
|
R9098:Zfy1
|
UTSW |
Y |
725,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9146:Zfy1
|
UTSW |
Y |
726,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9209:Zfy1
|
UTSW |
Y |
732,990 (GRCm39) |
missense |
unknown |
|
|
R9310:Zfy1
|
UTSW |
Y |
727,634 (GRCm39) |
missense |
unknown |
|
|
R9726:Zfy1
|
UTSW |
Y |
725,476 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTGTGAACTCGTATGTGC -3'
(R):5'- CCTGATGGACAAACTTTACGTGTC -3'
Sequencing Primer
(F):5'- AACTCGTATGTGCTTTTTGAGTGC -3'
(R):5'- GGACAAACTTTACGTGTCTATCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation