Incidental Mutation 'R2374:Zfy1'
ID |
248249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfy1
|
Ensembl Gene |
ENSMUSG00000053211 |
Gene Name |
zinc finger protein 1, Y-linked |
Synonyms |
Zfy-1 |
MMRRC Submission |
040353-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.047)
|
Stock # |
R2374 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
725207-797409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 726392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 458
(L458V)
|
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: L458V
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000069364 Gene: ENSMUSG00000053211 AA Change: L458V
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: L458V
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140600 Gene: ENSMUSG00000053211 AA Change: L458V
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Clec4b1 |
T |
G |
6: 123,027,597 (GRCm39) |
L18R |
probably damaging |
Het |
Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
Nkpd1 |
A |
T |
7: 19,257,900 (GRCm39) |
T560S |
possibly damaging |
Het |
Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,825,614 (GRCm39) |
L155Q |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
Zbtb26 |
A |
G |
2: 37,326,497 (GRCm39) |
S180P |
probably benign |
Het |
Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
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 |
726,391 (GRCm39) |
missense |
probably damaging |
0.99 |
R2889:Zfy1
|
UTSW |
Y |
726,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- TGGGTGACGGAAACCTTTACC -3'
(R):5'- ACAAACTTTACGTGTCTATCCTTGC -3'
Sequencing Primer
(F):5'- GGTGACGGAAACCTTTACCACATTC -3'
(R):5'- ACGTGTCTATCCTTGCATGTTTTG -3'
|
Posted On |
2014-11-11 |