Incidental Mutation 'R6618:Zfy2'
ID |
524248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfy2
|
Ensembl Gene |
ENSMUSG00000000103 |
Gene Name |
zinc finger protein 2, Y-linked |
Synonyms |
Zfy-2 |
MMRRC Submission |
044741-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6618 (G1)
|
Quality Score |
221.999 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
2106175-2170409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 2121477 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Serine to Proline
at position 139
(S139P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115891]
[ENSMUST00000187148]
|
AlphaFold |
P20662 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115891
AA Change: S139P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000111557 Gene: ENSMUSG00000000103 AA Change: S139P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:Zfx_Zfy_act
|
68 |
388 |
1.1e-115 |
PFAM |
ZnF_C2H2
|
403 |
425 |
3.69e-4 |
SMART |
ZnF_C2H2
|
434 |
456 |
1.26e-2 |
SMART |
ZnF_C2H2
|
491 |
514 |
1.41e0 |
SMART |
ZnF_C2H2
|
520 |
542 |
3.69e-4 |
SMART |
ZnF_C2H2
|
548 |
571 |
3.63e-3 |
SMART |
ZnF_C2H2
|
577 |
599 |
1.02e1 |
SMART |
ZnF_C2H2
|
605 |
628 |
3.58e-2 |
SMART |
ZnF_C2H2
|
634 |
656 |
2.95e-3 |
SMART |
ZnF_C2H2
|
662 |
685 |
1.23e0 |
SMART |
ZnF_C2H2
|
691 |
713 |
1.45e-2 |
SMART |
ZnF_C2H2
|
719 |
742 |
1.2e-3 |
SMART |
ZnF_C2H2
|
748 |
770 |
3.34e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187148
AA Change: S139P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139591 Gene: ENSMUSG00000000103 AA Change: S139P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:Zfx_Zfy_act
|
67 |
388 |
2.6e-149 |
PFAM |
ZnF_C2H2
|
403 |
425 |
3.69e-4 |
SMART |
ZnF_C2H2
|
434 |
456 |
1.26e-2 |
SMART |
ZnF_C2H2
|
491 |
514 |
1.41e0 |
SMART |
ZnF_C2H2
|
520 |
542 |
3.69e-4 |
SMART |
ZnF_C2H2
|
548 |
571 |
3.63e-3 |
SMART |
ZnF_C2H2
|
577 |
599 |
1.02e1 |
SMART |
ZnF_C2H2
|
605 |
628 |
3.58e-2 |
SMART |
ZnF_C2H2
|
634 |
656 |
2.95e-3 |
SMART |
ZnF_C2H2
|
662 |
685 |
1.23e0 |
SMART |
ZnF_C2H2
|
691 |
713 |
1.45e-2 |
SMART |
ZnF_C2H2
|
719 |
742 |
1.2e-3 |
SMART |
ZnF_C2H2
|
748 |
770 |
3.34e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfy2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02850:Zfy2
|
APN |
Y |
2,117,188 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02850:Zfy2
|
APN |
Y |
2,106,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02851:Zfy2
|
APN |
Y |
2,117,188 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02851:Zfy2
|
APN |
Y |
2,106,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02852:Zfy2
|
APN |
Y |
2,117,188 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02852:Zfy2
|
APN |
Y |
2,106,894 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4515001:Zfy2
|
UTSW |
Y |
2,117,096 (GRCm39) |
missense |
probably benign |
0.09 |
R0426:Zfy2
|
UTSW |
Y |
2,107,348 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0490:Zfy2
|
UTSW |
Y |
2,106,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1080:Zfy2
|
UTSW |
Y |
2,121,645 (GRCm39) |
missense |
probably benign |
0.00 |
R1513:Zfy2
|
UTSW |
Y |
2,116,185 (GRCm39) |
missense |
probably benign |
0.00 |
R1935:Zfy2
|
UTSW |
Y |
2,121,496 (GRCm39) |
missense |
probably benign |
0.02 |
R1936:Zfy2
|
UTSW |
Y |
2,121,496 (GRCm39) |
missense |
probably benign |
0.02 |
R2358:Zfy2
|
UTSW |
Y |
2,107,272 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4484:Zfy2
|
UTSW |
Y |
2,107,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4754:Zfy2
|
UTSW |
Y |
2,121,477 (GRCm39) |
missense |
probably benign |
0.02 |
R4777:Zfy2
|
UTSW |
Y |
2,116,194 (GRCm39) |
missense |
probably benign |
0.00 |
R4812:Zfy2
|
UTSW |
Y |
2,106,334 (GRCm39) |
missense |
probably benign |
0.08 |
R5045:Zfy2
|
UTSW |
Y |
2,107,159 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5363:Zfy2
|
UTSW |
Y |
2,106,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6256:Zfy2
|
UTSW |
Y |
2,116,267 (GRCm39) |
missense |
probably benign |
0.02 |
R6941:Zfy2
|
UTSW |
Y |
2,121,491 (GRCm39) |
missense |
probably benign |
0.02 |
R7011:Zfy2
|
UTSW |
Y |
2,107,127 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7712:Zfy2
|
UTSW |
Y |
2,121,420 (GRCm39) |
missense |
probably benign |
0.05 |
R7759:Zfy2
|
UTSW |
Y |
2,117,083 (GRCm39) |
missense |
probably benign |
0.02 |
R7985:Zfy2
|
UTSW |
Y |
2,116,263 (GRCm39) |
missense |
probably benign |
0.00 |
R8051:Zfy2
|
UTSW |
Y |
2,117,380 (GRCm39) |
intron |
probably benign |
|
R8218:Zfy2
|
UTSW |
Y |
2,133,421 (GRCm39) |
missense |
unknown |
|
R8345:Zfy2
|
UTSW |
Y |
2,107,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8371:Zfy2
|
UTSW |
Y |
2,117,168 (GRCm39) |
missense |
probably benign |
0.00 |
R8830:Zfy2
|
UTSW |
Y |
2,106,600 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9448:Zfy2
|
UTSW |
Y |
2,109,904 (GRCm39) |
missense |
probably damaging |
0.98 |
R9537:Zfy2
|
UTSW |
Y |
2,108,596 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GATTCTGGCATCATCTTGCTGC -3'
(R):5'- TTTTGTTCCTGATGATCCAGACTCAG -3'
Sequencing Primer
(F):5'- ATCATCTTGCTGCTCCAGAGG -3'
(R):5'- TCTTATTGAAGATGTTCACTGTTCAC -3'
|
Posted On |
2018-06-22 |