Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Zfy2'

597774

Institutional Source

Beutler Lab

Gene Symbol

Zfy2

Ensembl Gene

ENSMUSG00000000103

Gene Name

zinc finger protein 2, Y-linked

Synonyms

Zfy-2

MMRRC Submission

045815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7759 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

2106015-2170409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 2117083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 248 (D248G)

Ref Sequence

ENSEMBL: ENSMUSP00000111557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115891] [ENSMUST00000187148]

AlphaFold

P20662

Predicted Effect

probably benign
Transcript: ENSMUST00000115891
AA Change: D248G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000111557
Gene: ENSMUSG00000000103
AA Change: D248G

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: D248G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139591
Gene: ENSMUSG00000000103
AA Change: D248G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het

Other mutations in Zfy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Zfy2	APN	Y	2106894	missense	probably benign	0.01
IGL02850:Zfy2	APN	Y	2117188	missense	probably benign	0.00
IGL02851:Zfy2	APN	Y	2106894	missense	probably benign	0.01
IGL02851:Zfy2	APN	Y	2117188	missense	probably benign	0.00
IGL02852:Zfy2	APN	Y	2106894	missense	probably benign	0.01
IGL02852:Zfy2	APN	Y	2117188	missense	probably benign	0.00
PIT4515001:Zfy2	UTSW	Y	2117096	missense	probably benign	0.09
R0426:Zfy2	UTSW	Y	2107348	missense	possibly damaging	0.61
R0490:Zfy2	UTSW	Y	2106620	missense	possibly damaging	0.89
R1080:Zfy2	UTSW	Y	2121645	missense	probably benign	0.00
R1513:Zfy2	UTSW	Y	2116185	missense	probably benign	0.00
R1935:Zfy2	UTSW	Y	2121496	missense	probably benign	0.02
R1936:Zfy2	UTSW	Y	2121496	missense	probably benign	0.02
R2358:Zfy2	UTSW	Y	2107272	missense	possibly damaging	0.61
R4484:Zfy2	UTSW	Y	2107351	missense	possibly damaging	0.86
R4754:Zfy2	UTSW	Y	2121477	missense	probably benign	0.02
R4777:Zfy2	UTSW	Y	2116194	missense	probably benign	0.00
R4812:Zfy2	UTSW	Y	2106334	missense	probably benign	0.08
R5045:Zfy2	UTSW	Y	2107159	missense	possibly damaging	0.77
R5363:Zfy2	UTSW	Y	2106555	missense	possibly damaging	0.95
R6256:Zfy2	UTSW	Y	2116267	missense	probably benign	0.02
R6618:Zfy2	UTSW	Y	2121477	missense	probably benign	0.10
R6941:Zfy2	UTSW	Y	2121491	missense	probably benign	0.02
R7011:Zfy2	UTSW	Y	2107127	missense	possibly damaging	0.59
R7712:Zfy2	UTSW	Y	2121420	missense	probably benign	0.05
R7985:Zfy2	UTSW	Y	2116263	missense	probably benign	0.00
R8051:Zfy2	UTSW	Y	2117380	intron	probably benign
R8218:Zfy2	UTSW	Y	2133421	missense	unknown
R8345:Zfy2	UTSW	Y	2107096	missense	possibly damaging	0.95
R8371:Zfy2	UTSW	Y	2117168	missense	probably benign	0.00
R8830:Zfy2	UTSW	Y	2106600	missense	possibly damaging	0.60
R9448:Zfy2	UTSW	Y	2109904	missense	probably damaging	0.98
R9537:Zfy2	UTSW	Y	2108596	missense

Predicted Primers

PCR Primer
(F):5'- TTCAAAGAAGCTTTCCAAATTTCCA -3'
(R):5'- CAATCTAGCCAGCCCCTCTTTAT -3'

Sequencing Primer
(F):5'- AGTTCAAGGCCAGTCTGATC -3'
(R):5'- AGCCAGCCCCTCTTTATCTCTG -3'

Posted On

2019-11-26