Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Zfy2'

506157

Institutional Source

Beutler Lab

Gene Symbol

Zfy2

Ensembl Gene

ENSMUSG00000000103

Gene Name

zinc finger protein 2, Y-linked

Synonyms

Zfy-2

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6256 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

2106015-2170409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 2116267 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Valine at position 258 (I258V)

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: I258V

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

SMART Domains

Protein: ENSMUSP00000111557
Gene: ENSMUSG00000000103
AA Change: I258V

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: I258V

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

SMART Domains

Protein: ENSMUSP00000139591
Gene: ENSMUSG00000000103
AA Change: I258V

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: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo

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
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
R7759:Zfy2	UTSW	Y	2117083	missense	probably benign	0.02
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'- GCATAATAATCTCTATGCAGGTCTG -3'
(R):5'- TGCCACCAGACCCTGATATTAC -3'

Sequencing Primer
(F):5'- CAGGTCTGCTGTTATACTGCTTGC -3'
(R):5'- GGAAAGCTTCTTTGAACGTT -3'

Posted On

2018-02-28