Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Zfy2'

556356

Institutional Source

Beutler Lab

Gene Symbol

Zfy2

Ensembl Gene

ENSMUSG00000000103

Gene Name

zinc finger protein 2, Y-linked

Synonyms

Zfy-2

Accession Numbers

Essential gene?

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

Stock #

PIT4515001 (G1)

Quality Score

203.999

Status

Not validated

Chromosome

Chromosomal Location

2106175-2170409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 2117096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 244 (I244F)

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: I244F

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000111557
Gene: ENSMUSG00000000103
AA Change: I244F

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: I244F

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139591
Gene: ENSMUSG00000000103
AA Change: I244F

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: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	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
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
R6618:Zfy2	UTSW	Y	2,121,477 (GRCm39)	missense	probably benign	0.10
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'- GTTCAAAGAAGCTTTCCAAATTTCCA -3'
(R):5'- AGCCCCTCTTTATCTCTGTTTCAAAA -3'

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

Posted On

2019-06-07