Mutagenetix > Incidental Mutation

Incidental Mutation 'R5428:Zfy1'

427045

Institutional Source

Beutler Lab

Gene Symbol

Zfy1

Ensembl Gene

ENSMUSG00000053211

Gene Name

zinc finger protein 1, Y-linked

Synonyms

Zfy-1

MMRRC Submission

042994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R5428 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

725207-797409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 726205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 520 (H520P)

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: H520P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069364
Gene: ENSMUSG00000053211
AA Change: H520P

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: H520P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140600
Gene: ENSMUSG00000053211
AA Change: H520P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,635,918 (GRCm39)	V324L	probably benign	Het
Abl2	T	C	1: 156,469,681 (GRCm39)	C982R	probably damaging	Het
Adgrl4	G	A	3: 151,248,323 (GRCm39)	C665Y	probably damaging	Het
Adra1d	A	G	2: 131,403,323 (GRCm39)	S256P	probably damaging	Het
Aipl1	T	A	11: 71,921,313 (GRCm39)	Y194F	probably benign	Het
Arfgef1	C	A	1: 10,231,060 (GRCm39)	D1150Y	probably damaging	Het
Arl14epl	A	T	18: 47,059,387 (GRCm39)	M1L	possibly damaging	Het
Colgalt1	G	T	8: 72,075,420 (GRCm39)	R442L	probably damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dach1	A	G	14: 98,406,705 (GRCm39)	V14A	unknown	Het
Defa30	A	G	8: 21,625,419 (GRCm39)	D61G	probably benign	Het
Dnaja2	A	T	8: 86,266,804 (GRCm39)	C308S	probably benign	Het
Emc4	A	G	2: 112,197,700 (GRCm39)		probably benign	Het
Foxp1	A	G	6: 98,993,592 (GRCm39)	V104A	probably damaging	Het
Fry	T	G	5: 150,328,824 (GRCm39)	L1319R	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja10	T	A	4: 32,601,169 (GRCm39)	H405L	probably benign	Het
Gm27047	A	G	6: 130,607,527 (GRCm39)		noncoding transcript	Het
Grm1	T	A	10: 10,595,307 (GRCm39)	T774S	probably damaging	Het
Gtse1	A	C	15: 85,746,340 (GRCm39)	D52A	probably benign	Het
Kctd17	T	A	15: 78,312,982 (GRCm39)	F42Y	probably damaging	Het
Kndc1	A	G	7: 139,488,878 (GRCm39)	K178E	probably damaging	Het
Lrrc74b	T	C	16: 17,376,125 (GRCm39)	E175G	probably damaging	Het
Macf1	A	G	4: 123,278,661 (GRCm39)	I5927T	probably damaging	Het
Maml2	A	G	9: 13,617,191 (GRCm39)	N935S	probably benign	Het
Man2a1	A	G	17: 65,019,295 (GRCm39)	I720V	probably benign	Het
Map3k5	C	T	10: 19,899,399 (GRCm39)	H219Y	possibly damaging	Het
Map4k5	T	C	12: 69,884,787 (GRCm39)	T314A	possibly damaging	Het
Mast3	A	G	8: 71,237,377 (GRCm39)	V615A	possibly damaging	Het
Mcmbp	C	T	7: 128,306,248 (GRCm39)	V457I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nacc1	T	C	8: 85,402,783 (GRCm39)	I337V	probably damaging	Het
Nipbl	T	C	15: 8,359,780 (GRCm39)	D1475G	probably benign	Het
Orc1	T	A	4: 108,457,137 (GRCm39)	D392E	probably benign	Het
Pappa2	T	C	1: 158,642,355 (GRCm39)	T1297A	possibly damaging	Het
Plag1	C	T	4: 3,905,538 (GRCm39)	V51I	possibly damaging	Het
Ppp1r12a	G	A	10: 108,089,208 (GRCm39)	E616K	possibly damaging	Het
Ptgs1	A	G	2: 36,135,280 (GRCm39)	M415V	probably benign	Het
Ralgapa2	C	T	2: 146,176,414 (GRCm39)	E1683K	probably damaging	Het
Rap2a	T	A	14: 120,716,406 (GRCm39)	F90I	probably benign	Het
Rcvrn	A	G	11: 67,590,875 (GRCm39)	E153G	possibly damaging	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skil	T	A	3: 31,151,647 (GRCm39)	D56E	probably benign	Het
Slc22a18	G	T	7: 143,033,082 (GRCm39)	G57W	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Synj1	T	C	16: 90,788,406 (GRCm39)	D154G	probably damaging	Het
Tbc1d24	A	T	17: 24,400,746 (GRCm39)	N156K	probably benign	Het
Tcea1	A	T	1: 4,950,568 (GRCm39)		probably benign	Het
Tmc3	T	C	7: 83,261,755 (GRCm39)	V611A	probably damaging	Het
Tnrc6c	A	G	11: 117,591,588 (GRCm39)	M1V	probably null	Het
Tomm5	A	T	4: 45,106,689 (GRCm39)		probably benign	Het
Ttc6	A	G	12: 57,736,620 (GRCm39)	K1207R	probably null	Het
Ttn	T	C	2: 76,591,448 (GRCm39)	T12747A	possibly damaging	Het
Ttn	A	T	2: 76,715,480 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,569,175 (GRCm39)	D1147G	probably benign	Het
Vmn1r53	T	C	6: 90,200,395 (GRCm39)	I310V	probably benign	Het
Washc4	A	C	10: 83,410,386 (GRCm39)	D658A	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Ylpm1	T	C	12: 85,077,003 (GRCm39)	F1243L	probably benign	Het
Zbtb24	T	C	10: 41,340,784 (GRCm39)	S605P	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	726,392 (GRCm39)	missense	possibly damaging	0.77
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
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'- GGAGACAGATGCCACACTTC -3'
(R):5'- AGCTTACATAATCACATGGAGAGCC -3'

Sequencing Primer
(F):5'- ACTTCAGTGGTATCTCTTTACTATGC -3'
(R):5'- ATTAAGACAGAAAAGACCACTGAATG -3'

Posted On

2016-09-01