Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Zfy1'

450152

Institutional Source

Beutler Lab

Gene Symbol

Zfy1

Ensembl Gene

ENSMUSG00000053211

Gene Name

zinc finger protein 1, Y-linked

Synonyms

Zfy-1

MMRRC Submission

044053-MU

Accession Numbers

Essential gene?

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

Stock #

R5825 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

725207-797409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 726531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 411 (K411N)

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: K411N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069364
Gene: ENSMUSG00000053211
AA Change: K411N

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: K411N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140600
Gene: ENSMUSG00000053211
AA Change: K411N

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: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,976 (GRCm39)	Y217*	probably null	Het
Abca2	A	T	2: 25,326,748 (GRCm39)	I567F	probably benign	Het
Acss2	T	A	2: 155,391,098 (GRCm39)		probably null	Het
Atxn7l2	C	A	3: 108,112,127 (GRCm39)	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,669,379 (GRCm39)	G400D	probably benign	Het
Ces5a	G	T	8: 94,252,295 (GRCm39)	A199D	probably damaging	Het
Cfhr4	T	A	1: 139,702,336 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,134,350 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,905,606 (GRCm39)	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,395,451 (GRCm39)	Q58L	probably benign	Het
Dlec1	T	A	9: 118,972,036 (GRCm39)	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,017,427 (GRCm39)	H593R	probably benign	Het
Ep300	T	A	15: 81,495,673 (GRCm39)	C412S	probably benign	Het
Fam110a	A	G	2: 151,811,961 (GRCm39)	S270P	probably damaging	Het
Gcc2	A	G	10: 58,130,643 (GRCm39)	T1412A	probably damaging	Het
Helz2	T	C	2: 180,874,449 (GRCm39)	E2015G	probably benign	Het
Hormad1	T	C	3: 95,469,870 (GRCm39)	V39A	probably damaging	Het
Igf2	G	T	7: 142,207,592 (GRCm39)	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,570,726 (GRCm39)	T223A	probably benign	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896 (GRCm39)	V886E	probably benign	Het
Klra1	T	C	6: 130,357,592 (GRCm39)	R12G	probably damaging	Het
Lamb1	A	G	12: 31,368,613 (GRCm39)	I1248V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk7	C	T	11: 61,381,207 (GRCm39)	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,095,193 (GRCm39)	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Ninl	A	T	2: 150,782,644 (GRCm39)	I1182N	probably damaging	Het
Nup160	A	G	2: 90,510,114 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,683 (GRCm39)	R451G	probably benign	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Or5h22	T	C	16: 58,895,024 (GRCm39)	I140V	probably benign	Het
Osbp	A	G	19: 11,948,085 (GRCm39)	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,901,556 (GRCm39)	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,895,289 (GRCm39)	V120I	probably benign	Het
Pdgfb	A	T	15: 79,881,869 (GRCm39)	V213E	probably benign	Het
Phldb2	T	C	16: 45,583,460 (GRCm39)	M1013V	probably benign	Het
Pnma8a	A	G	7: 16,695,020 (GRCm39)	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,182 (GRCm39)	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,661,136 (GRCm39)	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,646,392 (GRCm39)	S58R	probably damaging	Het
Traf3	C	A	12: 111,221,795 (GRCm39)	Q319K	probably benign	Het
Trappc8	C	T	18: 21,006,977 (GRCm39)	V194M	probably damaging	Het
Tyw1	A	G	5: 130,296,929 (GRCm39)	K182R	probably damaging	Het
Usp48	A	G	4: 137,350,689 (GRCm39)	T585A	probably benign	Het
Xkr6	G	T	14: 64,056,481 (GRCm39)	V387L	probably benign	Het
Yod1	T	C	1: 130,646,743 (GRCm39)	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,046,538 (GRCm39)	S63G	probably null	Het
Zfp827	A	G	8: 79,905,645 (GRCm39)	E874G	probably damaging	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
R5428:Zfy1	UTSW	Y	726,205 (GRCm39)	missense	possibly damaging	0.95
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'- GAAAGATTCTTCCTACAGTCATCAC -3'
(R):5'- GGCCTCTAATGTGATAAAGCTTC -3'

Sequencing Primer
(F):5'- ATTCTTCCTACAGTCATCACATTCAG -3'
(R):5'- AATCCAATCATAGTGAATCAGGTTC -3'

Posted On

2016-12-20