Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Zfx'

368291

Institutional Source

Beutler Lab

Gene Symbol

Zfx

Ensembl Gene

ENSMUSG00000079509

Gene Name

zinc finger protein X-linked

Synonyms

Zfx5,6, Zfx6, Zfx5

MMRRC Submission

041637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R4133 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

93118237-93167308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93124464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 360 (N360D)

Ref Sequence

ENSEMBL: ENSMUSP00000109560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088102] [ENSMUST00000113926] [ENSMUST00000113927] [ENSMUST00000137853]

AlphaFold

P17012

Predicted Effect

probably damaging
Transcript: ENSMUST00000088102
AA Change: N360D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085423
Gene: ENSMUSG00000079509
AA Change: N360D

Domain	Start	End	E-Value	Type
Pfam:Zfx_Zfy_act	71	404	9.2e-153	PFAM
ZnF_C2H2	419	441	2.65e-5	SMART
ZnF_C2H2	450	472	1.45e-2	SMART
ZnF_C2H2	482	504	7.26e-3	SMART
ZnF_C2H2	513	536	3.11e-2	SMART
ZnF_C2H2	542	564	3.69e-4	SMART
ZnF_C2H2	570	593	4.79e-3	SMART
ZnF_C2H2	599	621	2.02e-1	SMART
ZnF_C2H2	627	650	1.53e-1	SMART
ZnF_C2H2	656	678	2.57e-3	SMART
ZnF_C2H2	684	707	3.52e-1	SMART
ZnF_C2H2	713	735	1.12e-3	SMART
ZnF_C2H2	741	764	1.28e-3	SMART
ZnF_C2H2	770	792	2.91e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113926
AA Change: N360D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109559
Gene: ENSMUSG00000079509
AA Change: N360D

Domain	Start	End	E-Value	Type
Pfam:Zfx_Zfy_act	70	404	4.3e-169	PFAM
ZnF_C2H2	419	441	2.65e-5	SMART
ZnF_C2H2	450	472	1.45e-2	SMART
ZnF_C2H2	482	504	7.26e-3	SMART
ZnF_C2H2	513	536	3.11e-2	SMART
ZnF_C2H2	542	564	3.69e-4	SMART
ZnF_C2H2	570	593	4.79e-3	SMART
ZnF_C2H2	599	621	2.02e-1	SMART
ZnF_C2H2	627	650	1.53e-1	SMART
ZnF_C2H2	656	678	2.57e-3	SMART
ZnF_C2H2	684	707	3.52e-1	SMART
ZnF_C2H2	713	735	1.12e-3	SMART
ZnF_C2H2	741	764	1.28e-3	SMART
ZnF_C2H2	770	792	2.91e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113927
AA Change: N360D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109560
Gene: ENSMUSG00000079509
AA Change: N360D

Domain	Start	End	E-Value	Type
Pfam:Zfx_Zfy_act	70	404	4.3e-169	PFAM
ZnF_C2H2	419	441	2.65e-5	SMART
ZnF_C2H2	450	472	1.45e-2	SMART
ZnF_C2H2	482	504	7.26e-3	SMART
ZnF_C2H2	513	536	3.11e-2	SMART
ZnF_C2H2	542	564	3.69e-4	SMART
ZnF_C2H2	570	593	4.79e-3	SMART
ZnF_C2H2	599	621	2.02e-1	SMART
ZnF_C2H2	627	650	1.53e-1	SMART
ZnF_C2H2	656	678	2.57e-3	SMART
ZnF_C2H2	684	707	3.52e-1	SMART
ZnF_C2H2	713	735	1.12e-3	SMART
ZnF_C2H2	741	764	1.28e-3	SMART
ZnF_C2H2	770	792	2.91e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137853

SMART Domains

Protein: ENSMUSP00000118903
Gene: ENSMUSG00000079509

Domain	Start	End	E-Value	Type
Pfam:Zfx_Zfy_act	70	216	5.4e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139695

Meta Mutation Damage Score

0.4642

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous or female mice homozygous for one knock-out allele exhibit reduced size, viability, and gametes. Another knock-out allele generates mice that exhibit embryonic lethality associated with abnormal extraembryonic tissue and reduction in hematopoietic stem cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,677,280 (GRCm39)		noncoding transcript	Het
Aldh3b1	A	G	19: 3,970,808 (GRCm39)	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,300 (GRCm39)		probably benign	Het
Arhgef4	A	G	1: 34,845,185 (GRCm39)	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,644,622 (GRCm39)	T52A	probably benign	Het
Asb6	A	G	2: 30,718,247 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,889,567 (GRCm39)	V482A	probably benign	Het
Bop1	T	C	15: 76,338,535 (GRCm39)	N469S	probably benign	Het
Btaf1	T	A	19: 36,939,138 (GRCm39)	N266K	probably benign	Het
Btla	T	C	16: 45,059,661 (GRCm39)	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,323,370 (GRCm39)	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,287,976 (GRCm39)	S524P	probably benign	Het
Cep78	A	G	19: 15,946,519 (GRCm39)	S438P	probably damaging	Het
Clca4a	T	G	3: 144,675,113 (GRCm39)	E171D	probably benign	Het
Cldn6	A	T	17: 23,900,467 (GRCm39)	I144F	probably damaging	Het
Cpd	G	A	11: 76,705,644 (GRCm39)	Q363*	probably null	Het
Cpn1	G	A	19: 43,974,723 (GRCm39)	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,748,864 (GRCm39)	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,472,065 (GRCm39)	S368L	probably damaging	Het
Ddx60	A	G	8: 62,425,254 (GRCm39)	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,383,980 (GRCm39)	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,869,223 (GRCm39)		probably null	Het
Dnah7c	G	T	1: 46,705,150 (GRCm39)	A2388S	probably benign	Het
Etv4	C	A	11: 101,661,324 (GRCm39)	K442N	probably damaging	Het
Fam234a	T	C	17: 26,432,532 (GRCm39)	D539G	probably damaging	Het
Fancm	A	G	12: 65,167,304 (GRCm39)	T1538A	probably benign	Het
Fbn2	A	T	18: 58,229,034 (GRCm39)	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,741,130 (GRCm39)	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,046,418 (GRCm39)	V1229A	probably damaging	Het
Garin4	A	T	1: 190,895,205 (GRCm39)	N479K	probably benign	Het
Gm5471	A	T	15: 44,835,297 (GRCm39)		noncoding transcript	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm6729	C	A	10: 86,377,030 (GRCm39)		noncoding transcript	Het
Hectd4	G	T	5: 121,415,897 (GRCm39)		probably null	Het
Hspb3	A	C	13: 113,800,027 (GRCm39)	M1R	probably null	Het
Igkv10-95	T	C	6: 68,657,601 (GRCm39)	V19A	probably damaging	Het
Il1rap	A	G	16: 26,541,636 (GRCm39)	S626G	probably benign	Het
Ints9	A	G	14: 65,228,003 (GRCm39)	H103R	probably benign	Het
Itga4	T	A	2: 79,152,996 (GRCm39)	D894E	probably damaging	Het
Khsrp	T	C	17: 57,332,605 (GRCm39)	H225R	probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lama1	A	T	17: 68,119,481 (GRCm39)	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,892,497 (GRCm39)	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,842,482 (GRCm39)	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,555,877 (GRCm39)	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Nckap5	A	G	1: 126,150,443 (GRCm39)	V162A	probably benign	Het
Nr3c2	T	C	8: 77,636,378 (GRCm39)	I493T	probably damaging	Het
Or2ag16	A	C	7: 106,352,286 (GRCm39)	L103R	probably damaging	Het
Or2t46	A	T	11: 58,471,901 (GRCm39)	Y77F	probably damaging	Het
Or9s15	T	C	1: 92,524,465 (GRCm39)	F75L	probably benign	Het
Papola	A	G	12: 105,765,917 (GRCm39)	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,306,289 (GRCm39)	R36Q	probably benign	Het
Ptpro	G	T	6: 137,397,370 (GRCm39)	W81C	probably damaging	Het
Rasgrf2	A	G	13: 92,130,773 (GRCm39)	S162P	possibly damaging	Het
Rpusd2	T	C	2: 118,869,196 (GRCm39)	S540P	probably damaging	Het
Scn5a	T	A	9: 119,315,438 (GRCm39)	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,900,206 (GRCm39)	I1154V	probably benign	Het
Sirt1	T	C	10: 63,171,438 (GRCm39)	I209V	probably null	Het
Slco6c1	T	A	1: 97,009,218 (GRCm39)	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947 (GRCm39)	E255G	probably damaging	Het
Snap91	C	A	9: 86,659,102 (GRCm39)	G477V	probably damaging	Het
Speg	A	G	1: 75,404,548 (GRCm39)	Q2780R	probably benign	Het
Spmap2	T	C	10: 79,415,884 (GRCm39)	T236A	probably damaging	Het
Ssh2	A	G	11: 77,312,095 (GRCm39)	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,235,845 (GRCm39)	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,028,481 (GRCm39)	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968 (GRCm39)	Y69C	probably damaging	Het
Thoc3	T	C	13: 54,616,361 (GRCm39)	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trps1	T	C	15: 50,694,783 (GRCm39)	K213R	probably damaging	Het
Uggt1	A	T	1: 36,197,240 (GRCm39)	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,183,138 (GRCm39)	Y187F	probably damaging	Het
Washc2	G	A	6: 116,235,891 (GRCm39)	E1121K	probably damaging	Het
Znhit3	A	G	11: 84,807,139 (GRCm39)	V10A	probably benign	Het

Other mutations in Zfx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3706:Zfx	UTSW	X	93,142,413 (GRCm39)	missense	possibly damaging	0.86
R3707:Zfx	UTSW	X	93,142,413 (GRCm39)	missense	possibly damaging	0.86
Z1088:Zfx	UTSW	X	93,123,049 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATACCCCTGTGGATGCAC -3'
(R):5'- CCATTTTGGAAGCTAGGCATTTC -3'

Sequencing Primer
(F):5'- CACTAGCATTGCCTGAGAGCTTG -3'
(R):5'- AAGCTAGGCATTTCCAGTGGTC -3'

Posted On

2016-01-20