Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01343:Znfx1'

74943

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

167035793-167063015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167037363 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1698 (I1698V)

Ref Sequence

ENSEMBL: ENSMUSP00000049404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000048988] [ENSMUST00000067584]

Predicted Effect

probably benign
Transcript: ENSMUST00000018143

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
coiled coil region	78	106	N/A	INTRINSIC
low complexity region	133	148	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC
DEXDc	203	404	2.24e-56	SMART
HELICc	443	524	1.71e-29	SMART
coiled coil region	577	613	N/A	INTRINSIC
low complexity region	622	629	N/A	INTRINSIC
low complexity region	644	657	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048988
AA Change: I1698V

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: I1698V

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	855	2.2e-17	PFAM
Pfam:AAA_19	597	684	1.7e-10	PFAM
Pfam:AAA_11	829	1033	1.4e-18	PFAM
Pfam:AAA_12	1044	1228	3.7e-42	PFAM
internal_repeat_2	1281	1374	1.33e-7	PROSPERO
internal_repeat_1	1292	1410	1.32e-16	PROSPERO
low complexity region	1422	1433	N/A	INTRINSIC
internal_repeat_1	1434	1547	1.32e-16	PROSPERO
internal_repeat_2	1453	1555	1.33e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000067584
AA Change: I834V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: I834V

Domain	Start	End	E-Value	Type
Pfam:AAA_11	8	170	1.2e-17	PFAM
Pfam:AAA_12	180	364	7.4e-42	PFAM
internal_repeat_2	417	510	1.08e-6	PROSPERO
internal_repeat_1	428	546	1.81e-14	PROSPERO
low complexity region	558	569	N/A	INTRINSIC
internal_repeat_1	570	683	1.81e-14	PROSPERO
internal_repeat_2	589	691	1.08e-6	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127468

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,150,702	Q1191R	probably benign	Het
Abcd2	A	T	15: 91,149,213		probably benign	Het
Adgrf1	T	A	17: 43,313,195	F835L	probably null	Het
Akp3	G	T	1: 87,127,136		probably benign	Het
BC106179	G	T	16: 23,224,287		probably benign	Het
Bysl	C	A	17: 47,601,889	M325I	probably benign	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Crnn	A	G	3: 93,148,326	R140G	probably benign	Het
Cts8	T	C	13: 61,249,196		probably benign	Het
Cxcr4	T	C	1: 128,589,555	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,984,581	T691A	probably benign	Het
Dhx30	A	T	9: 110,086,245	F782I	probably benign	Het
Efcab5	C	T	11: 77,129,930	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,422,089	V381I	probably benign	Het
Enpp3	A	T	10: 24,805,922	Y295*	probably null	Het
Fbxo28	T	C	1: 182,317,012	E329G	probably damaging	Het
Fmnl2	T	A	2: 53,123,545	V972D	probably damaging	Het
Fmr1	A	G	X: 68,688,295	D22G	probably damaging	Het
Fsip2	A	G	2: 82,999,819	T6886A	possibly damaging	Het
Gadl1	A	G	9: 116,074,112	*503W	probably null	Het
Gpc6	A	T	14: 117,186,812	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,826,976	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,615,586	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,608,463	N412K	probably damaging	Het
Marco	C	T	1: 120,494,740		probably null	Het
Mdga2	T	C	12: 66,723,109	T206A	probably damaging	Het
Mogat2	C	A	7: 99,232,568	A54S	possibly damaging	Het
Myh15	T	A	16: 49,155,677	D1369E	probably benign	Het
Nckap1	A	T	2: 80,519,842	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,325,486		probably null	Het
Nfrkb	C	A	9: 31,388,954	L14I	probably damaging	Het
Notch1	C	A	2: 26,472,905	A950S	probably benign	Het
Notch3	T	C	17: 32,143,436	E1405G	probably benign	Het
Nsd2	C	A	5: 33,843,578	D146E	probably damaging	Het
Oc90	T	C	15: 65,889,591	T193A	probably benign	Het
Olfr1090	T	A	2: 86,754,499	K80*	probably null	Het
Olfr1356	A	T	10: 78,847,597	V106E	probably damaging	Het
Olfr150	C	A	9: 39,737,715	A300D	probably damaging	Het
Orc2	A	T	1: 58,492,855		probably null	Het
Pacsin2	T	C	15: 83,386,686	H254R	probably damaging	Het
Pif1	T	A	9: 65,589,562	M319K	probably damaging	Het
Prag1	G	A	8: 36,103,046	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,638,839	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,660,054	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 63,927,315	Q828*	probably null	Het
Skint6	A	G	4: 113,283,626	V6A	probably benign	Het
Slc16a13	A	G	11: 70,220,514	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,425,629	W490R	probably damaging	Het
Speer4b	G	T	5: 27,497,883	H208N	probably benign	Het
Tas2r124	T	C	6: 132,755,415	L229S	probably damaging	Het
Tlr4	T	C	4: 66,833,887		probably benign	Het
Tmed1	G	T	9: 21,510,073	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,796,031		probably benign	Het
Ugt2b34	A	G	5: 86,904,388	S250P	possibly damaging	Het
Zfp516	A	G	18: 82,993,096	T1085A	probably damaging	Het
Zswim8	G	T	14: 20,713,341	W385C	probably damaging	Het

Other mutations in Znfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Znfx1	APN	2	167036729	missense	possibly damaging	0.65
IGL00492:Znfx1	APN	2	167036923	missense	probably damaging	1.00
IGL01285:Znfx1	APN	2	167038695	missense	possibly damaging	0.76
IGL01767:Znfx1	APN	2	167055723	missense	probably damaging	1.00
IGL01983:Znfx1	APN	2	167056350	missense	probably damaging	1.00
IGL02006:Znfx1	APN	2	167055763	missense	probably damaging	1.00
IGL02254:Znfx1	APN	2	167055723	missense	probably damaging	1.00
IGL02421:Znfx1	APN	2	167060080	missense	probably damaging	0.97
IGL02496:Znfx1	APN	2	167047630	missense	possibly damaging	0.83
IGL02525:Znfx1	APN	2	167037537	missense	probably benign	0.00
IGL02528:Znfx1	APN	2	167050404	missense	probably benign	0.11
IGL02537:Znfx1	APN	2	167056167	missense	probably benign	0.37
IGL03065:Znfx1	APN	2	167055765	missense	probably benign	0.00
R0127:Znfx1	UTSW	2	167044210	missense	possibly damaging	0.84
R0331:Znfx1	UTSW	2	167046978	missense	probably benign	0.11
R0488:Znfx1	UTSW	2	167042563	missense	possibly damaging	0.52
R0497:Znfx1	UTSW	2	167055411	missense	probably benign	0.03
R0537:Znfx1	UTSW	2	167041701	missense	probably damaging	1.00
R0542:Znfx1	UTSW	2	167055655	missense	probably damaging	1.00
R0650:Znfx1	UTSW	2	167047654	nonsense	probably null
R0655:Znfx1	UTSW	2	167056907	missense	probably damaging	1.00
R1104:Znfx1	UTSW	2	167055640	nonsense	probably null
R1470:Znfx1	UTSW	2	167042587	missense	possibly damaging	0.91
R1470:Znfx1	UTSW	2	167042587	missense	possibly damaging	0.91
R1512:Znfx1	UTSW	2	167056317	missense	probably benign	0.03
R1533:Znfx1	UTSW	2	167056788	missense	probably benign	0.10
R1541:Znfx1	UTSW	2	167056190	missense	probably damaging	0.99
R1642:Znfx1	UTSW	2	167039010	missense	possibly damaging	0.95
R1720:Znfx1	UTSW	2	167044066	nonsense	probably null
R1760:Znfx1	UTSW	2	167039866	missense	probably damaging	0.96
R1865:Znfx1	UTSW	2	167038809	missense	probably damaging	1.00
R1959:Znfx1	UTSW	2	167050350	missense	probably damaging	1.00
R2088:Znfx1	UTSW	2	167055810	missense	probably damaging	1.00
R4581:Znfx1	UTSW	2	167050316	missense	probably damaging	1.00
R4622:Znfx1	UTSW	2	167041753	missense	possibly damaging	0.91
R4649:Znfx1	UTSW	2	167056356	missense	probably benign	0.08
R4685:Znfx1	UTSW	2	167039030	missense	probably damaging	1.00
R4798:Znfx1	UTSW	2	167038569	splice site	probably null
R4827:Znfx1	UTSW	2	167044231	missense	possibly damaging	0.77
R4870:Znfx1	UTSW	2	167055269	missense	probably benign
R4910:Znfx1	UTSW	2	167036804	missense	probably damaging	1.00
R4910:Znfx1	UTSW	2	167037482	missense	probably benign	0.00
R5022:Znfx1	UTSW	2	167039826	missense	probably damaging	1.00
R5023:Znfx1	UTSW	2	167039826	missense	probably damaging	1.00
R5057:Znfx1	UTSW	2	167039826	missense	probably damaging	1.00
R5061:Znfx1	UTSW	2	167065398	unclassified	probably benign
R5119:Znfx1	UTSW	2	167065387	unclassified	probably benign
R5125:Znfx1	UTSW	2	167046939	missense	possibly damaging	0.81
R5896:Znfx1	UTSW	2	167039000	missense	probably damaging	1.00
R6107:Znfx1	UTSW	2	167037081	missense	possibly damaging	0.67
R6112:Znfx1	UTSW	2	167038206	missense	probably benign
R6158:Znfx1	UTSW	2	167056726	missense	probably benign	0.19
R6281:Znfx1	UTSW	2	167055885	missense	probably damaging	1.00
R6464:Znfx1	UTSW	2	167046922	missense	probably benign	0.34
R6749:Znfx1	UTSW	2	167056599	missense	probably benign	0.00
R6888:Znfx1	UTSW	2	167038940	missense	possibly damaging	0.91
R6973:Znfx1	UTSW	2	167056761	missense	probably benign	0.18
R7017:Znfx1	UTSW	2	167048534	missense	probably damaging	1.00
R7138:Znfx1	UTSW	2	167056777	missense	probably benign	0.03
R7192:Znfx1	UTSW	2	167042190	missense	probably benign	0.00
R7426:Znfx1	UTSW	2	167048555	missense	probably damaging	1.00
R7431:Znfx1	UTSW	2	167055792	missense	probably damaging	1.00
R7473:Znfx1	UTSW	2	167038824	missense	probably damaging	1.00
R7593:Znfx1	UTSW	2	167056225	missense	probably benign	0.28
R7732:Znfx1	UTSW	2	167042669	missense	possibly damaging	0.91
R7835:Znfx1	UTSW	2	167039827	missense	probably damaging	1.00
R7993:Znfx1	UTSW	2	167055937	nonsense	probably null
R8154:Znfx1	UTSW	2	167055237	missense	probably damaging	1.00
R8351:Znfx1	UTSW	2	167055655	missense	probably damaging	1.00
X0064:Znfx1	UTSW	2	167055256	missense	probably damaging	1.00

Posted On

2013-10-07