Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01285:Znfx1'

72689

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01285

Quality Score

Status

Chromosome

Chromosomal Location

166877713-166904935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 166880615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 390 (R390C)

Ref Sequence

ENSEMBL: ENSMUSP00000072867 (fasta)

Gene Model

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

AlphaFold

Q8R151

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

possibly damaging
Transcript: ENSMUST00000048988
AA Change: R1254C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: R1254C

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

possibly damaging
Transcript: ENSMUST00000067584
AA Change: R390C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: R390C

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,610 (GRCm39)	N599S	probably benign	Het
Adam6a	A	T	12: 113,509,893 (GRCm39)	*755Y	probably null	Het
Adgrb3	G	T	1: 25,132,868 (GRCm39)	T1166K	probably benign	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Ano1	A	G	7: 144,149,275 (GRCm39)	V862A	probably damaging	Het
Asap2	C	T	12: 21,279,264 (GRCm39)	A382V	probably damaging	Het
Asb18	A	G	1: 89,923,963 (GRCm39)	V100A	probably benign	Het
Bdnf	G	A	2: 109,553,931 (GRCm39)	A102T	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Cfap47	A	G	X: 78,532,764 (GRCm39)	I767T	possibly damaging	Het
Des	G	A	1: 75,339,227 (GRCm39)	A251T	probably benign	Het
Dmd	C	T	X: 84,153,590 (GRCm39)	Q3224*	probably null	Het
Endog	G	T	2: 30,061,975 (GRCm39)		probably null	Het
Ggt7	A	G	2: 155,342,691 (GRCm39)	V269A	probably damaging	Het
Gucy2c	A	G	6: 136,686,739 (GRCm39)	F808S	probably damaging	Het
Hira	A	G	16: 18,730,930 (GRCm39)	T210A	probably benign	Het
Ifitm5	C	A	7: 140,530,076 (GRCm39)	R16L	probably benign	Het
Igdcc4	T	C	9: 65,031,273 (GRCm39)	C404R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Irf9	A	G	14: 55,845,058 (GRCm39)	E258G	probably damaging	Het
Megf11	T	C	9: 64,567,728 (GRCm39)	C406R	probably damaging	Het
Olfml1	A	G	7: 107,189,364 (GRCm39)	N143S	possibly damaging	Het
Or4m1	A	G	14: 50,557,713 (GRCm39)	F193S	possibly damaging	Het
Or6c66b	T	A	10: 129,376,711 (GRCm39)	F102I	probably benign	Het
Or7g30	A	G	9: 19,352,266 (GRCm39)	D19G	probably benign	Het
Otof	G	T	5: 30,562,527 (GRCm39)	Q254K	probably damaging	Het
Pate7	A	T	9: 35,688,044 (GRCm39)	N65K	possibly damaging	Het
Plcd3	A	G	11: 102,968,696 (GRCm39)	F332L	probably benign	Het
Plxnc1	T	C	10: 94,635,230 (GRCm39)	D1332G	probably damaging	Het
Rnasel	A	T	1: 153,634,130 (GRCm39)	D521V	probably benign	Het
Sema5a	T	A	15: 32,575,143 (GRCm39)	V417D	possibly damaging	Het
Senp6	G	A	9: 80,044,000 (GRCm39)	R877Q	probably benign	Het
Shroom2	A	T	X: 151,442,353 (GRCm39)	D937E	probably damaging	Het
Slc35a3	A	G	3: 116,488,262 (GRCm39)	S142P	probably damaging	Het
Srpx	A	T	X: 9,905,298 (GRCm39)	V398E	probably damaging	Het
Stk10	A	T	11: 32,560,653 (GRCm39)	K669N	possibly damaging	Het
Sumf2	A	G	5: 129,878,811 (GRCm39)	D49G	probably damaging	Het
Syde1	T	A	10: 78,424,721 (GRCm39)	E370D	probably damaging	Het
Tas2r115	G	T	6: 132,714,641 (GRCm39)	S103R	probably damaging	Het
Top2a	G	A	11: 98,896,985 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,550,842 (GRCm39)	T23190S	probably damaging	Het
Ttyh3	C	A	5: 140,615,167 (GRCm39)	C407F	probably damaging	Het
Vmn2r27	G	T	6: 124,169,370 (GRCm39)	H587N	possibly damaging	Het
Vmn2r74	A	G	7: 85,606,692 (GRCm39)	I218T	possibly damaging	Het
Vsig10	A	G	5: 117,462,954 (GRCm39)	N60S	probably benign	Het
Zc3h7a	A	G	16: 10,956,979 (GRCm39)	S877P	probably damaging	Het
Zfp979	G	T	4: 147,699,853 (GRCm39)	T29N	probably damaging	Het

Other mutations in Znfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Znfx1	APN	2	166,878,649 (GRCm39)	missense	possibly damaging	0.65
IGL00492:Znfx1	APN	2	166,878,843 (GRCm39)	missense	probably damaging	1.00
IGL01343:Znfx1	APN	2	166,879,283 (GRCm39)	missense	probably benign	0.16
IGL01767:Znfx1	APN	2	166,897,643 (GRCm39)	missense	probably damaging	1.00
IGL01983:Znfx1	APN	2	166,898,270 (GRCm39)	missense	probably damaging	1.00
IGL02006:Znfx1	APN	2	166,897,683 (GRCm39)	missense	probably damaging	1.00
IGL02254:Znfx1	APN	2	166,897,643 (GRCm39)	missense	probably damaging	1.00
IGL02421:Znfx1	APN	2	166,902,000 (GRCm39)	missense	probably damaging	0.97
IGL02496:Znfx1	APN	2	166,889,550 (GRCm39)	missense	possibly damaging	0.83
IGL02525:Znfx1	APN	2	166,879,457 (GRCm39)	missense	probably benign	0.00
IGL02528:Znfx1	APN	2	166,892,324 (GRCm39)	missense	probably benign	0.11
IGL02537:Znfx1	APN	2	166,898,087 (GRCm39)	missense	probably benign	0.37
IGL03065:Znfx1	APN	2	166,897,685 (GRCm39)	missense	probably benign	0.00
raywing	UTSW	2	166,879,738 (GRCm39)	missense	probably damaging	1.00
sharkfin	UTSW	2	166,898,237 (GRCm39)	missense	probably benign	0.03
skate	UTSW	2	166,880,137 (GRCm39)	missense	probably benign	0.06
R0127:Znfx1	UTSW	2	166,886,130 (GRCm39)	missense	possibly damaging	0.84
R0331:Znfx1	UTSW	2	166,888,898 (GRCm39)	missense	probably benign	0.11
R0488:Znfx1	UTSW	2	166,884,483 (GRCm39)	missense	possibly damaging	0.52
R0497:Znfx1	UTSW	2	166,897,331 (GRCm39)	missense	probably benign	0.03
R0537:Znfx1	UTSW	2	166,883,621 (GRCm39)	missense	probably damaging	1.00
R0542:Znfx1	UTSW	2	166,897,575 (GRCm39)	missense	probably damaging	1.00
R0650:Znfx1	UTSW	2	166,889,574 (GRCm39)	nonsense	probably null
R0655:Znfx1	UTSW	2	166,898,827 (GRCm39)	missense	probably damaging	1.00
R1104:Znfx1	UTSW	2	166,897,560 (GRCm39)	nonsense	probably null
R1470:Znfx1	UTSW	2	166,884,507 (GRCm39)	missense	possibly damaging	0.91
R1470:Znfx1	UTSW	2	166,884,507 (GRCm39)	missense	possibly damaging	0.91
R1512:Znfx1	UTSW	2	166,898,237 (GRCm39)	missense	probably benign	0.03
R1533:Znfx1	UTSW	2	166,898,708 (GRCm39)	missense	probably benign	0.10
R1541:Znfx1	UTSW	2	166,898,110 (GRCm39)	missense	probably damaging	0.99
R1642:Znfx1	UTSW	2	166,880,930 (GRCm39)	missense	possibly damaging	0.95
R1720:Znfx1	UTSW	2	166,885,986 (GRCm39)	nonsense	probably null
R1760:Znfx1	UTSW	2	166,881,786 (GRCm39)	missense	probably damaging	0.96
R1865:Znfx1	UTSW	2	166,880,729 (GRCm39)	missense	probably damaging	1.00
R1959:Znfx1	UTSW	2	166,892,270 (GRCm39)	missense	probably damaging	1.00
R2088:Znfx1	UTSW	2	166,897,730 (GRCm39)	missense	probably damaging	1.00
R4581:Znfx1	UTSW	2	166,892,236 (GRCm39)	missense	probably damaging	1.00
R4622:Znfx1	UTSW	2	166,883,673 (GRCm39)	missense	possibly damaging	0.91
R4649:Znfx1	UTSW	2	166,898,276 (GRCm39)	missense	probably benign	0.08
R4685:Znfx1	UTSW	2	166,880,950 (GRCm39)	missense	probably damaging	1.00
R4798:Znfx1	UTSW	2	166,880,489 (GRCm39)	splice site	probably null
R4827:Znfx1	UTSW	2	166,886,151 (GRCm39)	missense	possibly damaging	0.77
R4870:Znfx1	UTSW	2	166,897,189 (GRCm39)	missense	probably benign
R4910:Znfx1	UTSW	2	166,879,402 (GRCm39)	missense	probably benign	0.00
R4910:Znfx1	UTSW	2	166,878,724 (GRCm39)	missense	probably damaging	1.00
R5022:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5023:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5057:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5061:Znfx1	UTSW	2	166,907,318 (GRCm39)	unclassified	probably benign
R5119:Znfx1	UTSW	2	166,907,307 (GRCm39)	unclassified	probably benign
R5125:Znfx1	UTSW	2	166,888,859 (GRCm39)	missense	possibly damaging	0.81
R5896:Znfx1	UTSW	2	166,880,920 (GRCm39)	missense	probably damaging	1.00
R6107:Znfx1	UTSW	2	166,879,001 (GRCm39)	missense	possibly damaging	0.67
R6112:Znfx1	UTSW	2	166,880,126 (GRCm39)	missense	probably benign
R6158:Znfx1	UTSW	2	166,898,646 (GRCm39)	missense	probably benign	0.19
R6281:Znfx1	UTSW	2	166,897,805 (GRCm39)	missense	probably damaging	1.00
R6464:Znfx1	UTSW	2	166,888,842 (GRCm39)	missense	probably benign	0.34
R6749:Znfx1	UTSW	2	166,898,519 (GRCm39)	missense	probably benign	0.00
R6888:Znfx1	UTSW	2	166,880,860 (GRCm39)	missense	possibly damaging	0.91
R6973:Znfx1	UTSW	2	166,898,681 (GRCm39)	missense	probably benign	0.18
R7017:Znfx1	UTSW	2	166,890,454 (GRCm39)	missense	probably damaging	1.00
R7138:Znfx1	UTSW	2	166,898,697 (GRCm39)	missense	probably benign	0.03
R7192:Znfx1	UTSW	2	166,884,110 (GRCm39)	missense	probably benign	0.00
R7426:Znfx1	UTSW	2	166,890,475 (GRCm39)	missense	probably damaging	1.00
R7431:Znfx1	UTSW	2	166,897,712 (GRCm39)	missense	probably damaging	1.00
R7473:Znfx1	UTSW	2	166,880,744 (GRCm39)	missense	probably damaging	1.00
R7593:Znfx1	UTSW	2	166,898,145 (GRCm39)	missense	probably benign	0.28
R7732:Znfx1	UTSW	2	166,884,589 (GRCm39)	missense	possibly damaging	0.91
R7835:Znfx1	UTSW	2	166,881,747 (GRCm39)	missense	probably damaging	1.00
R7993:Znfx1	UTSW	2	166,897,857 (GRCm39)	nonsense	probably null
R8154:Znfx1	UTSW	2	166,897,157 (GRCm39)	missense	probably damaging	1.00
R8351:Znfx1	UTSW	2	166,897,575 (GRCm39)	missense	probably damaging	1.00
R8790:Znfx1	UTSW	2	166,892,500 (GRCm39)	intron	probably benign
R8953:Znfx1	UTSW	2	166,897,421 (GRCm39)	missense	probably damaging	1.00
R9005:Znfx1	UTSW	2	166,880,656 (GRCm39)	missense
R9131:Znfx1	UTSW	2	166,892,298 (GRCm39)	missense	probably benign
R9163:Znfx1	UTSW	2	166,898,261 (GRCm39)	missense	probably damaging	1.00
R9169:Znfx1	UTSW	2	166,897,185 (GRCm39)	missense	probably benign
R9181:Znfx1	UTSW	2	166,880,137 (GRCm39)	missense	probably benign	0.06
R9181:Znfx1	UTSW	2	166,879,738 (GRCm39)	missense	probably damaging	1.00
R9300:Znfx1	UTSW	2	166,897,860 (GRCm39)	missense	probably damaging	1.00
R9448:Znfx1	UTSW	2	166,888,844 (GRCm39)	missense	probably benign	0.04
R9569:Znfx1	UTSW	2	166,897,875 (GRCm39)	missense
X0064:Znfx1	UTSW	2	166,897,176 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07