Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00324:Znfx1'

6962

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 #

IGL00324

Quality Score

Status

Chromosome

Chromosomal Location

167035793-167063015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 167036729 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1909 (M1909K)

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

possibly damaging
Transcript: ENSMUST00000048988
AA Change: M1909K

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: M1909K

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: M1045K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: M1045K

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	T	C	3: 121,776,993		probably benign	Het
Cdk12	T	A	11: 98,245,388	L1156Q	unknown	Het
Ctsl	T	C	13: 64,368,168	Y66C	probably damaging	Het
Esd	C	T	14: 74,736,027	H21Y	probably damaging	Het
Fcrlb	A	C	1: 170,908,824	Y128D	possibly damaging	Het
Gm17027	A	T	14: 42,159,310	N196K	unknown	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Hpcal1	A	G	12: 17,791,145	S175G	probably benign	Het
Itgam	A	T	7: 128,085,661	D401V	probably damaging	Het
Kank1	A	G	19: 25,411,758	T932A	probably benign	Het
Lmod1	A	G	1: 135,364,478	K357R	probably benign	Het
Muc4	A	G	16: 32,778,812	I3271V	probably benign	Het
Nlrc5	A	G	8: 94,521,479	K1692E	probably damaging	Het
Ocln	A	G	13: 100,535,013	W279R	probably damaging	Het
Olfr1181	T	C	2: 88,423,786	I80V	probably benign	Het
Pcsk1	A	G	13: 75,132,087	K677R	probably benign	Het
Pitrm1	T	A	13: 6,568,666	L586Q	probably damaging	Het
Plppr3	G	A	10: 79,866,669	S217L	probably damaging	Het
Pnldc1	A	T	17: 12,905,758		probably benign	Het
Pramef12	A	G	4: 144,394,740	L238P	possibly damaging	Het
Pramef8	T	A	4: 143,416,667	M1K	probably null	Het
Sema6b	C	T	17: 56,130,048	D204N	probably damaging	Het
Slc12a5	A	G	2: 164,997,121	N1063S	probably damaging	Het
Tg	T	C	15: 66,693,424	V1205A	probably benign	Het
Tmem260	T	C	14: 48,486,879	F205L	probably benign	Het
Trappc11	A	T	8: 47,503,302		probably benign	Het
Tsen34	A	G	7: 3,700,531	*296W	probably null	Het
Ubr2	A	G	17: 46,986,060		probably benign	Het
Vmn2r23	T	A	6: 123,729,725	W505R	possibly damaging	Het
Wbp11	A	G	6: 136,821,670		probably benign	Het

Other mutations in Znfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Znfx1	APN	2	167036923	missense	probably damaging	1.00
IGL01285:Znfx1	APN	2	167038695	missense	possibly damaging	0.76
IGL01343:Znfx1	APN	2	167037363	missense	probably benign	0.16
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	unclassified	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
R7918:Znfx1	UTSW	2	167039827	missense	probably damaging	1.00
X0064:Znfx1	UTSW	2	167055256	missense	probably damaging	1.00

Posted On

2012-04-20