Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02254:Znfx1'

286537

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 #

IGL02254

Quality Score

Status

Chromosome

Chromosomal Location

166877713-166904935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 166897643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 427 (T427N)

Ref Sequence

ENSEMBL: ENSMUSP00000121598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000128676] [ENSMUST00000155281]

AlphaFold

Q8R151

Predicted Effect

probably damaging
Transcript: ENSMUST00000048988
AA Change: T427N

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

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: T427N

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 damaging
Transcript: ENSMUST00000128676
AA Change: T427N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: T427N

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	837	1.8e-17	PFAM
Pfam:AAA_19	597	684	3.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135967

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155281
AA Change: T427N

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: T427N

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	854	1.7e-17	PFAM
Pfam:AAA_19	597	684	3.6e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	T	C	6: 40,358,180 (GRCm39)	W211R	probably damaging	Het
Cacna1b	T	C	2: 24,506,827 (GRCm39)		probably null	Het
Calcrl	A	G	2: 84,178,552 (GRCm39)	W259R	probably damaging	Het
Cenpe	T	A	3: 134,961,238 (GRCm39)	C1911S	probably benign	Het
Cfhr4	A	G	1: 139,661,143 (GRCm39)		probably benign	Het
Csad	C	A	15: 102,094,872 (GRCm39)	G63*	probably null	Het
H2bc8	G	T	13: 23,755,609 (GRCm39)	M1I	probably null	Het
Hc	G	A	2: 34,874,836 (GRCm39)	A115V	probably damaging	Het
Hepacam2	T	A	6: 3,483,421 (GRCm39)	H196L	probably benign	Het
Kcnh6	G	A	11: 105,911,533 (GRCm39)	E640K	probably damaging	Het
Mrgprx2	G	A	7: 48,132,686 (GRCm39)	T10I	probably benign	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Plin4	G	T	17: 56,411,733 (GRCm39)	T766K	probably damaging	Het
Ric8b	A	G	10: 84,816,000 (GRCm39)	D417G	probably damaging	Het
Rnf213	A	C	11: 119,371,733 (GRCm39)	Q4846P	possibly damaging	Het
Slc15a2	T	C	16: 36,580,449 (GRCm39)	Q320R	possibly damaging	Het
Slc35f3	A	G	8: 127,115,862 (GRCm39)	E263G	probably damaging	Het
Slc5a4b	A	T	10: 75,896,264 (GRCm39)	W564R	probably benign	Het
Taf4	C	T	2: 179,562,977 (GRCm39)	V965M	probably benign	Het
Trpc3	C	T	3: 36,705,669 (GRCm39)	G509R	probably null	Het
Ttn	T	C	2: 76,708,309 (GRCm39)		probably benign	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
IGL01285:Znfx1	APN	2	166,880,615 (GRCm39)	missense	possibly damaging	0.76
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
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

2015-04-16