Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Znfx1'

40516

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167035793-167063015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167055411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 531 (Q531L)

Ref Sequence

ENSEMBL: ENSMUSP00000121750 (fasta)

Gene Model

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

AlphaFold

Q8R151

Predicted Effect

probably benign
Transcript: ENSMUST00000048988
AA Change: Q531L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Q531L

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: ENSMUST00000128676
AA Change: Q531L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: Q531L

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

probably benign
Transcript: ENSMUST00000155281
AA Change: Q531L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: Q531L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	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
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
raywing	UTSW	2	167037818	missense	probably damaging	1.00
sharkfin	UTSW	2	167056317	missense	probably benign	0.03
skate	UTSW	2	167038217	missense	probably benign	0.06
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
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
R8790:Znfx1	UTSW	2	167050580	intron	probably benign
R8953:Znfx1	UTSW	2	167055501	missense	probably damaging	1.00
R9005:Znfx1	UTSW	2	167038736	missense
R9131:Znfx1	UTSW	2	167050378	missense	probably benign
R9163:Znfx1	UTSW	2	167056341	missense	probably damaging	1.00
R9169:Znfx1	UTSW	2	167055265	missense	probably benign
R9181:Znfx1	UTSW	2	167037818	missense	probably damaging	1.00
R9181:Znfx1	UTSW	2	167038217	missense	probably benign	0.06
R9300:Znfx1	UTSW	2	167055940	missense	probably damaging	1.00
R9448:Znfx1	UTSW	2	167046924	missense	probably benign	0.04
R9569:Znfx1	UTSW	2	167055955	missense
X0064:Znfx1	UTSW	2	167055256	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGAACTGTAAGGCTTCCATCTG -3'
(R):5'- TGCCACCGTTTCAAACCGAGAG -3'

Sequencing Primer
(F):5'- TGGGAGTCATCCAGCTTCAG -3'
(R):5'- AAGATCTCTGCCAAGGGATTGTC -3'

Posted On

2013-05-23