Mutagenetix > Incidental Mutations

Incidental Mutation 'R6464:Znfx1'

517717

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

167035793-167063015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167046922 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 789 (S789G)

Ref Sequence

ENSEMBL: ENSMUSP00000121598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]

Predicted Effect

probably benign
Transcript: ENSMUST00000048988
AA Change: S789G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: S789G

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

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501

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

probably benign
Transcript: ENSMUST00000128676
AA Change: S789G

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: S789G

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: S789G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: S789G

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,447,490	S769T	probably damaging	Het
Apoe	G	A	7: 19,697,536	T52M	probably damaging	Het
Arhgef10l	A	C	4: 140,586,815	M230R	probably benign	Het
Cdkl4	A	T	17: 80,525,352	I321N	probably benign	Het
Ceacam5	T	C	7: 17,747,466		probably null	Het
Cfap70	T	C	14: 20,401,039		probably null	Het
Clasp2	A	G	9: 113,773,717	Y195C	probably damaging	Het
Clip2	T	C	5: 134,491,925	I999V	probably benign	Het
Cntnap5a	A	G	1: 116,184,408	D476G	probably benign	Het
Col6a6	C	T	9: 105,788,953	M1I	probably null	Het
Cyp27a1	T	C	1: 74,735,888	V292A	possibly damaging	Het
Cyp2c29	A	G	19: 39,329,225	Y385C	probably damaging	Het
Dsg3	A	C	18: 20,533,526	R597S	probably benign	Het
Fam131c	T	C	4: 141,382,342	I95T	probably damaging	Het
Fam13b	A	T	18: 34,473,631	C302*	probably null	Het
Fkbp15	T	C	4: 62,308,078	K745E	possibly damaging	Het
Flg	T	A	3: 93,281,381		probably benign	Het
Gm11559	T	C	11: 99,864,716	C64R	unknown	Het
Gm14025	T	C	2: 129,039,545	T154A	possibly damaging	Het
Gm35339	A	G	15: 76,362,777	T1413A	probably benign	Het
Helt	T	C	8: 46,292,534	D104G	probably damaging	Het
Helz2	T	C	2: 181,235,069	T1211A	probably benign	Het
Ifna9	T	C	4: 88,592,250	R46G	possibly damaging	Het
Kif20b	G	A	19: 34,934,441	V235I	probably benign	Het
Kif7	A	G	7: 79,714,094	V22A	possibly damaging	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Lipf	A	T	19: 33,973,544	Y305F	probably benign	Het
Lpar1	A	G	4: 58,486,875	L132P	possibly damaging	Het
Magi1	A	T	6: 93,699,789	V834E	probably damaging	Het
Meltf	T	C	16: 31,890,776	Y432H	probably benign	Het
Mroh2a	G	C	1: 88,257,802	E1510D	probably damaging	Het
Myo1f	T	C	17: 33,576,647	L59P	probably damaging	Het
Naa25	G	A	5: 121,417,961	D271N	probably damaging	Het
Olfr1038-ps	A	T	2: 86,122,408	I162F	possibly damaging	Het
Olfr1117-ps1	A	T	2: 87,309,607	I273F	probably damaging	Het
Otoa	A	G	7: 121,102,605	Q169R	probably damaging	Het
Pde4dip	C	T	3: 97,710,344	D1723N	probably damaging	Het
Ptdss2	T	C	7: 141,152,211	V175A	probably damaging	Het
Rdh8	G	T	9: 20,823,400	R121L	probably damaging	Het
Rpl23	T	C	11: 97,778,285		probably null	Het
Scn5a	T	C	9: 119,534,580	D498G	probably damaging	Het
Slc39a14	G	C	14: 70,306,728	L470V	probably damaging	Het
Smok2a	C	T	17: 13,226,430	A298V	probably damaging	Het
Tesk2	A	C	4: 116,802,849	D388A	probably damaging	Het
Tnik	G	A	3: 28,611,970		probably null	Het
Ube3a	T	A	7: 59,276,183	Y236*	probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Vmn1r74	A	T	7: 11,847,204	I144L	possibly damaging	Het
Vmn2r1	G	A	3: 64,101,345	D482N	probably benign	Het
Vwf	T	C	6: 125,639,400		probably null	Het
Zfp703	C	G	8: 26,979,327	P340A	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
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	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
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

Predicted Primers

PCR Primer
(F):5'- CAAATTGTGCCCATCAGTCTGG -3'
(R):5'- CTACTCTTGAGATTTACCCTCAGG -3'

Sequencing Primer
(F):5'- CATCAGTCTGGGCCTTGCTG -3'
(R):5'- ATCTCATAGATGGTTGTGAGCCACC -3'

Posted On

2018-05-21