Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:Znfx1'

62188

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167035793-167063015 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 167047654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 723 (Q723*)

Ref Sequence

ENSEMBL: ENSMUSP00000121750 (fasta)

Gene Model

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

AlphaFold

Q8R151

Predicted Effect

probably null
Transcript: ENSMUST00000048988
AA Change: Q723*

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Q723*

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 null
Transcript: ENSMUST00000128676
AA Change: Q723*

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: Q723*

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 null
Transcript: ENSMUST00000155281
AA Change: Q723*

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: Q723*

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

0.9755

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	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
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
X0064:Znfx1	UTSW	2	167055256	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCAAACCTAGCAGGTGGAACTG -3'
(R):5'- CCATTGAACGTGAGTCCTTGGGTC -3'

Sequencing Primer
(F):5'- CTGGACTACAACAGCGTCAGG -3'
(R):5'- GGGACCACGGTGTTCTTG -3'

Posted On

2013-07-30