Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4354001:Zfc3h1'

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554825

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.941) question?

Stock #

PIT4354001 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

115384959-115432772 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 115427039 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1719 (Y1719*)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036044]

Predicted Effect

probably null
Transcript: ENSMUST00000036044
AA Change: Y1719*

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: Y1719*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	29	90	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
low complexity region	143	214	N/A	INTRINSIC
coiled coil region	361	393	N/A	INTRINSIC
low complexity region	399	432	N/A	INTRINSIC
coiled coil region	436	491	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	564	583	N/A	INTRINSIC
low complexity region	595	619	N/A	INTRINSIC
low complexity region	623	636	N/A	INTRINSIC
low complexity region	716	729	N/A	INTRINSIC
low complexity region	752	763	N/A	INTRINSIC
coiled coil region	826	889	N/A	INTRINSIC
coiled coil region	968	1000	N/A	INTRINSIC
low complexity region	1001	1015	N/A	INTRINSIC
Pfam:zf-C3H1	1187	1208	1.3e-11	PFAM
HAT	1384	1416	1.11e0	SMART
HAT	1418	1449	4.35e2	SMART
Blast:HAT	1495	1538	2e-9	BLAST
HAT	1653	1685	3.31e1	SMART
HAT	1762	1797	7.03e1	SMART
HAT	1922	1954	1.29e-1	SMART
low complexity region	1975	1992	N/A	INTRINSIC

Coding Region Coverage

1x: 92.5%
3x: 90.1%
10x: 83.2%
20x: 69.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	T	5: 62,654,049	Y1140N	probably damaging	Het
Ccdc83	A	T	7: 90,223,974	M391K	probably benign	Het
Cntnap1	A	T	11: 101,181,297	I459F	probably damaging	Het
Cr2	T	A	1: 195,166,309	Y302F	probably damaging	Het
Ctu2	A	T	8: 122,478,975	D179V	probably damaging	Het
Cubn	G	A	2: 13,468,852	Q427*	probably null	Het
Depdc7	A	G	2: 104,728,188	S163P	probably benign	Het
Eif2s3y	C	T	Y: 1,020,126	R385C	probably benign	Het
Gigyf1	A	G	5: 137,524,104	K728R	unknown	Het
Gm1587	G	A	14: 77,797,033	R32*	probably null	Het
Gm17689	T	A	9: 36,581,301	S103C	possibly damaging	Het
Hfe2	T	C	3: 96,528,445	C340R	probably damaging	Het
Isy1	A	G	6: 87,833,671	I53T	possibly damaging	Het
Myh8	A	T	11: 67,289,630	N564I	probably benign	Het
Neb	A	T	2: 52,245,318	I3260N	probably damaging	Het
Npc1	C	T	18: 12,211,535	G426E	probably benign	Het
Nrd1	G	A	4: 109,054,025		probably null	Het
Olfr1221	C	A	2: 89,112,486	E9*	probably null	Het
Olfr1257	T	A	2: 89,881,508	S227R	probably benign	Het
Olfr56	G	A	11: 49,134,305	V38M	probably damaging	Het
Prss51	T	A	14: 64,097,097	V91D	probably damaging	Het
Qpct	A	C	17: 79,081,759	Y280S	probably benign	Het
Rbpms	A	G	8: 33,806,838	V137A	possibly damaging	Het
Rgl2	T	A	17: 33,933,940	M441K	possibly damaging	Het
Sdhaf3	A	T	6: 6,956,072	I16F	possibly damaging	Het
Slc38a3	T	G	9: 107,657,649	N176H	probably benign	Het
Sos1	T	C	17: 80,449,356	S256G	possibly damaging	Het
Spg11	A	T	2: 122,088,185	C988S	probably damaging	Het
Sync	A	T	4: 129,306,654	Q451L	possibly damaging	Het
Tbc1d31	A	G	15: 57,967,933	Y929C	probably benign	Het
Thbs2	G	A	17: 14,689,968	T123I	probably damaging	Het
Thsd7a	A	C	6: 12,331,927		probably null	Het
Tnfrsf11a	T	C	1: 105,821,517	L220P	probably damaging	Het
Trbv13-2	G	A	6: 41,121,818	C109Y	probably damaging	Het
Ugt3a1	G	A	15: 9,306,360	W198*	probably null	Het
Usp14	G	A	18: 9,996,189	R464W	probably damaging	Het
Vmn1r2	C	T	4: 3,172,162	S27L	probably benign	Het
Vmn1r68	T	A	7: 10,528,031	N47Y	probably benign	Het

Other mutations in Zfc3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:Zfc3h1	APN	10	115419832	missense	possibly damaging	0.92
IGL00793:Zfc3h1	APN	10	115416874	missense	probably benign	0.00
IGL01349:Zfc3h1	APN	10	115423448	missense	probably damaging	1.00
IGL01431:Zfc3h1	APN	10	115423223	missense	possibly damaging	0.49
IGL02273:Zfc3h1	APN	10	115427099	missense	probably benign
IGL02382:Zfc3h1	APN	10	115416876	nonsense	probably null
IGL02397:Zfc3h1	APN	10	115407985	missense	probably damaging	1.00
IGL02657:Zfc3h1	APN	10	115411954	missense	possibly damaging	0.48
IGL02826:Zfc3h1	APN	10	115400904	missense	probably benign	0.42
Gnatcatcher	UTSW	10	115400742	missense	probably benign	0.39
hutton	UTSW	10	115415248	missense	probably damaging	0.96
vireo	UTSW	10	115419901	missense	probably benign	0.01
warbler	UTSW	10	115406483	missense	probably damaging	1.00
PIT4260001:Zfc3h1	UTSW	10	115390889	missense	probably damaging	0.99
R0062:Zfc3h1	UTSW	10	115416753	missense	probably benign	0.00
R0062:Zfc3h1	UTSW	10	115416753	missense	probably benign	0.00
R0067:Zfc3h1	UTSW	10	115423474	missense	possibly damaging	0.88
R0067:Zfc3h1	UTSW	10	115423474	missense	possibly damaging	0.88
R0104:Zfc3h1	UTSW	10	115415287	missense	possibly damaging	0.66
R0178:Zfc3h1	UTSW	10	115406725	splice site	probably benign
R0355:Zfc3h1	UTSW	10	115409113	missense	possibly damaging	0.80
R0619:Zfc3h1	UTSW	10	115420810	missense	possibly damaging	0.92
R0731:Zfc3h1	UTSW	10	115410632	missense	probably benign	0.00
R0828:Zfc3h1	UTSW	10	115401707	missense	possibly damaging	0.68
R0866:Zfc3h1	UTSW	10	115427716	missense	probably benign	0.00
R1196:Zfc3h1	UTSW	10	115411961	missense	probably damaging	0.99
R1455:Zfc3h1	UTSW	10	115412108	missense	probably benign	0.11
R1515:Zfc3h1	UTSW	10	115416742	missense	probably benign	0.29
R1617:Zfc3h1	UTSW	10	115390922	missense	probably benign	0.01
R1640:Zfc3h1	UTSW	10	115406901	splice site	probably null
R1959:Zfc3h1	UTSW	10	115423253	missense	probably benign	0.34
R2039:Zfc3h1	UTSW	10	115406483	missense	probably damaging	1.00
R3430:Zfc3h1	UTSW	10	115410523	splice site	probably benign
R3691:Zfc3h1	UTSW	10	115420690	missense	probably benign
R3909:Zfc3h1	UTSW	10	115419901	missense	probably benign	0.01
R4235:Zfc3h1	UTSW	10	115418799	missense	probably benign	0.32
R4684:Zfc3h1	UTSW	10	115423385	missense	probably benign	0.03
R4816:Zfc3h1	UTSW	10	115415694	missense	probably benign	0.16
R4881:Zfc3h1	UTSW	10	115400742	missense	probably benign	0.39
R4883:Zfc3h1	UTSW	10	115410642	missense	probably damaging	1.00
R5038:Zfc3h1	UTSW	10	115404211	missense	probably benign	0.16
R5068:Zfc3h1	UTSW	10	115418783	nonsense	probably null
R5069:Zfc3h1	UTSW	10	115418783	nonsense	probably null
R5070:Zfc3h1	UTSW	10	115418783	nonsense	probably null
R5155:Zfc3h1	UTSW	10	115412121	missense	possibly damaging	0.64
R5190:Zfc3h1	UTSW	10	115418692	missense	probably damaging	1.00
R5499:Zfc3h1	UTSW	10	115410693	missense	probably damaging	1.00
R5932:Zfc3h1	UTSW	10	115400910	missense	probably benign	0.44
R5935:Zfc3h1	UTSW	10	115431357	intron	probably benign
R6165:Zfc3h1	UTSW	10	115420669	missense	probably benign	0.30
R6182:Zfc3h1	UTSW	10	115390859	missense	probably benign	0.00
R6262:Zfc3h1	UTSW	10	115413976	missense	probably damaging	1.00
R6382:Zfc3h1	UTSW	10	115407908	missense	probably benign	0.06
R6392:Zfc3h1	UTSW	10	115401748	missense	probably damaging	1.00
R6539:Zfc3h1	UTSW	10	115412002	missense	probably benign	0.26
R6723:Zfc3h1	UTSW	10	115420733	missense	probably benign	0.34
R7339:Zfc3h1	UTSW	10	115403300	missense	probably damaging	1.00
R7381:Zfc3h1	UTSW	10	115424630	missense	probably benign
R7404:Zfc3h1	UTSW	10	115415248	missense	probably damaging	0.96
R7667:Zfc3h1	UTSW	10	115410701	nonsense	probably null
R7748:Zfc3h1	UTSW	10	115400815	missense	probably benign	0.27
R7910:Zfc3h1	UTSW	10	115420683	nonsense	probably null
R7914:Zfc3h1	UTSW	10	115403157	splice site	probably null
R8023:Zfc3h1	UTSW	10	115420648	missense	probably damaging	1.00
R8169:Zfc3h1	UTSW	10	115418711	missense	probably damaging	0.98
R8358:Zfc3h1	UTSW	10	115404293	missense	probably benign	0.13
Z1176:Zfc3h1	UTSW	10	115408002	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGCTTTGTAATCTCATTTGGCC -3'
(R):5'- CAACTCTAAGTGCAAGAGAAGC -3'

Sequencing Primer
(F):5'- TGGGAATTACAAGTTTATTTGGGG -3'
(R):5'- CTCTAAGTGCAAGAGAAGCTGAGC -3'

Posted On

2019-06-07