Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Zfc3h1'

302400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

115384959-115432772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115411954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1021 (T1021A)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036044
AA Change: T1021A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: T1021A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	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
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
passerine	UTSW	10	115414011	missense	possibly damaging	0.56
R0178_Zfc3h1_655	UTSW	10	115406725	splice site	probably benign
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
PIT4354001:Zfc3h1	UTSW	10	115427039	nonsense	probably null
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
R8746:Zfc3h1	UTSW	10	115407980	missense	probably damaging	1.00
R8803:Zfc3h1	UTSW	10	115411895	missense	probably benign
R8905:Zfc3h1	UTSW	10	115423478	missense	probably benign	0.05
R9045:Zfc3h1	UTSW	10	115427414	missense	possibly damaging	0.49
R9164:Zfc3h1	UTSW	10	115423469	missense	probably benign	0.17
R9211:Zfc3h1	UTSW	10	115412423	missense	possibly damaging	0.83
R9216:Zfc3h1	UTSW	10	115385623	missense	unknown
R9305:Zfc3h1	UTSW	10	115419866	missense	probably benign	0.19
R9372:Zfc3h1	UTSW	10	115385318	missense	unknown
R9394:Zfc3h1	UTSW	10	115418695	missense	probably damaging	1.00
R9414:Zfc3h1	UTSW	10	115414011	missense	possibly damaging	0.56
R9538:Zfc3h1	UTSW	10	115385292	missense	unknown
R9623:Zfc3h1	UTSW	10	115423457	missense	possibly damaging	0.94
R9633:Zfc3h1	UTSW	10	115411947	missense	probably damaging	1.00
R9747:Zfc3h1	UTSW	10	115408916	missense	possibly damaging	0.58
Z1176:Zfc3h1	UTSW	10	115408002	missense	probably damaging	1.00

Posted On

2015-04-16