Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Zfc3h1'

84109

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

Is this an essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

115384959-115432772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115423223 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1591 (T1591K)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036044
AA Change: T1591K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: T1591K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127283

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly 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
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
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
Z1176:Zfc3h1	UTSW	10	115408002	missense	probably damaging	1.00

Posted On

2013-11-11