Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02454:Zzz3'

293761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152428574 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 423 (N423S)

Ref Sequence

ENSEMBL: ENSMUSP00000087428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: N423S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: N423S

Domain	Start	End	E-Value	Type
SANT	657	711	1.42e-9	SMART
low complexity region	776	787	N/A	INTRINSIC
low complexity region	799	814	N/A	INTRINSIC
ZnF_ZZ	823	871	6.46e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106100
AA Change: N423S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: N423S

Domain	Start	End	E-Value	Type
SANT	658	712	1.42e-9	SMART
low complexity region	777	788	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
ZnF_ZZ	824	872	6.46e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106101
AA Change: N423S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: N423S

Domain	Start	End	E-Value	Type
SANT	658	712	1.42e-9	SMART
low complexity region	777	788	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
ZnF_ZZ	824	872	6.46e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106103

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068

Domain	Start	End	E-Value	Type
SANT	157	211	1.42e-9	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
ZnF_ZZ	323	371	6.46e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197987

Predicted Effect

probably benign
Transcript: ENSMUST00000200570

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068

Domain	Start	End	E-Value	Type
SANT	161	215	1.42e-9	SMART
low complexity region	280	291	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
ZnF_ZZ	327	375	6.46e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	A	16: 38,827,947	T267S	probably benign	Het
Amz2	T	G	11: 109,434,061		probably benign	Het
Atp13a5	A	G	16: 29,232,808	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,602,180	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,956,897	D122E	probably damaging	Het
Crtc2	G	A	3: 90,259,167	G65S	probably benign	Het
Dnah17	T	C	11: 118,080,767	T2160A	probably damaging	Het
Fads3	T	G	19: 10,055,119	L278R	probably damaging	Het
Foxp4	A	T	17: 47,875,582	L424*	probably null	Het
Gm10392	A	T	11: 77,518,390	E310V	probably damaging	Het
Gm11554	T	A	11: 99,803,989	S133C	unknown	Het
Hacd2	T	A	16: 35,106,391	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674		probably null	Het
Mtfr1l	A	T	4: 134,530,385	L111H	probably damaging	Het
Mysm1	A	G	4: 94,970,504		probably benign	Het
Olfr418	C	A	1: 173,270,940	S255Y	probably damaging	Het
Olfr646	T	C	7: 104,106,612	V111A	probably damaging	Het
Plec	A	T	15: 76,191,031	F357I	probably damaging	Het
Polr3a	C	A	14: 24,475,823	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,364,673	K764R	probably benign	Het
Pxn	C	T	5: 115,552,266	P256S	probably damaging	Het
Rbm25	T	A	12: 83,660,322	F247L	probably benign	Het
Rfx4	C	T	10: 84,840,106	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,927,264		noncoding transcript	Het
Scn11a	A	G	9: 119,758,544	I1378T	probably benign	Het
Siglecg	T	C	7: 43,408,895	S69P	probably benign	Het
Stox1	T	C	10: 62,667,826	Y61C	probably damaging	Het
Tnks	C	T	8: 34,831,728		probably benign	Het
Tpr	A	G	1: 150,431,192	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,043,647	*97Q	probably null	Het
Usf3	T	C	16: 44,217,182	V675A	probably damaging	Het
Wdr7	C	T	18: 63,796,228	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,624,516	C618S	probably benign	Het
Zfp398	T	C	6: 47,840,367	V47A	possibly damaging	Het

Other mutations in Zzz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Zzz3	APN	3	152428514	missense	probably benign	0.16
IGL00707:Zzz3	APN	3	152449043	nonsense	probably null
IGL00983:Zzz3	APN	3	152455810	splice site	probably benign
IGL01586:Zzz3	APN	3	152455839	missense	possibly damaging	0.80
IGL01973:Zzz3	APN	3	152428370	missense	probably benign	0.00
IGL02002:Zzz3	APN	3	152451369	missense	probably damaging	0.98
IGL02009:Zzz3	APN	3	152428115	missense	possibly damaging	0.80
IGL02260:Zzz3	APN	3	152452083	missense	probably benign	0.04
IGL02336:Zzz3	APN	3	152428059	missense	possibly damaging	0.74
IGL02519:Zzz3	APN	3	152427390	missense	probably damaging	1.00
R0067:Zzz3	UTSW	3	152428403	missense	possibly damaging	0.88
R0067:Zzz3	UTSW	3	152428403	missense	possibly damaging	0.88
R0314:Zzz3	UTSW	3	152427448	missense	probably benign	0.00
R0536:Zzz3	UTSW	3	152448828	missense	probably damaging	1.00
R1706:Zzz3	UTSW	3	152449098	missense	probably damaging	1.00
R2869:Zzz3	UTSW	3	152446844	synonymous	silent
R2870:Zzz3	UTSW	3	152446844	synonymous	silent
R2871:Zzz3	UTSW	3	152446844	synonymous	silent
R2872:Zzz3	UTSW	3	152446844	synonymous	silent
R3927:Zzz3	UTSW	3	152455862	missense	probably damaging	1.00
R4195:Zzz3	UTSW	3	152428465	missense	probably benign	0.02
R4768:Zzz3	UTSW	3	152448783	missense	probably damaging	1.00
R5248:Zzz3	UTSW	3	152427545	missense	probably damaging	0.99
R5566:Zzz3	UTSW	3	152455824	missense	probably damaging	1.00
R5752:Zzz3	UTSW	3	152452122	missense	possibly damaging	0.48
R5782:Zzz3	UTSW	3	152428100	missense	possibly damaging	0.69
R5884:Zzz3	UTSW	3	152450658	missense	probably damaging	1.00
R6008:Zzz3	UTSW	3	152428151	missense	probably benign	0.01
R6155:Zzz3	UTSW	3	152427682	missense	possibly damaging	0.57
R6557:Zzz3	UTSW	3	152428460	missense	probably damaging	1.00
R6865:Zzz3	UTSW	3	152428053	missense	probably benign	0.01
R7344:Zzz3	UTSW	3	152452099	missense	probably damaging	0.98
R7588:Zzz3	UTSW	3	152422768	missense	possibly damaging	0.85
R7636:Zzz3	UTSW	3	152427652	missense	probably benign
R7732:Zzz3	UTSW	3	152448842	missense	probably damaging	1.00
X0018:Zzz3	UTSW	3	152428733	missense	possibly damaging	0.88

Posted On

2015-04-16