Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01586:Zzz3'

91810

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 #

IGL01586

Quality Score

Status

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152455839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 290 (I290N)

Ref Sequence

ENSEMBL: ENSMUSP00000101709 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089982
AA Change: I790N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: I790N

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

possibly damaging
Transcript: ENSMUST00000106100
AA Change: I791N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: I791N

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

possibly damaging
Transcript: ENSMUST00000106101
AA Change: I791N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: I791N

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

possibly damaging
Transcript: ENSMUST00000106103
AA Change: I290N

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: I290N

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: ENSMUST00000135044

Predicted Effect

probably benign
Transcript: ENSMUST00000200570
AA Change: I294N

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: I294N

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
9830107B12Rik	A	T	17: 48,128,515	Y144N	unknown	Het
Abca9	A	C	11: 110,154,417	C363W	probably damaging	Het
Acmsd	G	A	1: 127,759,710	R243H	probably damaging	Het
Adam33	T	C	2: 131,054,050	T490A	probably damaging	Het
Ank1	A	G	8: 23,120,912	D1411G	probably benign	Het
Arhgap39	T	C	15: 76,730,438	E842G	probably benign	Het
Asgr2	T	C	11: 70,105,367		probably benign	Het
Bbs9	T	C	9: 22,645,997	V14A	possibly damaging	Het
Cer1	A	G	4: 82,884,843	S81P	probably damaging	Het
Cln6	T	A	9: 62,844,618	H41Q	probably damaging	Het
Dock1	A	G	7: 134,753,377	D334G	probably damaging	Het
Dpy19l2	A	G	9: 24,666,975	I261T	probably benign	Het
Fhod3	T	G	18: 25,090,747	I1050S	probably damaging	Het
Gbgt1	T	C	2: 28,497,830	V22A	probably benign	Het
Izumo3	A	G	4: 92,146,295		probably null	Het
Kif11	T	C	19: 37,384,233		probably benign	Het
Krt2	C	A	15: 101,811,390	G615V	unknown	Het
Midn	A	G	10: 80,156,643		probably benign	Het
Mier1	C	T	4: 103,155,572	T342I	probably damaging	Het
Mycbp2	A	T	14: 103,140,869		probably null	Het
Nrp1	A	T	8: 128,432,032	S267C	possibly damaging	Het
Olfr145	A	G	9: 37,897,976	T191A	possibly damaging	Het
Pcdh20	A	T	14: 88,470,908	M28K	probably benign	Het
Prmt5	G	A	14: 54,509,951		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rps6ka5	T	C	12: 100,570,914	E519G	probably damaging	Het
Samm50	T	A	15: 84,195,838	I39N	probably benign	Het
Shc2	A	T	10: 79,622,304	M515K	probably damaging	Het
Sorbs2	T	A	8: 45,795,594	F608L	probably damaging	Het
Sos2	T	C	12: 69,607,398	K727E	probably damaging	Het
Sox13	A	T	1: 133,389,444	H150Q	possibly damaging	Het
Tmem132e	T	C	11: 82,434,669	V165A	probably damaging	Het
Trmt11	T	C	10: 30,597,751	T43A	probably benign	Het
Tyrp1	G	T	4: 80,844,898	V341L	probably benign	Het
Ugt2b35	C	A	5: 87,011,391	H481Q	probably benign	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
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
IGL02454:Zzz3	APN	3	152428574	missense	probably benign	0.03
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
R8157:Zzz3	UTSW	3	152449648	missense	probably null	0.71
R8490:Zzz3	UTSW	3	152428653	nonsense	probably null
R8926:Zzz3	UTSW	3	152427892	missense	possibly damaging	0.76
R9143:Zzz3	UTSW	3	152458271	missense	probably benign	0.04
R9243:Zzz3	UTSW	3	152428283	missense	probably damaging	1.00
X0018:Zzz3	UTSW	3	152428733	missense	possibly damaging	0.88
Z1176:Zzz3	UTSW	3	152449097	missense	possibly damaging	0.94

Posted On

2013-12-09