Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02002:Zzz3'

183114

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 #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152451369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 223 (T223A)

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: T723A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: T723A

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: T724A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: T724A

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: T724A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: T724A

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 damaging
Transcript: ENSMUST00000106103
AA Change: T223A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: T223A

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: ENSMUST00000150802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197987

Predicted Effect

probably benign
Transcript: ENSMUST00000200570
AA Change: T227A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: T227A

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,152,796	Y1248F	probably damaging	Het
Abcg5	G	T	17: 84,682,051	Y76*	probably null	Het
Acadsb	T	A	7: 131,428,529	V135E	probably damaging	Het
Acap1	A	G	11: 69,884,460	Y326H	probably damaging	Het
Actl11	T	A	9: 107,929,330	V284D	probably benign	Het
Adcy10	G	T	1: 165,521,843	D428Y	probably damaging	Het
Akap8	A	G	17: 32,309,496	C481R	probably damaging	Het
Amotl2	G	A	9: 102,725,117	A26T	probably damaging	Het
Apob	T	C	12: 7,994,822	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,406,079	T124M	probably damaging	Het
Cd320	A	G	17: 33,843,240		probably benign	Het
Clca4b	T	C	3: 144,932,433	T23A	probably benign	Het
Col22a1	A	G	15: 71,811,097		probably benign	Het
Col24a1	T	A	3: 145,356,944	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,782,136		probably benign	Het
Dap3	A	T	3: 88,936,228	M19K	probably benign	Het
Dsg2	A	G	18: 20,579,176	D123G	probably damaging	Het
Dysf	T	A	6: 84,210,787		probably benign	Het
Erbb4	A	G	1: 68,080,726	S853P	probably damaging	Het
Fbn2	A	G	18: 58,114,553	M423T	probably benign	Het
Fgfr1	T	C	8: 25,555,711	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,538,900	A203T	probably damaging	Het
Gon4l	C	T	3: 88,895,336	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,650,974	F176L	probably damaging	Het
Haghl	A	G	17: 25,784,265	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,615,298	P4167S	probably damaging	Het
Hscb	T	C	5: 110,830,954	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,904,785	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,407,434	M263L	probably benign	Het
Metap1	T	A	3: 138,462,389	T325S	probably damaging	Het
Mff	A	G	1: 82,741,975	R225G	probably damaging	Het
Naprt	A	T	15: 75,891,372	L474Q	probably damaging	Het
Nin	A	T	12: 70,062,699	Y155*	probably null	Het
Nrg3	A	T	14: 38,370,767	C612*	probably null	Het
Olfr170	T	C	16: 19,606,550	I39M	possibly damaging	Het
Olfr472	A	T	7: 107,903,290	D191V	possibly damaging	Het
Olfr781	T	A	10: 129,333,127	I82K	probably damaging	Het
Pdilt	A	T	7: 119,500,444	F200L	probably damaging	Het
Ppard	T	G	17: 28,298,903	F315C	probably damaging	Het
Ror1	T	A	4: 100,441,184	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,225,705	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,207,095	K442R	probably benign	Het
Tln2	A	G	9: 67,356,698	I553T	probably damaging	Het
Tmem269	T	A	4: 119,214,141	I26F	probably benign	Het
Tsen2	T	C	6: 115,559,607	V108A	probably benign	Het
Ttyh3	A	T	5: 140,629,483	D383E	probably damaging	Het
Usp13	T	C	3: 32,847,825	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,592,619	S762R	probably damaging	Het
Washc4	A	G	10: 83,579,543	N799S	possibly damaging	Het
Zcchc6	A	G	13: 59,782,096	S1042P	possibly damaging	Het
Zdhhc17	C	T	10: 110,967,689	V256I	probably benign	Het
Zfp51	T	A	17: 21,463,959	F279I	probably 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
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

2014-05-07