Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02260:Zzz3'

286695

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 #

IGL02260

Quality Score

Status

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152452083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 263 (D263E)

Ref Sequence

ENSEMBL: ENSMUSP00000101709 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: D763E

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

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D763E

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: D764E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D764E

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: D764E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D764E

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
AA Change: D263E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: D263E

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: D267E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: D267E

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,447,891	A663V	probably benign	Het
Atg2b	A	T	12: 105,636,440		probably benign	Het
B4galt6	T	C	18: 20,700,747	I194V	probably benign	Het
Caprin1	T	C	2: 103,779,369	Y188C	probably damaging	Het
Ccdc85a	A	G	11: 28,576,672	F284S	possibly damaging	Het
Ccdc88b	A	T	19: 6,855,349		probably benign	Het
Cox18	C	T	5: 90,217,525	V272I	possibly damaging	Het
Dars	A	T	1: 128,372,161	M362K	probably benign	Het
Ddi1	A	T	9: 6,265,760	M203K	probably benign	Het
Dlg4	G	A	11: 70,042,267	G500R	probably damaging	Het
Ebf3	G	A	7: 137,206,190	P375S	probably damaging	Het
Eif5b	T	A	1: 38,045,456	L842M	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm5581	T	C	6: 131,167,946		noncoding transcript	Het
Mapk10	A	T	5: 103,038,668	D29E	probably benign	Het
Mib2	C	T	4: 155,661,171	R61H	probably damaging	Het
Mki67	A	G	7: 135,701,968	S724P	probably benign	Het
Mtor	T	C	4: 148,538,301	I1946T	probably damaging	Het
Myh14	A	G	7: 44,611,571	L1873P	probably damaging	Het
Myom1	C	T	17: 71,108,315	Q1226*	probably null	Het
Neb	A	G	2: 52,205,656	L4858P	probably damaging	Het
Olfr1036	C	A	2: 86,075,472	T244K	possibly damaging	Het
Olfr502	T	C	7: 108,523,285	I222V	probably benign	Het
Olfr561	A	T	7: 102,774,907	I128F	probably damaging	Het
Pcdhb14	C	T	18: 37,450,033	H731Y	probably benign	Het
Prdm16	T	C	4: 154,328,287	N1087S	probably benign	Het
Prdm2	C	T	4: 143,134,587	G711D	probably damaging	Het
Proser1	G	A	3: 53,478,944	G749D	probably damaging	Het
Ptch1	A	T	13: 63,565,352		probably benign	Het
Pus10	A	T	11: 23,707,548	K233*	probably null	Het
Rasa2	A	G	9: 96,544,319	Y825H	probably benign	Het
Tbcd	T	C	11: 121,603,278	F969S	probably damaging	Het
Tbp	T	A	17: 15,504,616	S133T	probably damaging	Het
Tnks	C	T	8: 34,842,983	G1062D	probably damaging	Het
Tnrc6b	T	A	15: 80,880,171	S625T	probably damaging	Het
Triobp	T	C	15: 78,966,362	S239P	probably benign	Het
Ubiad1	T	C	4: 148,444,107	D115G	probably benign	Het
Uckl1	A	G	2: 181,569,588	S483P	probably damaging	Het
Vill	A	G	9: 119,058,441	D91G	probably benign	Het
Wdr62	C	A	7: 30,270,782	C200F	probably damaging	Het
Zfp341	G	A	2: 154,642,049	C586Y	possibly damaging	Het
Zfp687	G	A	3: 95,011,264	T399I	possibly damaging	Het
Zp1	G	T	19: 10,916,714		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
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
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

2015-04-16