Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02336:Zzz3'

288848

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 #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 152428059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 251 (D251E)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089982
AA Change: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D251E

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: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D251E

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: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D251E

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,289,032	V2127A	probably damaging	Het
Accsl	A	G	2: 93,865,908	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,245	M1196K	probably benign	Het
Adgre1	T	A	17: 57,411,024	C345*	probably null	Het
Adrb2	T	C	18: 62,179,007	E249G	probably benign	Het
Amdhd1	T	A	10: 93,524,429	I423F	probably benign	Het
Ankhd1	A	G	18: 36,594,814	N501S	probably damaging	Het
Cd180	T	A	13: 102,705,313	I289N	probably damaging	Het
Chst5	T	A	8: 111,890,317	I224F	probably damaging	Het
Cox6a2	A	G	7: 128,205,931	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,614,286		probably null	Het
Dpp6	G	A	5: 27,469,411	E179K	probably benign	Het
Fasn	G	A	11: 120,813,736	T1341I	possibly damaging	Het
Fat1	C	T	8: 44,951,583	T457I	probably benign	Het
Filip1l	A	T	16: 57,571,733		probably null	Het
Gje1	A	T	10: 14,716,669	I123N	probably damaging	Het
Gli3	A	G	13: 15,720,289	T683A	probably damaging	Het
Gm29326	C	A	7: 29,561,408		noncoding transcript	Het
Gm5460	A	G	14: 34,043,952		probably benign	Het
Hspa4	C	T	11: 53,262,373	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,937,265	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,752,293	V408A	probably benign	Het
Kdm7a	A	T	6: 39,170,264	W250R	probably damaging	Het
Kif5a	A	G	10: 127,242,696	I360T	possibly damaging	Het
Maml1	T	C	11: 50,258,165	N916S	probably benign	Het
Mier2	A	T	10: 79,548,350		probably benign	Het
Mpst	A	T	15: 78,410,274	T69S	probably benign	Het
Nlk	C	A	11: 78,586,937	V327F	probably damaging	Het
Nme5	A	T	18: 34,578,677	S4T	probably benign	Het
Notch2	A	G	3: 98,138,395	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,181,552		probably null	Het
Oas1d	A	G	5: 120,919,048	E239G	probably damaging	Het
Olfm4	T	C	14: 80,006,321	S110P	probably damaging	Het
Olfr589	T	C	7: 103,155,565	M61V	probably benign	Het
Parn	T	A	16: 13,566,703	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,495,726	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,886,506	E353V	probably damaging	Het
Prkdc	A	G	16: 15,785,978	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,785,979	Q2952H	probably benign	Het
Qars	G	T	9: 108,514,986	E143*	probably null	Het
Reln	A	G	5: 21,929,134	Y2599H	probably damaging	Het
Rnf123	T	C	9: 108,061,842	E803G	probably damaging	Het
Rnf141	G	A	7: 110,837,198	Q8*	probably null	Het
Rnf167	A	G	11: 70,650,126	I193V	probably benign	Het
Rprd2	A	T	3: 95,787,310	M137K	probably benign	Het
Rtf1	T	G	2: 119,728,745		probably benign	Het
Serpina1d	T	A	12: 103,764,796	R308*	probably null	Het
Smg7	T	C	1: 152,843,279	Y899C	probably benign	Het
Tbr1	C	A	2: 61,804,992	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,514,483		probably null	Het
Timm44	T	A	8: 4,267,692	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,314,020	E194*	probably null	Het
Trp63	G	A	16: 25,820,442	G127S	probably damaging	Het
Trrap	C	T	5: 144,798,390	A989V	probably benign	Het
Ttn	T	C	2: 76,769,982	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,179,952		probably benign	Het
Vmn1r77	G	A	7: 12,041,296		probably null	Het
Vmn1r80	A	G	7: 12,193,254	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,802,016	C370Y	probably damaging	Het
Xntrpc	C	A	7: 102,084,285	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,425,777	S424F	unknown	Het
Zcwpw1	T	A	5: 137,810,114	S275T	probably damaging	Het
Zfp979	C	T	4: 147,615,351	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,585,794	H968R	probably damaging	Het
Zswim3	T	C	2: 164,820,377	V259A	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
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
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