Mutagenetix > Incidental Mutations

Incidental Mutation 'R0067:Zzz3'

59632

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

038358-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152428403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 366 (D366G)

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: D366G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D366G

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: D366G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D366G

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: D366G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D366G

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

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,911,570	V248M	possibly damaging	Het
Adamts9	T	A	6: 92,890,167	K79N	probably damaging	Het
AW209491	A	T	13: 14,637,743	I394F	probably benign	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1d	A	T	14: 30,075,010		probably benign	Het
Cacna1i	A	T	15: 80,381,172	I1542F	probably damaging	Het
Cep97	A	T	16: 55,915,561	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,860,141		probably benign	Het
Coq8b	T	C	7: 27,233,481	L5P	possibly damaging	Het
Dennd1c	T	C	17: 57,075,465	Q67R	probably damaging	Het
Dysf	T	C	6: 84,063,331	V119A	possibly damaging	Het
Eml1	A	G	12: 108,463,527	D23G	possibly damaging	Het
Eva1c	A	T	16: 90,866,417	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,473,996	K95R	probably benign	Het
Glo1	A	T	17: 30,594,271		probably null	Het
Gm11360	T	A	13: 27,956,231	M26K	probably benign	Het
Gps2	C	T	11: 69,914,781	Q42*	probably null	Het
Gypa	A	G	8: 80,503,081	H102R	possibly damaging	Het
Hdac4	G	A	1: 92,029,984	H103Y	probably damaging	Het
Hivep1	T	A	13: 42,158,656	D1457E	probably benign	Het
Hunk	A	G	16: 90,447,312	D110G	probably damaging	Het
L3mbtl1	A	G	2: 162,948,828	K225E	probably damaging	Het
Limch1	A	G	5: 66,974,622	S143G	probably damaging	Het
Macf1	T	C	4: 123,475,248	K342E	possibly damaging	Het
Mc5r	T	A	18: 68,339,566	M332K	probably damaging	Het
Memo1	A	G	17: 74,225,458	V185A	probably damaging	Het
Myf6	A	T	10: 107,493,479		probably null	Het
Myh14	G	A	7: 44,623,127	T1418I	probably benign	Het
Pbk	G	A	14: 65,815,226	V173I	possibly damaging	Het
Plekha5	C	T	6: 140,524,903	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,720,641	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,294,820	R246S	probably damaging	Het
Rflnb	A	T	11: 76,022,161	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,867,498		probably null	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rtn2	T	A	7: 19,294,471		probably benign	Het
Satb1	T	C	17: 51,804,336	T165A	probably damaging	Het
Scamp1	T	C	13: 94,204,150	Y237C	probably damaging	Het
Skint10	A	T	4: 112,711,556	F321L	probably benign	Het
Skiv2l2	C	T	13: 112,886,862	V727I	probably benign	Het
Slc36a2	A	G	11: 55,162,640		probably benign	Het
Slc8a1	A	G	17: 81,437,759	V672A	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spats2	C	A	15: 99,212,287	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,949,340	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,234,243	T241A	probably damaging	Het
Ticrr	A	T	7: 79,677,410	D622V	probably damaging	Het
Tie1	A	G	4: 118,476,280		probably benign	Het
Trak1	G	C	9: 121,472,907	V910L	probably damaging	Het
Trmt1l	T	C	1: 151,448,380	V326A	probably benign	Het
Tshr	A	G	12: 91,505,283	T136A	probably damaging	Het
Ube3c	A	G	5: 29,598,938	T180A	possibly damaging	Het
Unc13a	A	C	8: 71,634,658	F1482V	probably damaging	Het
Unc79	A	G	12: 103,059,518	E388G	probably damaging	Het
Ush2a	A	T	1: 188,964,846	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdfy4	G	A	14: 33,162,751	R65C	probably null	Het
Zcchc9	T	C	13: 91,797,249	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,423,474	L1650F	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGTGGAACGACGAAATCAGC -3'
(R):5'- ACTGGCACTCTCTTTGGCAGATG -3'

Sequencing Primer
(F):5'- TGACTGCCGAGTCAGCTTC -3'
(R):5'- CATCTTGAGGAACTTCGGCAG -3'

Posted On

2013-07-11