Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Zzz3'

190057

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

039739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152449098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 633 (D633E)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: D632E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D632E

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 damaging
Transcript: ENSMUST00000106100
AA Change: D633E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D633E

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: ENSMUST00000106101
AA Change: D633E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D633E

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: D132E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: D132E

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

possibly damaging
Transcript: ENSMUST00000200570
AA Change: D136E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: D136E

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

0.0844

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059		probably benign	Het
4931406C07Rik	G	A	9: 15,297,857	T47I	probably damaging	Het
Adcy2	T	A	13: 68,720,746	N558I	probably damaging	Het
Ago3	G	A	4: 126,370,292	P374S	probably damaging	Het
Ak8	T	C	2: 28,759,995	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
BC005624	T	C	2: 30,978,910	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,182	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875	P593L	probably damaging	Het
Clcn6	G	A	4: 148,017,568	T353I	probably benign	Het
Cstl1	G	A	2: 148,751,159		probably null	Het
Cyp2d10	A	C	15: 82,405,582	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,616,230	R18H	unknown	Het
Ddi2	A	G	4: 141,683,997	F535L	probably benign	Het
Dopey1	C	T	9: 86,554,080	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,319,472	T115A	probably benign	Het
Ercc6l2	T	A	13: 63,872,458		probably benign	Het
Gm7052	A	G	17: 22,039,842		probably benign	Het
Gm9925	G	A	18: 74,065,502		probably benign	Het
Gnas	T	A	2: 174,299,975	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,575,173	C138*	probably null	Het
Igsf8	C	T	1: 172,317,405	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,238,078	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,374,742	V77E	probably damaging	Het
Kif13b	T	A	14: 64,760,666		probably benign	Het
Lca5l	T	C	16: 96,175,964	N214S	probably benign	Het
Luc7l3	T	C	11: 94,297,756		probably benign	Het
Lypd3	T	C	7: 24,640,330	I274T	probably benign	Het
Macf1	A	G	4: 123,370,584		probably null	Het
Mchr1	A	G	15: 81,237,163	Y38C	probably damaging	Het
Mia2	T	A	12: 59,144,766	L716*	probably null	Het
Mki67	A	G	7: 135,700,566	L913P	probably benign	Het
Mug2	T	A	6: 122,036,232		probably benign	Het
Neu3	A	G	7: 99,823,356	L58P	probably damaging	Het
Olfr1099	A	T	2: 86,959,080	I126N	probably damaging	Het
Olfr1198	G	A	2: 88,746,138	P250L	probably damaging	Het
Pak1ip1	T	C	13: 41,012,688	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,479,652	D555G	probably benign	Het
Pygb	G	A	2: 150,827,147	G671D	probably damaging	Het
Rab30	A	T	7: 92,829,667	I79L	possibly damaging	Het
Rab44	C	A	17: 29,138,106	T70K	probably damaging	Het
Rccd1	C	G	7: 80,320,663	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,649,755	V329A	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Slc22a14	T	C	9: 119,180,984	N15S	probably benign	Het
Smurf2	G	A	11: 106,824,747	H632Y	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tgm6	T	C	2: 130,145,159	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,898,187		probably benign	Het
Trim67	A	G	8: 124,794,421	N174S	probably damaging	Het
Ttc8	C	A	12: 98,943,883	T123K	probably benign	Het
Ugt1a7c	T	A	1: 88,095,725	M202K	probably damaging	Het
Vmn2r7	T	A	3: 64,691,459	H559L	possibly damaging	Het
Zfp511	A	G	7: 140,037,279	D96G	probably benign	Het
Zfp868	A	G	8: 69,612,409	Y92H	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
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
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
R9494:Zzz3	UTSW	3	152427831	missense	possibly damaging	0.88
R9540:Zzz3	UTSW	3	152450669	nonsense	probably null
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'- CCAGTACACCAATAGCCTTGGGAAC -3'
(R):5'- GGCCACATCTGAAATCCTGGTCAC -3'

Sequencing Primer
(F):5'- TTTGATAAAGGTAAGAACCCACACG -3'
(R):5'- GAAATCCTGGTCACACTTTATAGTGC -3'

Posted On

2014-05-14