Mutagenetix > Incidental Mutations

Incidental Mutation 'R6008:Zzz3'

479583

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

044185-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152428151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 282 (V282A)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: V282A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: V282A

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: V282A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: V282A

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: V282A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: V282A

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

0.0699

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	G	A	9: 22,424,126	W13*	probably null	Het
Abcc4	A	G	14: 118,490,566	L1268P	possibly damaging	Het
Acot3	T	A	12: 84,057,086	V223E	probably damaging	Het
Afap1	T	G	5: 35,997,551	S680A	probably damaging	Het
Aox1	C	T	1: 58,077,513	A801V	probably damaging	Het
Atp8b1	G	T	18: 64,577,616	T155K	probably damaging	Het
B230118H07Rik	A	T	2: 101,583,553	M133K	possibly damaging	Het
Bard1	C	A	1: 71,030,750	V690F	possibly damaging	Het
Btnl9	C	A	11: 49,182,965		probably null	Het
C1rl	A	G	6: 124,493,188	N13S	probably benign	Het
Cad	C	A	5: 31,069,112	T1166K	probably damaging	Het
Ckap5	T	A	2: 91,562,989	M405K	probably damaging	Het
Csn1s1	T	C	5: 87,678,085		probably null	Het
Ctnna2	A	G	6: 76,915,828	L792P	probably damaging	Het
Dennd3	T	A	15: 73,567,080	V1099D	possibly damaging	Het
Dnaic2	A	G	11: 114,752,990	N482S	probably benign	Het
Dock10	T	C	1: 80,606,173	T184A	probably damaging	Het
Ear2	T	A	14: 44,103,089	L68H	probably damaging	Het
Edn3	A	G	2: 174,779,732	T149A	probably benign	Het
Erf	C	T	7: 25,245,616	V131M	probably benign	Het
Esp34	A	G	17: 38,554,227		probably benign	Het
Gm13128	C	T	4: 144,331,207	T128I	probably benign	Het
Gm14548	G	T	7: 3,894,600	H499N	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga1	A	G	2: 39,047,087	V161A	probably benign	Het
Gpr17	T	A	18: 31,947,477	T178S	probably benign	Het
Gsg1l2	T	A	11: 67,774,711	I35N	possibly damaging	Het
Hmgn3	T	A	9: 83,112,231	T46S	probably damaging	Het
Hydin	A	C	8: 110,599,085	I4709L	probably benign	Het
Ifna9	A	T	4: 88,592,363	L8Q	probably null	Het
Kpna4	T	C	3: 69,126,733	E125G	probably null	Het
Lrriq1	A	G	10: 103,170,464	S1267P	probably damaging	Het
Mab21l1	G	T	3: 55,783,097	C35F	possibly damaging	Het
Map3k2	A	G	18: 32,203,051	D97G	probably damaging	Het
Mdn1	T	A	4: 32,741,073	I3799N	probably damaging	Het
Mki67	G	A	7: 135,697,429	R1959C	probably damaging	Het
Mroh1	A	T	15: 76,451,357	H1400L	possibly damaging	Het
Mroh4	T	A	15: 74,625,472	K167*	probably null	Het
Mroh8	A	G	2: 157,253,064	I334T	probably benign	Het
Olfr559	T	A	7: 102,724,367	Y41F	probably damaging	Het
Phf11d	T	A	14: 59,365,449		probably benign	Het
Phf21a	C	T	2: 92,351,752	T342I	possibly damaging	Het
Plekhh3	T	C	11: 101,164,765	E483G	possibly damaging	Het
Ppp1r3b	G	A	8: 35,384,201	A65T	probably damaging	Het
Prkcq	A	G	2: 11,256,286	H383R	probably damaging	Het
Pum1	T	C	4: 130,768,847	V961A	probably damaging	Het
Scgb2b27	T	C	7: 34,012,136	E96G	probably benign	Het
Sel1l2	T	A	2: 140,244,105	E522V	probably damaging	Het
Socs4	T	G	14: 47,290,161	C184W	probably damaging	Het
Spdye4c	A	T	2: 128,596,633	I304F	probably benign	Het
Sptbn2	A	G	19: 4,739,278	I1249V	possibly damaging	Het
Sys1	T	C	2: 164,464,587	S154P	probably benign	Het
Taf6l	T	C	19: 8,778,166	Q275R	possibly damaging	Het
Tas2r107	A	G	6: 131,659,912	V58A	possibly damaging	Het
Thada	T	A	17: 84,436,634	I749F	probably damaging	Het
Tubb1	T	A	2: 174,457,774	H416Q	probably benign	Het
Vmn2r109	G	A	17: 20,540,719	T792I	probably damaging	Het
Zfp988	A	G	4: 147,331,802	Q231R	probably benign	Het
Zmynd8	T	C	2: 165,842,787	I182V	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
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
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'- TGTGATGACTGTCAGCCTG -3'
(R):5'- AGACTGGCATGCGTTCAGAAC -3'

Sequencing Primer
(F):5'- TCAGCCTGACGGGAACAC -3'
(R):5'- ATGCGTTCAGAACCCGTGTC -3'

Posted On

2017-06-26