Mutagenetix > Incidental Mutations

Incidental Mutation 'R7344:Zzz3'

570072

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7344 (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 152452099 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 770 (S770P)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: S769P

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: S769P

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: S770P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: S770P

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: S770P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: S770P

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: S269P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: S269P

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

probably benign
Transcript: ENSMUST00000200570
AA Change: S273P

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

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: S273P

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

0.0616

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	C	11: 58,291,447	Y216S		Het
9530053A07Rik	T	C	7: 28,140,279	S506P	possibly damaging	Het
9530053A07Rik	C	T	7: 28,152,760	T1236I	possibly damaging	Het
AI314180	A	T	4: 58,824,770	D1070E	probably benign	Het
Anpep	G	T	7: 79,838,650	S477R	possibly damaging	Het
Atp7b	T	C	8: 21,997,499	D1293G	probably damaging	Het
Caprin2	A	G	6: 148,873,067	V249A	probably benign	Het
Cep41	C	T	6: 30,693,656	R5K	probably benign	Het
Cyp2c23	A	T	19: 44,021,737		probably null	Het
Dazap2	T	A	15: 100,616,943	V15E	possibly damaging	Het
Epha8	T	A	4: 136,934,538	H582L	probably benign	Het
Fam193a	A	G	5: 34,485,730	T1513A	possibly damaging	Het
Fancd2	T	C	6: 113,568,709	V901A	probably benign	Het
Fbl	T	A	7: 28,178,935	V284E	probably damaging	Het
Fbln2	A	G	6: 91,269,973	E1065G	probably damaging	Het
Fbxw16	A	G	9: 109,449,035	V25A	probably benign	Het
Gm11562	T	G	11: 99,620,369	T2P	unknown	Het
Gm17728	G	T	17: 9,422,123	G22W	probably damaging	Het
Gm30083	A	G	14: 33,999,580	Y190H	probably benign	Het
Gm6793	T	A	8: 112,014,929	D27V	probably damaging	Het
Gm7324	A	G	14: 43,714,677	D259G	probably benign	Het
Gtf2a1l	G	A	17: 88,694,103	G129D	probably damaging	Het
Ildr2	T	A	1: 166,294,597	V203E	probably damaging	Het
Ipo4	C	T	14: 55,635,531	R23Q	probably benign	Het
Irx5	A	G	8: 92,359,555	T89A	probably benign	Het
Itga7	A	G	10: 128,940,929	N221S	possibly damaging	Het
Lpcat2	T	C	8: 92,875,567	W259R	probably damaging	Het
Lrrc8e	C	T	8: 4,234,815	R347C	probably damaging	Het
Lyst	T	A	13: 13,706,555	D2790E	probably benign	Het
Magi2	G	A	5: 20,550,240	R604Q	probably benign	Het
Mertk	C	A	2: 128,771,497	H478N	probably benign	Het
Mical3	T	A	6: 121,036,544	K293*	probably null	Het
Nod2	T	C	8: 88,660,582	L168P	probably damaging	Het
Npnt	T	C	3: 132,908,339		probably null	Het
Olfr1006	A	T	2: 85,674,931	Y73*	probably null	Het
Olfr1375	T	G	11: 51,048,295	F63V	probably damaging	Het
Olfr312	A	T	11: 58,831,482	E109D	probably damaging	Het
Olfr884	T	C	9: 38,047,957	M245T	probably benign	Het
Plcd4	A	T	1: 74,554,652	D312V	probably damaging	Het
Prss58	A	G	6: 40,895,465	I208T	probably damaging	Het
Pus7l	A	G	15: 94,540,617	S116P	probably benign	Het
Rcc1l	A	T	5: 134,176,437	I93N	probably benign	Het
Rftn2	A	C	1: 55,226,152	Y36*	probably null	Het
Rp1l1	G	A	14: 64,029,620	R885Q	probably benign	Het
Rpgrip1	A	T	14: 52,140,659	D488V	probably damaging	Het
Sacs	A	G	14: 61,207,444	Y2313C	possibly damaging	Het
Scrib	T	C	15: 76,049,258	Y1332C	probably damaging	Het
Serpinb10	T	C	1: 107,540,942	V105A	probably damaging	Het
Slc35d1	A	T	4: 103,213,046		probably null	Het
Slfn3	T	C	11: 83,212,822	V173A	probably benign	Het
Smpd3	C	T	8: 106,265,193	V243M	probably damaging	Het
Stard9	A	T	2: 120,704,686	D3808V	possibly damaging	Het
Supt16	A	T	14: 52,173,571	V692D	probably damaging	Het
Tapt1	A	T	5: 44,188,657	V317E	probably damaging	Het
Vmn2r101	T	C	17: 19,611,797	I685T	probably benign	Het
Vmn2r92	A	G	17: 18,167,251	I173V	probably benign	Het
Vps54	T	C	11: 21,274,999	I165T	probably damaging	Het
Zswim4	G	A	8: 84,223,698	R628*	probably null	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
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
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
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'- AATGCTCGTAAATGGTGGGG -3'
(R):5'- GCCTATGCTGAATTTTCCACAAAAG -3'

Sequencing Primer
(F):5'- AATGCTCGTAAATGGTGGGGTATATG -3'
(R):5'- TGCTGAATTTTCCACAAAAGAATAC -3'

Posted On

2019-09-13