Mutagenetix > Incidental Mutations

Incidental Mutation 'R7732:Zzz3'

595889

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 #

R7732 (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 152448842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 577 (Y577H)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: Y577H

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: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: Y577H

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: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: Y577H

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: Y76H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: Y76H

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

possibly damaging
Transcript: ENSMUST00000200570
AA Change: Y81H

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: Y81H

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,191,248	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,684,392	M69V		Het
Ap3m2	G	T	8: 22,797,089	D192E	probably benign	Het
Arel1	A	G	12: 84,927,889	V493A	probably benign	Het
Arhgap27	T	C	11: 103,340,043	H140R	probably benign	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Brd4	C	A	17: 32,221,412	A318S	unknown	Het
Cabp4	T	A	19: 4,135,995	T270S	probably benign	Het
Cd22	G	A	7: 30,870,057	R545C	probably damaging	Het
Cdc23	C	A	18: 34,636,702		probably null	Het
Chst4	G	A	8: 110,029,882	Q450*	probably null	Het
Ctsc	G	A	7: 88,297,159	R132Q	probably damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Cyp2b19	A	G	7: 26,771,344	D470G	possibly damaging	Het
Dcc	C	T	18: 71,446,435	G689D	probably benign	Het
Disc1	G	T	8: 125,250,975	G779*	probably null	Het
Dock1	T	G	7: 134,744,970	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,314,945	V14A	probably benign	Het
Epha10	A	G	4: 124,915,299	D779G		Het
Eprs	A	G	1: 185,372,939	H137R	probably benign	Het
Eps15l1	A	C	8: 72,380,976	L447R	probably damaging	Het
Esyt1	A	G	10: 128,521,825		probably null	Het
Fam221a	A	G	6: 49,372,629	K43E	probably benign	Het
Fanci	A	G	7: 79,412,652	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,953,601	W76R	probably damaging	Het
Fgd4	A	G	16: 16,484,595	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287	D365V	unknown	Het
Gabrd	C	T	4: 155,385,618	R378H	probably benign	Het
Gm3417	A	G	17: 14,967,685	V109A	probably benign	Het
Greb1	A	G	12: 16,673,863	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,336,629	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,243,435	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,693,418	V412A	probably damaging	Het
Igsf11	A	G	16: 39,008,798	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,626,377	M263I	probably benign	Het
Ms4a14	C	T	19: 11,301,683	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,253,784		probably null	Het
Nectin4	A	T	1: 171,386,678	E467V	probably benign	Het
Olfr933	A	G	9: 38,976,264	E196G	probably damaging	Het
Otogl	G	A	10: 107,806,664	H1302Y	probably benign	Het
Pigg	A	G	5: 108,318,975	S241G	probably benign	Het
Pom121l12	T	A	11: 14,599,843	V183D	probably damaging	Het
Prickle2	T	A	6: 92,411,224	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,692,802	V488G	probably benign	Het
Ranbp10	A	G	8: 105,773,091	I502T	probably benign	Het
Raph1	T	A	1: 60,533,288	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,025,981	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 32,968,607	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,669,099	N158S	probably benign	Het
Serping1	A	T	2: 84,770,104	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,266,330	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,101,688	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,650,988	T129A	probably benign	Het
Slit1	T	A	19: 41,604,408	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,809,693	S130P	probably damaging	Het
Sulf1	A	G	1: 12,842,789	D749G	probably benign	Het
Taok3	A	G	5: 117,193,748	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,704,162	A368D	probably benign	Het
Tdh	T	A	14: 63,496,058	H127L	probably damaging	Het
Tmem205	C	A	9: 21,927,407		probably null	Het
Tmem30a	A	C	9: 79,780,544	F114L	possibly damaging	Het
Tmem55b	C	T	14: 50,930,633	G48D	possibly damaging	Het
Tmprss15	T	C	16: 79,003,420	K607E	probably benign	Het
Tnxb	A	T	17: 34,694,280	D1756V	probably damaging	Het
Trhde	A	G	10: 114,788,064	F312L	probably benign	Het
Ttn	G	A	2: 76,826,449	P12494L	probably null	Het
Vmn2r61	A	G	7: 42,266,673	R237G	probably benign	Het
Vps13c	A	T	9: 67,940,516	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,789,929	T692A	probably benign	Het
Whamm	A	G	7: 81,571,424	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,336	S105G	probably damaging	Het
Zfp108	T	A	7: 24,261,527	H514Q	probably benign	Het
Znfx1	T	C	2: 167,042,669	K888E	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
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
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'- TATAAAGTTGCTGCCGGTACAC -3'
(R):5'- TTTTGGTCTAGCGGGCAAC -3'

Sequencing Primer
(F):5'- CACGTCGTATTTAGCACTCTATGAG -3'
(R):5'- GGACACTACAAGACATTTTC -3'

Posted On

2019-11-12