Mutagenetix > Incidental Mutations

Incidental Mutation 'R3927:Zzz3'

308319

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

040822-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152455862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 298 (Y298H)

Ref Sequence

ENSEMBL: ENSMUSP00000101709 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: Y798H

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

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: Y798H

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: Y799H

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

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: Y799H

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: Y799H

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

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: Y799H

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: Y298H

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

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: Y298H

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: ENSMUST00000135044

Predicted Effect

probably damaging
Transcript: ENSMUST00000200570
AA Change: Y302H

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

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: Y302H

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

0.2487

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,708,218		probably null	Het
Alpk1	T	C	3: 127,677,716	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,449,711	S303G	probably benign	Het
Axdnd1	A	G	1: 156,419,270	L79S	probably damaging	Het
Baz1a	A	G	12: 54,921,143	I667T	possibly damaging	Het
Bend5	A	G	4: 111,448,605	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,451,368	D438G	probably damaging	Het
Cog3	A	G	14: 75,743,558		probably benign	Het
Cyp2j6	T	C	4: 96,553,288	N55S	probably benign	Het
Eif4b	G	A	15: 102,084,310	G101R	probably damaging	Het
Epha2	T	C	4: 141,306,550	L40P	probably damaging	Het
Fig4	A	G	10: 41,263,139	V356A	probably benign	Het
Hal	T	C	10: 93,514,026		probably benign	Het
Helz	A	G	11: 107,685,292	Y1770C	unknown	Het
Meis3	A	G	7: 16,177,494	T39A	probably benign	Het
Nod1	G	T	6: 54,944,917	R139S	probably benign	Het
Olfr430	A	T	1: 174,069,312	N5Y	probably damaging	Het
Pacsin3	C	T	2: 91,262,941		probably null	Het
Plekhh1	T	A	12: 79,053,648	I130N	probably damaging	Het
Plxna2	G	A	1: 194,746,157	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531	I215M	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Sap130	A	T	18: 31,674,382	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,963,724	I156T	probably benign	Het
Slc37a2	G	A	9: 37,235,507	T338M	probably damaging	Het
Spinkl	T	A	18: 44,169,163		probably null	Het
Tmc5	T	A	7: 118,652,655	L657*	probably null	Het
Tmem217	A	G	17: 29,526,703	S18P	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb4a	A	G	17: 57,080,967	V353A	probably benign	Het
Ube3b	T	C	5: 114,415,680	F974L	probably benign	Het
Ubqln5	A	G	7: 104,128,471	L382P	probably damaging	Het
Ufsp2	T	A	8: 45,983,686		probably null	Het
Unkl	C	T	17: 25,229,329	T66I	probably damaging	Het
Xrn2	T	A	2: 147,038,189	N477K	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zzef1	T	C	11: 72,858,382	S899P	probably 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
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'- AGGCACTGTAGCTCATCTGAG -3'
(R):5'- CTCGGTGCTAGGAGATTTCAG -3'

Sequencing Primer
(F):5'- TGCCTGTAAACTCAGTGCAG -3'
(R):5'- AGGAGATTTCAGAGTTGGATAATCC -3'

Posted On

2015-04-17