Mutagenetix > Incidental Mutations

Incidental Mutation 'R5248:Zzz3'

398624

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

042819-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5248 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152427545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 80 (Q80R)

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: Q80R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: Q80R

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: Q80R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: Q80R

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: Q80R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: Q80R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,438	E344D	probably benign	Het
Acoxl	G	A	2: 128,075,935		probably null	Het
Adora1	A	T	1: 134,203,486	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,868,501	D115E	possibly damaging	Het
Ank3	A	G	10: 69,987,108	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,667,380	H454R	probably damaging	Het
Ap4e1	C	T	2: 127,064,922	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,647,111	F328L	probably benign	Het
Bbip1	G	A	19: 53,931,355		probably benign	Het
Brsk1	G	A	7: 4,708,866	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,737,136	P716T	possibly damaging	Het
Clpx	T	C	9: 65,320,850	V380A	probably damaging	Het
Epha3	T	A	16: 63,598,257	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,614,993	P712T	probably damaging	Het
Itpr1	C	A	6: 108,542,062	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,620,997	E1080G	probably benign	Het
Macf1	G	A	4: 123,401,774	R3163*	probably null	Het
Map4k5	T	C	12: 69,841,981	D292G	probably benign	Het
Mau2	A	T	8: 70,028,723	C217S	probably benign	Het
Mtf1	T	C	4: 124,820,427	F210L	probably damaging	Het
Mtif2	G	A	11: 29,536,889	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,783,609		probably benign	Het
Mybpc3	C	A	2: 91,125,228		probably null	Het
Ncmap	T	C	4: 135,380,119		probably null	Het
Nek9	A	G	12: 85,308,977	F672S	probably damaging	Het
Nuak1	A	T	10: 84,409,678	I101N	probably damaging	Het
Olfr285	T	C	15: 98,313,430	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,129,173	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,485,886	Q243P	probably benign	Het
Pcf11	T	G	7: 92,661,491	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,534,545	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,901	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,337,052		probably null	Het
Rhobtb1	A	G	10: 69,248,785	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110	C110*	probably null	Het
Setx	T	A	2: 29,148,418	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,604,517	M282L	probably benign	Het
Slc7a1	A	T	5: 148,333,988	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,186,581	D69V	possibly damaging	Het
Srpk3	C	T	X: 73,774,949	R82*	probably null	Het
Tas2r120	A	T	6: 132,657,147	N64I	probably damaging	Het
Tcf25	G	T	8: 123,373,939	A23S	probably damaging	Het
Tigd2	A	T	6: 59,211,153	K335I	probably damaging	Het
Tlr6	A	G	5: 64,955,304	S87P	probably benign	Het
Tmem135	T	A	7: 89,147,992	Y352F	probably damaging	Het
Tob2	T	C	15: 81,851,717	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Vmn1r179	T	C	7: 23,929,053	V223A	probably damaging	Het
Zfp946	T	C	17: 22,454,466	V67A	probably benign	Het
Zswim4	G	T	8: 84,219,932	N698K	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
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
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'- CATAGTATGGCTGCTTCCCG -3'
(R):5'- CTGAACTATTTGTGGCTTCAGC -3'

Sequencing Primer
(F):5'- CTCGTGTTACAAGATCAACAGTGG -3'
(R):5'- TGTGGCTTCAGCTCTAAGACAGC -3'

Posted On

2016-07-06