Mutagenetix > Incidental Mutation

Incidental Mutation 'R8926:Zzz3'

679526

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

6430567E01Rik, 3110065C23Rik

MMRRC Submission

068770-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8926 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152101110-152168463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152133529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 196 (N196Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089982
AA Change: N196Y

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: N196Y

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

possibly damaging
Transcript: ENSMUST00000106100
AA Change: N196Y

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: N196Y

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

possibly damaging
Transcript: ENSMUST00000106101
AA Change: N196Y

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: N196Y

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

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

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,405,446 (GRCm39)	D296V	possibly damaging	Het
Ahi1	T	C	10: 20,930,982 (GRCm39)	Y941H	probably damaging	Het
Bscl2	T	C	19: 8,825,348 (GRCm39)		probably null	Het
C1s1	C	T	6: 124,510,325 (GRCm39)	G374D	probably damaging	Het
C1s1	T	C	6: 124,513,322 (GRCm39)	D235G	possibly damaging	Het
Cacna1e	C	T	1: 154,577,080 (GRCm39)	V106I	possibly damaging	Het
Ccdc97	G	A	7: 25,412,494 (GRCm39)	A316V	probably benign	Het
Ces1a	A	G	8: 93,751,841 (GRCm39)	V431A	probably benign	Het
Cftr	C	T	6: 18,268,003 (GRCm39)	S684L	possibly damaging	Het
Cgnl1	T	A	9: 71,632,535 (GRCm39)	N272I	probably benign	Het
Csf2rb	C	T	15: 78,224,749 (GRCm39)	S169L	probably benign	Het
Cux1	T	A	5: 136,338,404 (GRCm39)		probably benign	Het
Cyp11b1	T	A	15: 74,711,087 (GRCm39)	Y197F	probably benign	Het
Cyp1a2	T	C	9: 57,588,361 (GRCm39)	K288E	probably benign	Het
Dapk1	T	A	13: 60,908,734 (GRCm39)	W1116R	probably damaging	Het
Dclre1c	A	T	2: 3,434,827 (GRCm39)	D97V	probably damaging	Het
Efcc1	A	G	6: 87,726,169 (GRCm39)	R323G	probably benign	Het
Epha6	T	A	16: 59,659,662 (GRCm39)	I819F	probably benign	Het
Fam118b	A	T	9: 35,146,732 (GRCm39)	L45Q	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,869 (GRCm39)	C1611Y	probably damaging	Het
Fsd1l	T	G	4: 53,686,493 (GRCm39)	I302S	probably benign	Het
Fsip2	T	A	2: 82,823,927 (GRCm39)	D6553E	possibly damaging	Het
Gje1	C	T	10: 14,592,435 (GRCm39)	V116I	probably benign	Het
H2-T9	T	A	17: 36,420,626 (GRCm39)		probably null	Het
Helz	C	A	11: 107,563,509 (GRCm39)	H1650N	unknown	Het
Hltf	T	G	3: 20,123,323 (GRCm39)		probably null	Het
Intu	T	A	3: 40,608,139 (GRCm39)	D50E	possibly damaging	Het
Ipo9	C	T	1: 135,313,952 (GRCm39)		probably benign	Het
Lama5	G	A	2: 179,835,783 (GRCm39)	T1217I	probably benign	Het
Lct	T	A	1: 128,228,148 (GRCm39)	Y1115F	probably damaging	Het
Lpgat1	T	C	1: 191,492,120 (GRCm39)	L202P	probably damaging	Het
Lrp1	C	T	10: 127,381,671 (GRCm39)	R3801H	probably benign	Het
Mtfmt	T	A	9: 65,344,414 (GRCm39)	Y113*	probably null	Het
Myh7	A	G	14: 55,222,533 (GRCm39)	F801L	probably benign	Het
Myl4	G	T	11: 104,476,572 (GRCm39)	M191I	probably benign	Het
Myo3a	C	A	2: 22,401,074 (GRCm39)	N614K	possibly damaging	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nol10	C	A	12: 17,466,871 (GRCm39)	Q584K	probably benign	Het
Nup210	C	A	6: 91,030,434 (GRCm39)	G919C	probably damaging	Het
Or13a20	G	A	7: 140,232,113 (GRCm39)	V74M	probably benign	Het
Or5p57	G	A	7: 107,665,513 (GRCm39)	T134I	probably benign	Het
Pdcd6ip	T	A	9: 113,514,493 (GRCm39)	Q244L	probably benign	Het
Pde4d	T	C	13: 110,074,625 (GRCm39)	V410A	probably benign	Het
Plekha7	A	T	7: 115,756,223 (GRCm39)		probably benign	Het
Plpp4	A	T	7: 128,923,211 (GRCm39)		probably null	Het
Poln	T	C	5: 34,286,769 (GRCm39)	N133S	probably benign	Het
Ppfibp1	A	G	6: 146,920,986 (GRCm39)	N575D	probably damaging	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prkar2b	A	G	12: 32,111,080 (GRCm39)	M1T	probably null	Het
Ptcd3	A	G	6: 71,869,464 (GRCm39)	F378S	probably damaging	Het
Rab27b	C	A	18: 70,129,144 (GRCm39)	R50L	probably damaging	Het
Rpl7a	T	G	2: 26,801,557 (GRCm39)	F83C	probably damaging	Het
Slc8a2	A	G	7: 15,868,194 (GRCm39)	E142G	probably damaging	Het
Slc9a4	A	T	1: 40,619,928 (GRCm39)	I85L	possibly damaging	Het
Sorcs1	C	A	19: 50,241,096 (GRCm39)	W430L	possibly damaging	Het
Spaca6	T	A	17: 18,058,790 (GRCm39)		probably null	Het
Synrg	C	A	11: 83,881,567 (GRCm39)	A301E	possibly damaging	Het
Tcl1	G	A	12: 105,184,969 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,153,780 (GRCm39)	V158M	probably damaging	Het
Tex2	T	G	11: 106,459,230 (GRCm39)	T67P		Het
Tlr9	A	T	9: 106,103,213 (GRCm39)	I835L	probably benign	Het
Tmem185b	G	C	1: 119,454,406 (GRCm39)	V56L	probably benign	Het
Tssk2	C	T	16: 17,717,562 (GRCm39)	R322W	probably benign	Het
Ttn	T	A	2: 76,571,735 (GRCm39)	Y26386F	probably benign	Het
Txndc16	C	A	14: 45,406,771 (GRCm39)	R228I	possibly damaging	Het
Uspl1	T	G	5: 149,138,701 (GRCm39)		probably null	Het
Vmn1r113	A	T	7: 20,521,874 (GRCm39)	H222L	possibly damaging	Het
Vnn1	T	G	10: 23,776,587 (GRCm39)	S313A	probably benign	Het
Zc3hc1	A	T	6: 30,374,887 (GRCm39)	L218Q	possibly damaging	Het
Znrf1	T	G	8: 112,264,143 (GRCm39)	L124R	probably damaging	Het

Other mutations in Zzz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Zzz3	APN	3	152,134,151 (GRCm39)	missense	probably benign	0.16
IGL00707:Zzz3	APN	3	152,154,680 (GRCm39)	nonsense	probably null
IGL00983:Zzz3	APN	3	152,161,447 (GRCm39)	splice site	probably benign
IGL01586:Zzz3	APN	3	152,161,476 (GRCm39)	missense	possibly damaging	0.80
IGL01973:Zzz3	APN	3	152,134,007 (GRCm39)	missense	probably benign	0.00
IGL02002:Zzz3	APN	3	152,157,006 (GRCm39)	missense	probably damaging	0.98
IGL02009:Zzz3	APN	3	152,133,752 (GRCm39)	missense	possibly damaging	0.80
IGL02260:Zzz3	APN	3	152,157,720 (GRCm39)	missense	probably benign	0.04
IGL02336:Zzz3	APN	3	152,133,696 (GRCm39)	missense	possibly damaging	0.74
IGL02454:Zzz3	APN	3	152,134,211 (GRCm39)	missense	probably benign	0.03
IGL02519:Zzz3	APN	3	152,133,027 (GRCm39)	missense	probably damaging	1.00
R0067:Zzz3	UTSW	3	152,134,040 (GRCm39)	missense	possibly damaging	0.88
R0067:Zzz3	UTSW	3	152,134,040 (GRCm39)	missense	possibly damaging	0.88
R0314:Zzz3	UTSW	3	152,133,085 (GRCm39)	missense	probably benign	0.00
R0536:Zzz3	UTSW	3	152,154,465 (GRCm39)	missense	probably damaging	1.00
R1706:Zzz3	UTSW	3	152,154,735 (GRCm39)	missense	probably damaging	1.00
R2869:Zzz3	UTSW	3	152,152,481 (GRCm39)	synonymous	silent
R2870:Zzz3	UTSW	3	152,152,481 (GRCm39)	synonymous	silent
R2871:Zzz3	UTSW	3	152,152,481 (GRCm39)	synonymous	silent
R2872:Zzz3	UTSW	3	152,152,481 (GRCm39)	synonymous	silent
R3927:Zzz3	UTSW	3	152,161,499 (GRCm39)	missense	probably damaging	1.00
R4195:Zzz3	UTSW	3	152,134,102 (GRCm39)	missense	probably benign	0.02
R4768:Zzz3	UTSW	3	152,154,420 (GRCm39)	missense	probably damaging	1.00
R5248:Zzz3	UTSW	3	152,133,182 (GRCm39)	missense	probably damaging	0.99
R5566:Zzz3	UTSW	3	152,161,461 (GRCm39)	missense	probably damaging	1.00
R5752:Zzz3	UTSW	3	152,157,759 (GRCm39)	missense	possibly damaging	0.48
R5782:Zzz3	UTSW	3	152,133,737 (GRCm39)	missense	possibly damaging	0.69
R5884:Zzz3	UTSW	3	152,156,295 (GRCm39)	missense	probably damaging	1.00
R6008:Zzz3	UTSW	3	152,133,788 (GRCm39)	missense	probably benign	0.01
R6155:Zzz3	UTSW	3	152,133,319 (GRCm39)	missense	possibly damaging	0.57
R6557:Zzz3	UTSW	3	152,134,097 (GRCm39)	missense	probably damaging	1.00
R6865:Zzz3	UTSW	3	152,133,690 (GRCm39)	missense	probably benign	0.01
R7344:Zzz3	UTSW	3	152,157,736 (GRCm39)	missense	probably damaging	0.98
R7588:Zzz3	UTSW	3	152,128,405 (GRCm39)	missense	possibly damaging	0.85
R7636:Zzz3	UTSW	3	152,133,289 (GRCm39)	missense	probably benign
R7732:Zzz3	UTSW	3	152,154,479 (GRCm39)	missense	probably damaging	1.00
R8157:Zzz3	UTSW	3	152,155,285 (GRCm39)	missense	probably null	0.71
R8490:Zzz3	UTSW	3	152,134,290 (GRCm39)	nonsense	probably null
R9143:Zzz3	UTSW	3	152,163,908 (GRCm39)	missense	probably benign	0.04
R9243:Zzz3	UTSW	3	152,133,920 (GRCm39)	missense	probably damaging	1.00
R9494:Zzz3	UTSW	3	152,133,468 (GRCm39)	missense	possibly damaging	0.88
R9540:Zzz3	UTSW	3	152,156,306 (GRCm39)	nonsense	probably null
X0018:Zzz3	UTSW	3	152,134,370 (GRCm39)	missense	possibly damaging	0.88
Z1176:Zzz3	UTSW	3	152,154,734 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAACGCTGTCTTAGAGCTGAAG -3'
(R):5'- AGAACACTGAGGTCTGGGTTTC -3'

Sequencing Primer
(F):5'- CTTAGAGCTGAAGCCACAAATAGTTC -3'
(R):5'- AGGTCTGGGTTTCCGAATCCC -3'

Posted On

2021-08-02