Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Zyg11a'

431335

Institutional Source

Beutler Lab

Gene Symbol

Zyg11a

Ensembl Gene

ENSMUSG00000034645

Gene Name

zyg-11 family member A, cell cycle regulator

Synonyms

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108181738-108218048 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108204746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

Ref Sequence

ENSEMBL: ENSMUSP00000152477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043793] [ENSMUST00000106690] [ENSMUST00000223127]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043793
AA Change: N284S

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038478
Gene: ENSMUSG00000034645
AA Change: N284S

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	218	700	2e-11	SMART
Blast:ARM	497	544	1e-5	BLAST
Blast:ARM	547	587	5e-7	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106690
AA Change: N286S

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102301
Gene: ENSMUSG00000034645
AA Change: N286S

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	139	621	1e-11	SMART
Blast:ARM	418	465	1e-5	BLAST
Blast:ARM	468	508	1e-7	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223127
AA Change: N286S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1791

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Aire	A	T	10: 78,039,691	S282T	probably benign	Het
Ak9	A	G	10: 41,340,891	E283G	probably benign	Het
Akap2	T	C	4: 57,855,987	Y439H	probably damaging	Het
Akap9	T	A	5: 4,001,665	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,906,981	D273G	possibly damaging	Het
Apob	T	C	12: 7,990,906	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,563,489	F550L	probably damaging	Het
Armc2	T	C	10: 41,963,850	E373G	probably benign	Het
Atp8b2	C	A	3: 89,946,031	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,255,887	Q87L	probably damaging	Het
Cd244	T	A	1: 171,577,974		probably benign	Het
Cdk10	T	A	8: 123,230,587		probably null	Het
Cenpe	C	A	3: 135,223,265	P310Q	probably damaging	Het
Chuk	T	A	19: 44,097,533		probably null	Het
Crebl2	T	C	6: 134,851,176	S104P	probably benign	Het
Ddo	A	G	10: 40,647,730	K239E	probably benign	Het
Defb5	A	G	8: 19,250,852		probably null	Het
Dhx35	T	A	2: 158,834,912	M422K	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gatm	G	A	2: 122,595,543	T409I	probably damaging	Het
Gdpd1	A	T	11: 87,059,506	D80E	probably damaging	Het
Gspt1	C	A	16: 11,253,979	G7C	unknown	Het
Hells	G	A	19: 38,954,800	S516N	probably benign	Het
Ints1	A	G	5: 139,752,787	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,774,881	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,715,809	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954	A385S	probably benign	Het
Map2	T	C	1: 66,415,256	S1102P	probably benign	Het
Mcm7	A	G	5: 138,164,871	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,246,995	R246H	possibly damaging	Het
Myo16	T	A	8: 10,560,226	M1189K	probably benign	Het
Olfr1302	G	T	2: 111,780,459	M46I	probably benign	Het
Olfr463	A	T	11: 87,893,066	I286N	probably damaging	Het
Olfr847	G	A	9: 19,375,767	T38I	probably damaging	Het
Otog	A	G	7: 46,274,571	N1118S	probably damaging	Het
Pcdhb7	G	T	18: 37,341,793		probably benign	Het
Picalm	C	T	7: 90,170,598	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,124,786	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,458,312	S745L	probably benign	Het
Rspry1	G	A	8: 94,636,760		probably null	Het
Scn5a	T	G	9: 119,495,713	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,997,835	L121P	probably damaging	Het
Slc17a1	A	T	13: 23,872,592		probably benign	Het
Slc6a12	A	G	6: 121,354,339	N183S	probably benign	Het
Smg9	C	A	7: 24,414,913		probably benign	Het
Spred1	G	A	2: 117,177,714	S367N	probably damaging	Het
Srpr	T	C	9: 35,211,350	V21A	probably benign	Het
Taar2	A	T	10: 23,940,729	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,395,985	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 127,198,607	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,336,114	N1044K	probably benign	Het
Usp24	A	G	4: 106,375,674	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,050,717	D472G	probably damaging	Het

Other mutations in Zyg11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Zyg11a	APN	4	108204902	missense	probably damaging	0.99
IGL01517:Zyg11a	APN	4	108201194	missense	probably null	1.00
IGL01619:Zyg11a	APN	4	108205217	missense	probably damaging	1.00
IGL02253:Zyg11a	APN	4	108183695	missense	probably null	0.99
R0090:Zyg11a	UTSW	4	108201347	splice site	probably benign
R0225:Zyg11a	UTSW	4	108204641	missense	probably damaging	1.00
R0610:Zyg11a	UTSW	4	108204857	missense	probably damaging	1.00
R0827:Zyg11a	UTSW	4	108210042	splice site	probably benign
R1568:Zyg11a	UTSW	4	108183646	critical splice donor site	probably null
R1752:Zyg11a	UTSW	4	108205282	missense	possibly damaging	0.81
R2051:Zyg11a	UTSW	4	108192047	splice site	probably benign
R2358:Zyg11a	UTSW	4	108196146	missense	possibly damaging	0.94
R3898:Zyg11a	UTSW	4	108210194	missense	probably damaging	0.99
R4288:Zyg11a	UTSW	4	108184469	missense	probably damaging	1.00
R4381:Zyg11a	UTSW	4	108201320	missense	possibly damaging	0.58
R4709:Zyg11a	UTSW	4	108205071	missense	probably benign	0.00
R4859:Zyg11a	UTSW	4	108210190	missense	probably damaging	0.98
R5303:Zyg11a	UTSW	4	108184432	critical splice donor site	probably null
R5349:Zyg11a	UTSW	4	108183732	missense	probably damaging	1.00
R5363:Zyg11a	UTSW	4	108189622	missense	probably damaging	1.00
R6175:Zyg11a	UTSW	4	108189681	missense	probably benign	0.01
R6254:Zyg11a	UTSW	4	108181794	missense	probably damaging	1.00
R6678:Zyg11a	UTSW	4	108189681	missense	probably benign	0.01
R7524:Zyg11a	UTSW	4	108192074	missense	probably damaging	1.00
R7789:Zyg11a	UTSW	4	108183648	missense	probably damaging	1.00
R8022:Zyg11a	UTSW	4	108189568	critical splice donor site	probably null
R8437:Zyg11a	UTSW	4	108217906	missense	probably damaging	1.00
R8986:Zyg11a	UTSW	4	108184431	critical splice donor site	probably null
R9129:Zyg11a	UTSW	4	108181812	missense	probably benign	0.00
R9383:Zyg11a	UTSW	4	108189729	missense	probably damaging	1.00
R9457:Zyg11a	UTSW	4	108217905	missense	probably damaging	1.00
R9489:Zyg11a	UTSW	4	108205179	missense	probably damaging	0.96
R9511:Zyg11a	UTSW	4	108205223	missense	probably damaging	1.00
X0061:Zyg11a	UTSW	4	108193993	missense	probably damaging	1.00
Z1176:Zyg11a	UTSW	4	108201282	missense	probably damaging	1.00
Z1177:Zyg11a	UTSW	4	108204800	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AAATATACGTTAGGGACAAACCTTC -3'
(R):5'- TACCGAACCTGGGAAGCTTG -3'

Sequencing Primer
(F):5'- GTTAGGGACAAACCTTCAAGCCTTG -3'
(R):5'- AACCTGGGAAGCTTGGATATCTCC -3'

Posted On

2016-10-05