Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:Zyg11a'

487670

Institutional Source

Beutler Lab

Gene Symbol

Zyg11a

Ensembl Gene

ENSMUSG00000034645

Gene Name

zyg-11 family member A, cell cycle regulator

Synonyms

MMRRC Submission

044317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108181738-108218048 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108189681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 532 (V532A)

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: V530A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038478
Gene: ENSMUSG00000034645
AA Change: V530A

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

probably benign
Transcript: ENSMUST00000106690
AA Change: V532A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102301
Gene: ENSMUSG00000034645
AA Change: V532A

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

probably benign
Transcript: ENSMUST00000223127
AA Change: V532A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,066,614	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,152,848	S227C	possibly damaging	Het
Adam30	A	T	3: 98,162,950	I700F	probably damaging	Het
Adam5	A	T	8: 24,786,151	M500K	probably benign	Het
Adgb	A	T	10: 10,398,943	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,386,005	G5819D	probably damaging	Het
Ank3	T	A	10: 69,927,727	Y17N	probably damaging	Het
Ano2	A	T	6: 125,992,955	M745L	probably benign	Het
Arap2	A	G	5: 62,714,731		probably null	Het
Atg2a	A	T	19: 6,241,729		probably benign	Het
AU021092	G	T	16: 5,220,448		probably null	Het
Bbs1	A	T	19: 4,890,721	L578Q	probably damaging	Het
Brd9	A	T	13: 73,960,314	E589D	probably damaging	Het
Calr4	A	G	4: 109,244,245	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,479	D429G	probably damaging	Het
Cdh22	G	T	2: 165,146,630	N268K	probably damaging	Het
Ceacam12	G	A	7: 18,067,387	G97D	probably damaging	Het
Clcn1	A	G	6: 42,314,162	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,812,560	T84A	probably benign	Het
Dnah7a	G	A	1: 53,433,022	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,322,798		probably benign	Het
Ehd2	G	A	7: 15,963,464	Q4*	probably null	Het
Eml5	A	G	12: 98,794,456	V1726A	possibly damaging	Het
Esam	A	G	9: 37,528,248	T10A	probably benign	Het
Fam19a1	A	G	6: 96,115,740	H35R	probably benign	Het
Fbxl6	A	G	15: 76,538,433	L95P	probably benign	Het
Fbxw18	T	A	9: 109,676,879	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,636,327	S73P	probably benign	Het
Fndc1	T	A	17: 7,772,647	H739L	unknown	Het
Foxp1	G	A	6: 98,966,076	T237I	probably damaging	Het
Gm13212	A	T	4: 145,624,241		probably benign	Het
Gm4969	C	A	7: 19,100,889		probably benign	Het
Greb1	A	T	12: 16,674,770	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hoxa13	G	T	6: 52,259,928	N281K	probably damaging	Het
Hspg2	A	G	4: 137,569,518	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,645,034	Y153*	probably null	Het
Iglv1	C	A	16: 19,085,094	A92S	probably damaging	Het
Itih1	A	G	14: 30,931,195	S759P	probably damaging	Het
Kctd1	G	T	18: 14,969,631	S831*	probably null	Het
Kif20a	T	A	18: 34,628,146	S265T	probably damaging	Het
Kif22	T	A	7: 127,031,056	E436V	possibly damaging	Het
Kif27	A	G	13: 58,311,237	W927R	probably damaging	Het
Lcorl	G	A	5: 45,776,490	P66L	probably damaging	Het
Lct	A	G	1: 128,327,714	L197P	probably damaging	Het
Lefty1	T	C	1: 180,935,149	S14P	unknown	Het
Lnp1	A	G	16: 56,917,492	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,822,832	H927Q	probably benign	Het
Mta3	A	G	17: 83,791,793	T430A	probably benign	Het
Muc2	G	T	7: 141,696,632	C627F	probably damaging	Het
Myh13	A	G	11: 67,354,762	D1076G	probably benign	Het
Nck2	T	A	1: 43,533,569	M1K	probably null	Het
Nipal1	A	G	5: 72,663,555	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,378,001		probably null	Het
Nr2f2	A	G	7: 70,358,198	S179P	probably damaging	Het
Olfr1013	A	T	2: 85,770,308	N169I	probably benign	Het
Olfr345	A	G	2: 36,640,051	D4G	probably benign	Het
Olfr50	A	T	2: 36,793,968	H244L	probably damaging	Het
Oxt	G	T	2: 130,576,243		probably benign	Het
Pank2	T	A	2: 131,280,261	Y235*	probably null	Het
Pear1	A	G	3: 87,752,133	L798P	possibly damaging	Het
Pex14	T	C	4: 148,961,699	H258R	probably benign	Het
Pmpcb	A	G	5: 21,757,033	I487V	probably benign	Het
Ppie	T	C	4: 123,137,569	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639	R65*	probably null	Het
Ralgapb	T	C	2: 158,446,155	S371P	probably damaging	Het
Ros1	T	C	10: 52,101,785	H1455R	probably benign	Het
Sacs	C	A	14: 61,212,826	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,731,891	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,012,250	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,455,311	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,703,559	L324*	probably null	Het
Slc7a9	A	T	7: 35,465,852	Q474L	probably damaging	Het
Smc5	C	A	19: 23,214,170	V875L	possibly damaging	Het
Snap91	T	C	9: 86,825,000	R246G	probably damaging	Het
Sned1	A	G	1: 93,275,474		probably null	Het
Spink14	G	A	18: 44,031,871	G85E	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
St13	A	G	15: 81,399,305		probably null	Het
Stk10	A	G	11: 32,603,761	M593V	possibly damaging	Het
Tex21	C	A	12: 76,198,933	A530S	probably benign	Het
Tln2	T	A	9: 67,224,081	K1394N	probably damaging	Het
Trhr2	C	A	8: 122,357,379	R294L	probably damaging	Het
Unc79	A	T	12: 103,183,449	I2408F	probably damaging	Het
Wdr24	T	C	17: 25,826,578	L429P	probably damaging	Het
Wwp2	T	A	8: 107,483,407	I139N	possibly damaging	Het
Zfp111	G	A	7: 24,198,129	R686C	unknown	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
R5517:Zyg11a	UTSW	4	108204746	missense	possibly damaging	0.94
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'- GACCAAGTACTTTGCTTTGTATCAC -3'
(R):5'- GGGGCTAGAACTGAAAGGCTTC -3'

Sequencing Primer
(F):5'- AAAAGAACACTCAGGTCACTTTATC -3'
(R):5'- TGAAAGGCTTCAGCATGCTAC -3'

Posted On

2017-10-10