Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Zyg11b'

471217

Institutional Source

Beutler Lab

Gene Symbol

Zyg11b

Ensembl Gene

ENSMUSG00000034636

Gene Name

zyg-ll family member B, cell cycle regulator

Synonyms

1110046I03Rik, LOC242610, 2810482G21Rik, D4Mgi23

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108229724-108301096 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108245013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 504 (K504E)

Ref Sequence

ENSEMBL: ENSMUSP00000043844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043616]

AlphaFold

Q3UFS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043616
AA Change: K504E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043844
Gene: ENSMUSG00000034636
AA Change: K504E

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	370	722	3e-16	SMART
Blast:ARM	480	526	1e-17	BLAST
Blast:ARM	528	570	3e-19	BLAST
Blast:ARM	638	679	3e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130508

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het

Other mutations in Zyg11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Zyg11b	APN	4	108237416	missense	probably damaging	1.00
IGL01143:Zyg11b	APN	4	108244994	missense	possibly damaging	0.69
IGL01627:Zyg11b	APN	4	108250788	missense	probably benign	0.19
IGL02517:Zyg11b	APN	4	108266318	missense	probably damaging	0.96
IGL03166:Zyg11b	APN	4	108265889	missense	probably benign	0.32
R0326:Zyg11b	UTSW	4	108272253	missense	possibly damaging	0.77
R0345:Zyg11b	UTSW	4	108266407	missense	probably damaging	1.00
R0396:Zyg11b	UTSW	4	108255308	missense	probably damaging	1.00
R0571:Zyg11b	UTSW	4	108260042	missense	probably damaging	1.00
R0718:Zyg11b	UTSW	4	108242076	missense	possibly damaging	0.94
R1426:Zyg11b	UTSW	4	108250812	missense	probably damaging	1.00
R1495:Zyg11b	UTSW	4	108266213	missense	probably damaging	1.00
R1829:Zyg11b	UTSW	4	108266093	missense	possibly damaging	0.65
R1907:Zyg11b	UTSW	4	108255226	missense	probably damaging	1.00
R1916:Zyg11b	UTSW	4	108272283	missense	probably damaging	0.99
R1980:Zyg11b	UTSW	4	108265930	missense	probably damaging	0.99
R2070:Zyg11b	UTSW	4	108250819	missense	possibly damaging	0.73
R2495:Zyg11b	UTSW	4	108244724	critical splice donor site	probably null
R4717:Zyg11b	UTSW	4	108241872	missense	probably damaging	0.99
R5889:Zyg11b	UTSW	4	108237380	nonsense	probably null
R6606:Zyg11b	UTSW	4	108236089	missense	probably benign	0.00
R7151:Zyg11b	UTSW	4	108244922	missense	possibly damaging	0.49
R7316:Zyg11b	UTSW	4	108250502	missense	possibly damaging	0.81
R7488:Zyg11b	UTSW	4	108266458	missense	possibly damaging	0.65
R8936:Zyg11b	UTSW	4	108252159	missense
R9291:Zyg11b	UTSW	4	108250817	missense	probably benign	0.37
R9642:Zyg11b	UTSW	4	108259988	missense	probably damaging	1.00
X0022:Zyg11b	UTSW	4	108236101	missense	probably benign
X0067:Zyg11b	UTSW	4	108255346	missense	probably benign
Z1177:Zyg11b	UTSW	4	108255364	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAAACTGTGCAACTGTTAGG -3'
(R):5'- GTCCTGTAAATTGTTGTCAGACC -3'

Sequencing Primer
(F):5'- CTGTGCAACTGTTAGGTAAATTTCC -3'
(R):5'- AATTGTTGTCAGACCTCTACACAC -3'

Posted On

2017-03-31