Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Zyg11a'

599718

Institutional Source

Beutler Lab

Gene Symbol

Zyg11a

Ensembl Gene

ENSMUSG00000034645

Gene Name

zyg-11 family member A, cell cycle regulator

Synonyms

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108038935-108075245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108040845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 703 (P703S)

Ref Sequence

ENSEMBL: ENSMUSP00000152477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043793] [ENSMUST00000052999] [ENSMUST00000106690] [ENSMUST00000116307] [ENSMUST00000116309] [ENSMUST00000125647] [ENSMUST00000223127] [ENSMUST00000126900] [ENSMUST00000130942]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043793
AA Change: P701S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038478
Gene: ENSMUSG00000034645
AA Change: P701S

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: ENSMUST00000052999

SMART Domains

Protein: ENSMUSP00000051268
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH_1	41	296	1.1e-60	PFAM
Pfam:ECH_2	46	225	5.1e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106690
AA Change: P703S

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

SMART Domains

Protein: ENSMUSP00000102301
Gene: ENSMUSG00000034645
AA Change: P703S

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: ENSMUST00000106691

SMART Domains

Protein: ENSMUSP00000102302
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH_1	1	119	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116307

SMART Domains

Protein: ENSMUSP00000112009
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH	39	131	6.7e-17	PFAM
Pfam:ECH	124	257	5.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116309

SMART Domains

Protein: ENSMUSP00000112011
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH	39	288	3.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125647

SMART Domains

Protein: ENSMUSP00000123913
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223127
AA Change: P703S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126900

Predicted Effect

probably benign
Transcript: ENSMUST00000130942

SMART Domains

Protein: ENSMUSP00000124746
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH	39	103	8.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135718

SMART Domains

Protein: ENSMUSP00000114371
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH_1	1	74	9.6e-16	PFAM
Pfam:ECH_2	2	74	1.1e-11	PFAM
Pfam:ECH_1	69	184	2.8e-14	PFAM

Meta Mutation Damage Score

0.1073

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het

Other mutations in Zyg11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Zyg11a	APN	4	108,062,099 (GRCm39)	missense	probably damaging	0.99
IGL01517:Zyg11a	APN	4	108,058,391 (GRCm39)	missense	probably null	1.00
IGL01619:Zyg11a	APN	4	108,062,414 (GRCm39)	missense	probably damaging	1.00
IGL02253:Zyg11a	APN	4	108,040,892 (GRCm39)	missense	probably null	0.99
R0090:Zyg11a	UTSW	4	108,058,544 (GRCm39)	splice site	probably benign
R0225:Zyg11a	UTSW	4	108,061,838 (GRCm39)	missense	probably damaging	1.00
R0610:Zyg11a	UTSW	4	108,062,054 (GRCm39)	missense	probably damaging	1.00
R0827:Zyg11a	UTSW	4	108,067,239 (GRCm39)	splice site	probably benign
R1568:Zyg11a	UTSW	4	108,040,843 (GRCm39)	critical splice donor site	probably null
R1752:Zyg11a	UTSW	4	108,062,479 (GRCm39)	missense	possibly damaging	0.81
R2051:Zyg11a	UTSW	4	108,049,244 (GRCm39)	splice site	probably benign
R2358:Zyg11a	UTSW	4	108,053,343 (GRCm39)	missense	possibly damaging	0.94
R3898:Zyg11a	UTSW	4	108,067,391 (GRCm39)	missense	probably damaging	0.99
R4288:Zyg11a	UTSW	4	108,041,666 (GRCm39)	missense	probably damaging	1.00
R4381:Zyg11a	UTSW	4	108,058,517 (GRCm39)	missense	possibly damaging	0.58
R4709:Zyg11a	UTSW	4	108,062,268 (GRCm39)	missense	probably benign	0.00
R4859:Zyg11a	UTSW	4	108,067,387 (GRCm39)	missense	probably damaging	0.98
R5303:Zyg11a	UTSW	4	108,041,629 (GRCm39)	critical splice donor site	probably null
R5349:Zyg11a	UTSW	4	108,040,929 (GRCm39)	missense	probably damaging	1.00
R5363:Zyg11a	UTSW	4	108,046,819 (GRCm39)	missense	probably damaging	1.00
R5517:Zyg11a	UTSW	4	108,061,943 (GRCm39)	missense	possibly damaging	0.94
R6175:Zyg11a	UTSW	4	108,046,878 (GRCm39)	missense	probably benign	0.01
R6254:Zyg11a	UTSW	4	108,038,991 (GRCm39)	missense	probably damaging	1.00
R6678:Zyg11a	UTSW	4	108,046,878 (GRCm39)	missense	probably benign	0.01
R7524:Zyg11a	UTSW	4	108,049,271 (GRCm39)	missense	probably damaging	1.00
R8022:Zyg11a	UTSW	4	108,046,765 (GRCm39)	critical splice donor site	probably null
R8437:Zyg11a	UTSW	4	108,075,103 (GRCm39)	missense	probably damaging	1.00
R8986:Zyg11a	UTSW	4	108,041,628 (GRCm39)	critical splice donor site	probably null
R9129:Zyg11a	UTSW	4	108,039,009 (GRCm39)	missense	probably benign	0.00
R9383:Zyg11a	UTSW	4	108,046,926 (GRCm39)	missense	probably damaging	1.00
R9457:Zyg11a	UTSW	4	108,075,102 (GRCm39)	missense	probably damaging	1.00
R9489:Zyg11a	UTSW	4	108,062,376 (GRCm39)	missense	probably damaging	0.96
R9511:Zyg11a	UTSW	4	108,062,420 (GRCm39)	missense	probably damaging	1.00
X0061:Zyg11a	UTSW	4	108,051,190 (GRCm39)	missense	probably damaging	1.00
Z1176:Zyg11a	UTSW	4	108,058,479 (GRCm39)	missense	probably damaging	1.00
Z1177:Zyg11a	UTSW	4	108,061,997 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTTATCTCTCTTGACCAAGGAAAG -3'
(R):5'- ACTGCATAGTACATCTGTCTCTG -3'

Sequencing Primer
(F):5'- AATTACTGTGTAGCCCAGGC -3'
(R):5'- GCATAGTACATCTGTCTCTGTAGAAC -3'

Posted On

2019-11-26