Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Zar1l'

226035

Institutional Source

Beutler Lab

Gene Symbol

Zar1l

Ensembl Gene

ENSMUSG00000056586

Gene Name

zygote arrest 1-like

Synonyms

LOC545824

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

150430520-150441629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150436407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 223 (V223D)

Ref Sequence

ENSEMBL: ENSMUSP00000114116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118769]

AlphaFold

C3VD30

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117215

Predicted Effect

probably damaging
Transcript: ENSMUST00000118769
AA Change: V223D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114116
Gene: ENSMUSG00000056586
AA Change: V223D

Domain	Start	End	E-Value	Type
low complexity region	106	119	N/A	INTRINSIC
zf-3CxxC	195	280	3.38e-23	SMART

Meta Mutation Damage Score

0.5447

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Adcy4	A	T	14: 56,010,104 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,489,047 (GRCm39)	D347A	probably damaging	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Or6c214	G	A	10: 129,591,271 (GRCm39)	T16I	probably damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,076,948 (GRCm39)	E344G	probably damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Txndc5	T	C	13: 38,691,872 (GRCm39)	K165E	probably damaging	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het

Other mutations in Zar1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Zar1l	APN	5	150,441,569 (GRCm39)	missense	probably benign	0.11
IGL02626:Zar1l	APN	5	150,441,210 (GRCm39)	missense	probably damaging	0.98
R4615:Zar1l	UTSW	5	150,441,528 (GRCm39)	missense	probably benign	0.41
R5170:Zar1l	UTSW	5	150,441,050 (GRCm39)	critical splice donor site	probably null
R5546:Zar1l	UTSW	5	150,436,365 (GRCm39)	missense	probably damaging	1.00
R6528:Zar1l	UTSW	5	150,430,595 (GRCm39)	missense	probably damaging	1.00
R7207:Zar1l	UTSW	5	150,430,558 (GRCm39)	nonsense	probably null
R7473:Zar1l	UTSW	5	150,441,203 (GRCm39)	missense	probably damaging	1.00
Z1188:Zar1l	UTSW	5	150,430,658 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GATCCAAACACTTCATGACAGAGGCT -3'
(R):5'- AGCGAAGGAACACATTGTGTCACTTA -3'

Sequencing Primer
(F):5'- CACTTCATGACAGAGGCTTTACG -3'
(R):5'- ccagcaccacagggcag -3'

Posted On

2014-09-10