Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01803:Zar1l'

155584

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zar1l

Ensembl Gene

ENSMUSG00000056586

Gene Name

zygote arrest 1-like

Synonyms

LOC545824

Accession Numbers

Essential gene?

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

Stock #

IGL01803

Quality Score

Status

Chromosome

Chromosomal Location

150430520-150441629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150441569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 19 (Y19F)

Ref Sequence

ENSEMBL: ENSMUSP00000114116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000118769] [ENSMUST00000202003] [ENSMUST00000202313]

AlphaFold

C3VD30

Predicted Effect

probably benign
Transcript: ENSMUST00000044620

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	746	761	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
Pfam:BRCA2	982	1014	2.6e-13	PFAM
Pfam:BRCA2	1193	1225	3.9e-16	PFAM
low complexity region	1239	1252	N/A	INTRINSIC
Pfam:BRCA2	1395	1425	1.4e-13	PFAM
Pfam:BRCA2	1492	1524	1.8e-13	PFAM
Pfam:BRCA2	1624	1655	8.4e-12	PFAM
Pfam:BRCA2	1925	1957	8e-15	PFAM
Pfam:BRCA2	2005	2037	1.7e-11	PFAM
Pfam:BRCA-2_helical	2402	2588	1.3e-94	PFAM
Pfam:BRCA-2_OB1	2591	2717	5.3e-44	PFAM
Tower	2752	2793	2.37e-18	SMART
Pfam:BRCA-2_OB3	2971	3104	1.5e-49	PFAM
low complexity region	3197	3208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118769
AA Change: Y19F

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114116
Gene: ENSMUSG00000056586
AA Change: Y19F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200686

Predicted Effect

probably benign
Transcript: ENSMUST00000202003

SMART Domains

Protein: ENSMUSP00000144676
Gene: ENSMUSG00000041147

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	746	761	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202192

Predicted Effect

probably benign
Transcript: ENSMUST00000202313

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	746	761	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
Pfam:BRCA2	982	1014	2.6e-13	PFAM
Pfam:BRCA2	1193	1225	3.9e-16	PFAM
low complexity region	1239	1252	N/A	INTRINSIC
Pfam:BRCA2	1395	1425	1.4e-13	PFAM
Pfam:BRCA2	1492	1524	1.8e-13	PFAM
Pfam:BRCA2	1624	1655	8.4e-12	PFAM
Pfam:BRCA2	1925	1957	8e-15	PFAM
Pfam:BRCA2	2005	2037	1.7e-11	PFAM
Pfam:BRCA-2_helical	2402	2588	1.3e-94	PFAM
Pfam:BRCA-2_OB1	2591	2717	5.3e-44	PFAM
Tower	2752	2793	2.37e-18	SMART
Pfam:BRCA-2_OB3	2971	3104	1.5e-49	PFAM
low complexity region	3197	3208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202975

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,085,541 (GRCm39)	L532Q	probably damaging	Het
Bod1l	A	T	5: 41,974,732 (GRCm39)	V2194D	probably damaging	Het
Cenpf	G	A	1: 189,386,968 (GRCm39)	Q1771*	probably null	Het
Cfap100	C	A	6: 90,392,717 (GRCm39)	R131L	probably benign	Het
Coch	A	T	12: 51,650,082 (GRCm39)	Q357L	probably benign	Het
Col14a1	A	G	15: 55,282,210 (GRCm39)	T824A	unknown	Het
Dnah9	T	C	11: 66,009,655 (GRCm39)	Y744C	probably damaging	Het
Dusp13b	A	G	14: 21,783,907 (GRCm39)	V201A	probably damaging	Het
Egf	T	A	3: 129,530,415 (GRCm39)	H249L	probably benign	Het
Elmod1	G	A	9: 53,838,764 (GRCm39)	P132L	probably benign	Het
Eps8l2	T	C	7: 140,938,143 (GRCm39)	V459A	probably benign	Het
Fbn1	T	C	2: 125,192,207 (GRCm39)	D1434G	probably damaging	Het
Fbn1	G	A	2: 125,143,645 (GRCm39)	T2828I	probably benign	Het
Gbp9	C	T	5: 105,242,039 (GRCm39)	D173N	probably damaging	Het
Gbp9	T	C	5: 105,232,884 (GRCm39)	D256G	probably damaging	Het
Gpsm1	G	A	2: 26,236,921 (GRCm39)	A580T	probably damaging	Het
Hnrnpf	T	C	6: 117,884,094 (GRCm39)		probably benign	Het
Krt33a	T	C	11: 99,902,843 (GRCm39)	E327G	probably benign	Het
M1ap	T	A	6: 82,982,565 (GRCm39)	I283K	probably benign	Het
Mars2	A	G	1: 55,277,155 (GRCm39)	S253G	probably damaging	Het
Myh6	A	T	14: 55,182,000 (GRCm39)	M1767K	probably damaging	Het
Myo3a	T	A	2: 22,245,926 (GRCm39)	D16E	probably damaging	Het
Pitrm1	T	A	13: 6,629,471 (GRCm39)	Y978N	probably benign	Het
Plekha6	G	T	1: 133,200,152 (GRCm39)	E66*	probably null	Het
Polk	C	T	13: 96,641,030 (GRCm39)	V176M	probably damaging	Het
Pom121	G	T	5: 135,410,463 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,332,133 (GRCm39)	D2447E	probably damaging	Het
Sall3	T	C	18: 81,013,047 (GRCm39)	M1130V	possibly damaging	Het
Scn3a	A	G	2: 65,352,127 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,797,504 (GRCm39)	M241K	probably benign	Het
Septin4	G	A	11: 87,459,075 (GRCm39)	S483N	probably benign	Het
Ssh2	T	G	11: 77,316,156 (GRCm39)	L259R	probably damaging	Het
Tnr	G	T	1: 159,695,813 (GRCm39)	G579W	probably damaging	Het
Vmn1r85	G	T	7: 12,818,496 (GRCm39)	A216D	probably damaging	Het
Vmn2r83	C	A	10: 79,304,894 (GRCm39)	H35N	probably benign	Het

Other mutations in Zar1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02626:Zar1l	APN	5	150,441,210 (GRCm39)	missense	probably damaging	0.98
R0691:Zar1l	UTSW	5	150,436,407 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-02-04