Mutagenetix > Incidental Mutations

Incidental Mutation 'R1351:Astl'

156636

Institutional Source

Beutler Lab

Gene Symbol

Astl

Ensembl Gene

ENSMUSG00000050468

Gene Name

astacin-like metalloendopeptidase (M12 family)

Synonyms

Sas1b, C87576, Ovastacin

MMRRC Submission

039416-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127338639-127357651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127347185 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 144 (V144M)

Ref Sequence

ENSEMBL: ENSMUSP00000135987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059839
AA Change: V144M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: V144M

Domain	Start	End	E-Value	Type
Blast:ZnMc	31	60	4e-8	BLAST
ZnMc	69	213	1.13e-39	SMART
low complexity region	292	308	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089673
AA Change: V165M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: V165M

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Blast:ZnMc	52	81	5e-8	BLAST
ZnMc	90	234	1.13e-39	SMART
low complexity region	313	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156747
AA Change: V144M

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
AA Change: V144M

Domain	Start	End	E-Value	Type
Blast:ZnMc	31	60	6e-9	BLAST
ZnMc	69	193	4.02e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179618
AA Change: V144M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: V144M

Domain	Start	End	E-Value	Type
Blast:ZnMc	31	60	4e-8	BLAST
ZnMc	69	213	1.13e-39	SMART
low complexity region	292	308	N/A	INTRINSIC

Meta Mutation Damage Score

0.1234

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for knock-out alleles exhibit reduced female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,380,841	E444G	probably damaging	Het
AW146154	A	T	7: 41,480,454	C413S	probably damaging	Het
Bicdl2	G	A	17: 23,667,545		probably benign	Het
Cacna1h	G	T	17: 25,391,951	S624R	probably benign	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cep126	C	T	9: 8,100,086	E816K	probably damaging	Het
Cyp2j13	T	C	4: 96,056,918	K291R	probably benign	Het
Defb26	A	T	2: 152,507,817	M181K	unknown	Het
Dicer1	G	A	12: 104,729,142	R177C	probably damaging	Het
Eif4g2	A	G	7: 111,074,080	Y831H	probably damaging	Het
Ermap	C	T	4: 119,181,361		probably null	Het
Fcamr	C	T	1: 130,813,020	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,840,780		probably benign	Het
Gpr162	T	C	6: 124,861,198	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,116,232	R226G	possibly damaging	Het
Hapln3	A	C	7: 79,121,960	S60R	probably damaging	Het
Hif1a	T	C	12: 73,940,461	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,882,624	M425T	probably benign	Het
Lrrc39	G	T	3: 116,565,820	A5S	possibly damaging	Het
Mbtps1	A	G	8: 119,518,162	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120	M679K	possibly damaging	Het
Mocos	T	C	18: 24,660,050	F68S	probably damaging	Het
Nuf2	T	C	1: 169,510,549		probably benign	Het
Olfr639	A	G	7: 104,012,316	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,595,367	D146E	probably benign	Het
Papd5	C	A	8: 88,200,374	Y137*	probably null	Het
Pcdhb22	T	C	18: 37,518,574	F32L	probably benign	Het
Pde4d	G	T	13: 109,951,275	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,207,800	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,577,146		probably benign	Het
Pou3f2	A	T	4: 22,487,162	C324S	probably damaging	Het
Prkdc	C	T	16: 15,667,700	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,157,887	H749R	possibly damaging	Het
Rad18	T	C	6: 112,620,902	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,596,643	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,111,555	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,056,637	H386R	possibly damaging	Het
Sacs	T	C	14: 61,202,761	V752A	probably benign	Het
Sema3c	A	G	5: 17,678,336	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,233,333	R406C	probably damaging	Het
Tacc2	C	T	7: 130,663,003		probably benign	Het
Trpc4	A	G	3: 54,195,002	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,565,054	S297P	probably damaging	Het
Xdh	A	G	17: 73,923,078	I286T	probably benign	Het
Zfp608	T	C	18: 54,898,391	T826A	probably benign	Het
Zfp646	T	A	7: 127,883,511	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,232,205	D217A	probably damaging	Het
Zmym6	G	A	4: 127,123,005	G768R	probably benign	Het

Other mutations in Astl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Astl	APN	2	127344021	splice site	probably null
IGL01952:Astl	APN	2	127342478	critical splice donor site	probably null
R0833:Astl	UTSW	2	127342419	missense	probably benign
R0836:Astl	UTSW	2	127342419	missense	probably benign
R1672:Astl	UTSW	2	127347243	missense	probably damaging	1.00
R1809:Astl	UTSW	2	127345485	missense	probably damaging	1.00
R2145:Astl	UTSW	2	127347189	missense	probably damaging	1.00
R5669:Astl	UTSW	2	127347279	missense	probably damaging	1.00
R6057:Astl	UTSW	2	127345969	missense	probably benign
R6912:Astl	UTSW	2	127356386	missense	probably benign	0.09
R7071:Astl	UTSW	2	127345965	missense	probably benign	0.00
R7998:Astl	UTSW	2	127350499	missense	probably damaging	1.00
R8039:Astl	UTSW	2	127343983	missense	probably damaging	1.00
Z1176:Astl	UTSW	2	127356545	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CAAGCAGTGTCTGTCCTGATGTCC -3'
(R):5'- TGAACTCTTCAAGGGGAGGTGAGC -3'

Sequencing Primer
(F):5'- gaacccaagactaccagcc -3'
(R):5'- GAGGTGAGCCAACTCCTCAAC -3'

Posted On

2014-02-11