Mutagenetix > Incidental Mutation

Incidental Mutation 'R7071:Astl'

548893

Institutional Source

Beutler Lab

Gene Symbol

Astl

Ensembl Gene

ENSMUSG00000050468

Gene Name

astacin like metalloendopeptidase

Synonyms

C87576, Ovastacin, Sas1b

MMRRC Submission

045167-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127180559-127199571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127187885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 121 (M121T)

Ref Sequence

ENSEMBL: ENSMUSP00000087102 (fasta)

Gene Model

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

AlphaFold

Q6HA09

Predicted Effect

probably benign
Transcript: ENSMUST00000059839
AA Change: M100T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: M100T

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

probably benign
Transcript: ENSMUST00000089673
AA Change: M121T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: M121T

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: M100T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
AA Change: M100T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179618
AA Change: M100T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: M100T

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (41/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,449,503 (GRCm39)	Q854*	probably null	Het
Arl2bp	G	T	8: 95,393,794 (GRCm39)		probably benign	Het
Atrip	T	C	9: 108,896,082 (GRCm39)		probably null	Het
Camk1g	A	T	1: 193,042,117 (GRCm39)	V44E	probably benign	Het
Cc2d2a	A	G	5: 43,866,455 (GRCm39)	H804R	probably benign	Het
Cd300a	T	C	11: 114,792,099 (GRCm39)	S314P	probably damaging	Het
Ceacam5	A	T	7: 17,484,577 (GRCm39)	I440L	possibly damaging	Het
Cfap61	T	G	2: 145,843,832 (GRCm39)	I306R	probably benign	Het
Cnot10	T	C	9: 114,446,787 (GRCm39)		probably null	Het
Cntln	T	A	4: 85,018,622 (GRCm39)	L76Q	probably damaging	Het
Cobl	A	G	11: 12,204,795 (GRCm39)	C636R	probably benign	Het
Dnm3	A	T	1: 161,847,412 (GRCm39)	H148Q	probably damaging	Het
Dot1l	T	A	10: 80,628,079 (GRCm39)	L1039Q	probably benign	Het
Faiml	T	A	9: 99,118,400 (GRCm39)	M1L	unknown	Het
Fat1	T	G	8: 45,442,145 (GRCm39)	I1149S	possibly damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm11938	A	T	11: 99,493,910 (GRCm39)	C62S	probably damaging	Het
Gtf2i	A	G	5: 134,292,475 (GRCm39)	L423S	probably damaging	Het
Hmcn1	A	T	1: 150,479,853 (GRCm39)	C4582S	probably damaging	Het
Ifitm3	A	G	7: 140,590,437 (GRCm39)	V41A	probably benign	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Khsrp	C	A	17: 57,332,386 (GRCm39)	M268I	possibly damaging	Het
Lrp1b	T	G	2: 41,298,276 (GRCm39)	D1036A		Het
Mecom	T	G	3: 30,034,857 (GRCm39)	H273P	probably damaging	Het
Mfn1	G	A	3: 32,622,544 (GRCm39)	V601I	probably benign	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Myo18a	A	G	11: 77,714,653 (GRCm39)	T811A	probably damaging	Het
Ndfip2	A	C	14: 105,539,760 (GRCm39)	N292H	possibly damaging	Het
Or2ak5	C	A	11: 58,610,984 (GRCm39)	V297F	possibly damaging	Het
Otog	T	A	7: 45,916,747 (GRCm39)	C895S	probably damaging	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pira13	A	G	7: 3,824,667 (GRCm39)	S573P	unknown	Het
Ptprn	A	T	1: 75,237,263 (GRCm39)	M113K	possibly damaging	Het
Rag1	T	C	2: 101,473,807 (GRCm39)	H445R	probably damaging	Het
Ranbp2	T	G	10: 58,328,659 (GRCm39)	F2853V	probably damaging	Het
Skint5	A	T	4: 113,636,277 (GRCm39)	F647Y	unknown	Het
Stt3b	T	C	9: 115,083,085 (GRCm39)	Y449C	probably damaging	Het
Ythdc2	A	G	18: 44,978,855 (GRCm39)	D455G	probably benign	Het
Zfp451	A	C	1: 33,815,825 (GRCm39)	D708E	possibly damaging	Het
Zfp456	T	C	13: 67,520,896 (GRCm39)	E33G	probably damaging	Het
Zfp599	T	C	9: 22,169,392 (GRCm39)	T27A	probably benign	Het

Other mutations in Astl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Astl	APN	2	127,185,941 (GRCm39)	splice site	probably null
IGL01952:Astl	APN	2	127,184,398 (GRCm39)	critical splice donor site	probably null
R0833:Astl	UTSW	2	127,184,339 (GRCm39)	missense	probably benign
R0836:Astl	UTSW	2	127,184,339 (GRCm39)	missense	probably benign
R1351:Astl	UTSW	2	127,189,105 (GRCm39)	missense	possibly damaging	0.95
R1672:Astl	UTSW	2	127,189,163 (GRCm39)	missense	probably damaging	1.00
R1809:Astl	UTSW	2	127,187,405 (GRCm39)	missense	probably damaging	1.00
R2145:Astl	UTSW	2	127,189,109 (GRCm39)	missense	probably damaging	1.00
R5669:Astl	UTSW	2	127,189,199 (GRCm39)	missense	probably damaging	1.00
R6057:Astl	UTSW	2	127,187,889 (GRCm39)	missense	probably benign
R6912:Astl	UTSW	2	127,198,306 (GRCm39)	missense	probably benign	0.09
R7998:Astl	UTSW	2	127,192,419 (GRCm39)	missense	probably damaging	1.00
R8039:Astl	UTSW	2	127,185,903 (GRCm39)	missense	probably damaging	1.00
R8890:Astl	UTSW	2	127,198,479 (GRCm39)	missense	probably benign	0.00
R9789:Astl	UTSW	2	127,192,146 (GRCm39)	missense	probably damaging	1.00
Z1176:Astl	UTSW	2	127,198,465 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GTCTTTTCTGCAGCTCAGGC -3'
(R):5'- AGGCCCAGAAATAAGCTTGG -3'

Sequencing Primer
(F):5'- AGCTCAGGCATCCTCTTCAG -3'
(R):5'- GCCCAGAAATAAGCTTGGATTTGTG -3'

Posted On

2019-05-15