Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Astl'

539062

Institutional Source

Beutler Lab

Gene Symbol

Astl

Ensembl Gene

ENSMUSG00000050468

Gene Name

astacin like metalloendopeptidase

Synonyms

C87576, Ovastacin, Sas1b

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6912 (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 127198306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 286 (I286T)

Ref Sequence

ENSEMBL: ENSMUSP00000135987 (fasta)

Gene Model

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

AlphaFold

Q6HA09

Predicted Effect

probably benign
Transcript: ENSMUST00000059839
AA Change: I286T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: I286T

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: I307T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: I307T

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: ENSMUST00000179618
AA Change: I286T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: I286T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,150,571 (GRCm39)	T67I	possibly damaging	Het
Abca5	A	T	11: 110,197,106 (GRCm39)	M524K	probably benign	Het
Aco2	G	A	15: 81,779,597 (GRCm39)	V134I	probably benign	Het
Acsf2	C	T	11: 94,461,206 (GRCm39)	M323I	probably benign	Het
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Armc5	G	A	7: 127,839,597 (GRCm39)	C305Y	probably damaging	Het
Atp8a2	G	A	14: 60,249,859 (GRCm39)	S544L	probably benign	Het
Bbs7	G	T	3: 36,659,853 (GRCm39)	A194E	probably benign	Het
Brca2	A	G	5: 150,465,207 (GRCm39)	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,219,616 (GRCm39)	S1283L	probably benign	Het
Creld2	T	C	15: 88,704,200 (GRCm39)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,850,961 (GRCm39)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,675,320 (GRCm39)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,183,108 (GRCm39)	M487V	probably benign	Het
Dnah12	T	C	14: 26,600,036 (GRCm39)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,577,748 (GRCm39)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,698,221 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,003 (GRCm39)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,594,011 (GRCm39)	I720F	probably benign	Het
Fam83b	T	A	9: 76,398,214 (GRCm39)	E963V	probably damaging	Het
Fat1	T	A	8: 45,504,060 (GRCm39)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,617,148 (GRCm39)	K118*	probably null	Het
Fcgbp	A	T	7: 27,789,129 (GRCm39)	Y565F	probably benign	Het
Garre1	A	G	7: 33,945,093 (GRCm39)	S384P	probably benign	Het
Gm128	A	T	3: 95,147,740 (GRCm39)	S185T	probably benign	Het
Gm6309	C	T	5: 146,105,640 (GRCm39)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	T	C	14: 33,916,597 (GRCm39)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,447,221 (GRCm39)	L72P	probably damaging	Het
Il31ra	T	A	13: 112,685,998 (GRCm39)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,372,529 (GRCm39)	A939T	probably benign	Het
Kif16b	A	G	2: 142,542,019 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,490,194 (GRCm39)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,348,369 (GRCm39)	R2775S	unknown	Het
Luc7l3	C	T	11: 94,200,462 (GRCm39)	R52H	probably damaging	Het
Mapk15	A	T	15: 75,865,747 (GRCm39)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,552,889 (GRCm39)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,920,611 (GRCm39)	Q69*	probably null	Het
Mlph	A	T	1: 90,873,342 (GRCm39)	D551V	probably damaging	Het
Mup5	A	T	4: 61,752,806 (GRCm39)	F72L	probably benign	Het
Narf	T	C	11: 121,129,287 (GRCm39)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,390,202 (GRCm39)	I384V	probably benign	Het
Neo1	T	C	9: 58,824,335 (GRCm39)	T698A	probably benign	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Nrros	T	C	16: 31,981,057 (GRCm39)	R24G	probably null	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or6b1	T	C	6: 42,815,736 (GRCm39)	V307A	probably benign	Het
Pde9a	T	C	17: 31,685,386 (GRCm39)	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 71,961,222 (GRCm39)	D315G	probably benign	Het
Plaat5	A	G	19: 7,616,830 (GRCm39)		probably benign	Het
Plekha6	C	T	1: 133,200,273 (GRCm39)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,059,684 (GRCm39)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,711 (GRCm39)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 36,240,453 (GRCm39)	V581A	possibly damaging	Het
Prr12	A	G	7: 44,698,269 (GRCm39)		probably benign	Het
Rfx6	T	C	10: 51,599,949 (GRCm39)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Saxo2	A	G	7: 82,284,402 (GRCm39)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,793,946 (GRCm39)	D86G	probably benign	Het
Shroom3	A	T	5: 93,090,876 (GRCm39)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,444,543 (GRCm39)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,793,118 (GRCm39)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm39)	G108V	probably damaging	Het
Tbck	T	C	3: 132,392,703 (GRCm39)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,527,601 (GRCm39)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,440,719 (GRCm39)	D245G	probably benign	Het
Trim68	A	T	7: 102,333,675 (GRCm39)	D2E	probably damaging	Het
Trps1	T	A	15: 50,685,694 (GRCm39)	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Ubap2l	A	T	3: 89,946,155 (GRCm39)	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,389,352 (GRCm39)	R105W	probably damaging	Het
Ubr4	G	A	4: 139,185,545 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,666,871 (GRCm39)	L25P	probably benign	Het
Usp38	A	G	8: 81,719,958 (GRCm39)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,416,374 (GRCm39)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,457,599 (GRCm39)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 19,047,464 (GRCm39)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,099,196 (GRCm39)		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
R7071:Astl	UTSW	2	127,187,885 (GRCm39)	missense	probably benign	0.00
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'- GTTGTACTGGTATGCAGTAGAAATG -3'
(R):5'- GCCCCGATTTTGAAGCATC -3'

Sequencing Primer
(F):5'- TGCCTTAGCACAGACCTTG -3'
(R):5'- CATCGGCTAGCATCTGAGGTG -3'

Posted On

2018-11-06