Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Astl'

77881

Institutional Source

Beutler Lab

Gene Symbol

Astl

Ensembl Gene

ENSMUSG00000050468

Gene Name

astacin-like metalloendopeptidase (M12 family)

Synonyms

Sas1b, C87576, Ovastacin

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127338639-127357651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127342419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 21 (F21L)

Ref Sequence

ENSEMBL: ENSMUSP00000135987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028846] [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]

AlphaFold

Q6HA09

Predicted Effect

probably benign
Transcript: ENSMUST00000028846

SMART Domains

Protein: ENSMUSP00000028846
Gene: ENSMUSG00000027368

Domain	Start	End	E-Value	Type
RHOD	17	145	6.72e-10	SMART
DSPc	176	314	1.49e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059839
AA Change: F21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: F21L

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: F42L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: F42L

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

noncoding transcript
Transcript: ENSMUST00000146479

Predicted Effect

probably benign
Transcript: ENSMUST00000156747
AA Change: F21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
AA Change: F21L

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: F21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: F21L

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

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,350,255	G7D	probably benign	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Asphd2	A	T	5: 112,391,769	L66H	probably damaging	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,776		probably benign	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Cfap43	C	A	19: 47,815,846	V304L	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Cpa5	T	C	6: 30,623,211	S124P	probably damaging	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,999	H278R	probably benign	Het
Fhod3	T	A	18: 25,066,218	Y649N	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itga2	A	G	13: 114,856,679	V800A	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Kcnd2	T	C	6: 21,726,239		probably benign	Het
Kcnd2	T	A	6: 21,727,329	V627E	probably damaging	Het
Ktn1	A	G	14: 47,701,062		probably null	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Macf1	A	G	4: 123,494,882		probably null	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Nfkbia	C	A	12: 55,490,776	A211S	probably damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Pmch	A	G	10: 88,091,224	I30V	probably benign	Het
Ppat	A	C	5: 76,922,501	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rbp3	T	G	14: 33,956,638	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc34a2	A	G	5: 53,067,707	T397A	probably benign	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Sorcs3	G	A	19: 48,487,394	V231I	probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,741,940		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Thbs4	T	G	13: 92,758,038	D659A	probably damaging	Het
Tmed11	A	T	5: 108,795,309	M1K	probably null	Het
Tmpo	A	T	10: 91,161,953	C657*	probably null	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,427,956	H231L	possibly damaging	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	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
R1351:Astl	UTSW	2	127347185	missense	possibly damaging	0.95
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
R8890:Astl	UTSW	2	127356559	missense	probably benign	0.00
R9789:Astl	UTSW	2	127350226	missense	probably damaging	1.00
Z1176:Astl	UTSW	2	127356545	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- ATAGCCAGGCAGGCTTCAGGAATG -3'
(R):5'- CGCTTACACACCGCTACTTACAGAG -3'

Sequencing Primer
(F):5'- AGGCTTCAGGAATGCATCC -3'
(R):5'- ACCGCTACTTACAGAGAGATTG -3'

Posted On

2013-10-16