Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Aste1'

449480

Institutional Source

Beutler Lab

Gene Symbol

Aste1

Ensembl Gene

ENSMUSG00000032567

Gene Name

asteroid homolog 1

Synonyms

1100001A21Rik

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105272533-105285497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105280614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 448 (R448S)

Ref Sequence

ENSEMBL: ENSMUSP00000149596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000123807] [ENSMUST00000167674] [ENSMUST00000176350] [ENSMUST00000177293] [ENSMUST00000189758] [ENSMUST00000176770] [ENSMUST00000177074] [ENSMUST00000176940] [ENSMUST00000177402]

AlphaFold

Q8BIR2

Predicted Effect

probably benign
Transcript: ENSMUST00000035181
AA Change: R509S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: R509S

Domain	Start	End	E-Value	Type
Pfam:XPG_I_2	115	307	1e-18	PFAM
low complexity region	476	488	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123807
AA Change: R448S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000123807
AA Change: R448S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137208

Predicted Effect

probably benign
Transcript: ENSMUST00000167674

SMART Domains

Protein: ENSMUSP00000131164
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
low complexity region	108	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176597

Predicted Effect

probably benign
Transcript: ENSMUST00000177293

SMART Domains

Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	1	203	6.7e-64	PFAM
Pfam:Hydrolase	207	519	7.4e-32	PFAM
Pfam:HAD	210	516	1.9e-15	PFAM
Pfam:Hydrolase_like2	272	356	3.8e-20	PFAM
transmembrane domain	564	586	N/A	INTRINSIC
Pfam:Cation_ATPase_C	589	761	1.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189758

SMART Domains

Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176770

SMART Domains

Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	100	334	8.9e-76	PFAM
Pfam:Hydrolase	338	650	1.1e-31	PFAM
Pfam:HAD	341	647	2.7e-15	PFAM
Pfam:Hydrolase_like2	403	487	4.8e-20	PFAM
low complexity region	701	716	N/A	INTRINSIC
Pfam:Cation_ATPase_C	720	892	1.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177074

SMART Domains

Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570

Domain	Start	End	E-Value	Type
Cation_ATPase_N	25	99	1.85e-14	SMART
Pfam:E1-E2_ATPase	105	339	8.2e-76	PFAM
Pfam:Hydrolase	343	655	1e-31	PFAM
Pfam:HAD	346	652	2.5e-15	PFAM
Pfam:Hydrolase_like2	408	492	4.5e-20	PFAM
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cation_ATPase_C	725	886	7e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216711

Predicted Effect

probably benign
Transcript: ENSMUST00000176940

Predicted Effect

probably benign
Transcript: ENSMUST00000177402

SMART Domains

Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted(4) Gene trapped(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,227,974 (GRCm39)		probably null	Het
Adamts20	A	C	15: 94,251,465 (GRCm39)	S441A	probably damaging	Het
Aen	T	A	7: 78,557,049 (GRCm39)	M299K	probably damaging	Het
Akap3	T	C	6: 126,842,796 (GRCm39)	S472P	probably benign	Het
Ank3	T	G	10: 69,658,087 (GRCm39)	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,622,955 (GRCm39)	D324G	probably benign	Het
Atp10a	T	A	7: 58,308,366 (GRCm39)	L55Q	probably benign	Het
C1qtnf9	G	A	14: 61,016,899 (GRCm39)	G143D	probably damaging	Het
Camsap2	A	G	1: 136,208,126 (GRCm39)	V1122A	probably benign	Het
Cbl	T	C	9: 44,145,076 (GRCm39)	H37R	probably damaging	Het
Cfap61	A	C	2: 145,971,069 (GRCm39)	D893A	probably benign	Het
Chd2	T	A	7: 73,128,463 (GRCm39)	I841F	probably damaging	Het
Chd9	A	G	8: 91,723,792 (GRCm39)	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,896,391 (GRCm39)	Y1028H	probably benign	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,030,511 (GRCm39)	I448V	probably benign	Het
Cyth1	T	A	11: 118,083,289 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 39,007,037 (GRCm39)	R324*	probably null	Het
Dhx37	C	A	5: 125,502,794 (GRCm39)	R42L	probably damaging	Het
Dock1	T	A	7: 134,365,662 (GRCm39)	V450E	probably damaging	Het
Ednrb	A	G	14: 104,058,313 (GRCm39)	L330P	probably damaging	Het
Eml4	T	A	17: 83,785,170 (GRCm39)	H778Q	probably damaging	Het
Evx1	T	A	6: 52,292,975 (GRCm39)	I227N	probably damaging	Het
G3bp1	T	A	11: 55,388,766 (GRCm39)	V326E	probably benign	Het
Gata2	T	C	6: 88,177,729 (GRCm39)	V253A	probably benign	Het
Gbp2	A	G	3: 142,339,138 (GRCm39)	N397D	probably damaging	Het
Gm14401	C	A	2: 176,778,696 (GRCm39)	H261N	probably benign	Het
Hacd4	A	T	4: 88,316,389 (GRCm39)	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,760,255 (GRCm39)	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ift27	A	T	15: 78,049,443 (GRCm39)	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Irs3	T	A	5: 137,642,821 (GRCm39)	S206C	probably damaging	Het
Lefty2	C	T	1: 180,720,716 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,590,921 (GRCm39)	I162V	probably damaging	Het
Matcap1	G	A	8: 106,008,755 (GRCm39)	Q421*	probably null	Het
Mefv	A	C	16: 3,533,910 (GRCm39)	D120E	probably damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mre11a	A	G	9: 14,710,953 (GRCm39)	I45V	probably benign	Het
Mtor	A	G	4: 148,620,993 (GRCm39)	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,460,144 (GRCm39)	M393R	probably benign	Het
Nod2	T	C	8: 89,391,267 (GRCm39)	S510P	possibly damaging	Het
Nos2	C	T	11: 78,819,405 (GRCm39)	T39I	probably benign	Het
Or2h1b	A	T	17: 37,462,690 (GRCm39)	Y58N	probably damaging	Het
Or5p54	T	A	7: 107,554,113 (GRCm39)	H88Q	probably benign	Het
Pcdh7	A	G	5: 57,878,970 (GRCm39)	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Plaa	A	C	4: 94,471,706 (GRCm39)	V10G	probably damaging	Het
Pprc1	T	A	19: 46,053,659 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,402,189 (GRCm39)	Y994C	probably damaging	Het
Ripply2	T	A	9: 86,897,943 (GRCm39)	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,395,839 (GRCm39)	D1227G	probably damaging	Het
Scoc	C	T	8: 84,164,260 (GRCm39)	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,745,099 (GRCm39)	I732N	probably damaging	Het
Six2	T	C	17: 85,995,092 (GRCm39)	K97E	probably damaging	Het
Slit2	A	C	5: 48,416,989 (GRCm39)	N1014H	probably damaging	Het
Smc1b	A	C	15: 84,973,866 (GRCm39)	L930R	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Spata31	C	T	13: 65,070,480 (GRCm39)	S876L	probably benign	Het
Spen	A	G	4: 141,199,154 (GRCm39)	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,012,363 (GRCm39)		probably null	Het
Stk3	G	A	15: 34,959,164 (GRCm39)	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,876 (GRCm39)	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,454,169 (GRCm39)	M212T	probably damaging	Het
Trpc7	A	G	13: 56,923,971 (GRCm39)	L738P	probably damaging	Het
Ttll8	A	G	15: 88,801,449 (GRCm39)	V413A	possibly damaging	Het
Usb1	G	A	8: 96,060,161 (GRCm39)		probably benign	Het
Vmn1r238	T	C	18: 3,123,168 (GRCm39)	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,529,599 (GRCm39)	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 41,765,932 (GRCm39)	P13H	probably benign	Het
Wdr26	A	G	1: 181,030,712 (GRCm39)	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,310,787 (GRCm39)	Q636*	probably null	Het
Zfyve26	A	G	12: 79,313,311 (GRCm39)	Y25H	probably benign	Het

Other mutations in Aste1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Aste1	APN	9	105,275,043 (GRCm39)	missense	probably damaging	0.99
IGL03161:Aste1	APN	9	105,273,871 (GRCm39)	missense	probably damaging	1.00
R0022:Aste1	UTSW	9	105,273,823 (GRCm39)	nonsense	probably null
R0022:Aste1	UTSW	9	105,273,823 (GRCm39)	nonsense	probably null
R1485:Aste1	UTSW	9	105,275,009 (GRCm39)	nonsense	probably null
R2010:Aste1	UTSW	9	105,280,701 (GRCm39)	missense	probably damaging	1.00
R5048:Aste1	UTSW	9	105,274,188 (GRCm39)	missense	probably damaging	1.00
R5084:Aste1	UTSW	9	105,274,886 (GRCm39)	nonsense	probably null
R5091:Aste1	UTSW	9	105,282,203 (GRCm39)	missense	probably damaging	1.00
R5197:Aste1	UTSW	9	105,282,253 (GRCm39)	missense	probably damaging	1.00
R5294:Aste1	UTSW	9	105,279,904 (GRCm39)	splice site	probably null
R5617:Aste1	UTSW	9	105,275,034 (GRCm39)	missense	probably benign	0.00
R6214:Aste1	UTSW	9	105,274,056 (GRCm39)	missense	probably damaging	0.96
R6215:Aste1	UTSW	9	105,274,056 (GRCm39)	missense	probably damaging	0.96
R6249:Aste1	UTSW	9	105,273,816 (GRCm39)	missense	probably benign	0.00
R6913:Aste1	UTSW	9	105,274,607 (GRCm39)	missense	probably benign	0.01
R7069:Aste1	UTSW	9	105,273,906 (GRCm39)	critical splice donor site	probably null
R7155:Aste1	UTSW	9	105,282,335 (GRCm39)	missense	probably damaging	1.00
R7360:Aste1	UTSW	9	105,274,835 (GRCm39)	missense	probably damaging	0.97
R7488:Aste1	UTSW	9	105,279,904 (GRCm39)	splice site	probably null
R7588:Aste1	UTSW	9	105,274,590 (GRCm39)	missense	possibly damaging	0.73
R7734:Aste1	UTSW	9	105,274,678 (GRCm39)	missense	probably damaging	0.99
R8358:Aste1	UTSW	9	105,274,255 (GRCm39)	missense	probably damaging	1.00
R8480:Aste1	UTSW	9	105,274,995 (GRCm39)	missense	probably damaging	0.97
R8480:Aste1	UTSW	9	105,274,189 (GRCm39)	missense	possibly damaging	0.92
R8481:Aste1	UTSW	9	105,274,189 (GRCm39)	missense	possibly damaging	0.92
R8767:Aste1	UTSW	9	105,274,098 (GRCm39)	missense	possibly damaging	0.56
R8915:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00
R8945:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00
R9128:Aste1	UTSW	9	105,273,908 (GRCm39)	nonsense	probably null
R9213:Aste1	UTSW	9	105,274,294 (GRCm39)	missense	probably damaging	1.00
R9375:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00
R9377:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00
R9501:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00
R9502:Aste1	UTSW	9	105,273,880 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGACCCTTCAGTGTATATAAGAC -3'
(R):5'- CACATGGTGCTTACCAAGTTAGG -3'

Sequencing Primer
(F):5'- GAGAAAAGCAACCAGTTTTCAAAC -3'
(R):5'- CCAAGTTAGGTTTGGCTCTGGC -3'

Posted On

2016-12-20