Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Aste1'

557229

Institutional Source

Beutler Lab

Gene Symbol

Aste1

Ensembl Gene

ENSMUSG00000032567

Gene Name

asteroid homolog 1

Synonyms

1100001A21Rik

MMRRC Submission

045226-MU

Accession Numbers

Ncbi RefSeq: NM_025651.4, NM_001164828.1; MGI:1913845

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105395392-105412229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105405136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 614 (P614L)

Ref Sequence

ENSEMBL: ENSMUSP00000035181 (fasta)

Gene Model

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

AlphaFold

Q8BIR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035181
AA Change: P614L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: P614L

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 damaging
Transcript: ENSMUST00000123807
AA Change: P553L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000123807
AA Change: P553L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000167674
AA Change: P101L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131164
Gene: ENSMUSG00000032567
AA Change: P101L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176350

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: ENSMUST00000176940

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

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: ENSMUST00000177402

SMART Domains

Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	Het

Other mutations in Aste1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Aste1	APN	9	105397844	missense	probably damaging	0.99
IGL03161:Aste1	APN	9	105396672	missense	probably damaging	1.00
R0022:Aste1	UTSW	9	105396624	nonsense	probably null
R0022:Aste1	UTSW	9	105396624	nonsense	probably null
R1485:Aste1	UTSW	9	105397810	nonsense	probably null
R2010:Aste1	UTSW	9	105403502	missense	probably damaging	1.00
R5048:Aste1	UTSW	9	105396989	missense	probably damaging	1.00
R5084:Aste1	UTSW	9	105397687	nonsense	probably null
R5091:Aste1	UTSW	9	105405004	missense	probably damaging	1.00
R5197:Aste1	UTSW	9	105405054	missense	probably damaging	1.00
R5294:Aste1	UTSW	9	105402705	splice site	probably null
R5617:Aste1	UTSW	9	105397835	missense	probably benign	0.00
R5834:Aste1	UTSW	9	105403415	missense	probably benign	0.01
R6214:Aste1	UTSW	9	105396857	missense	probably damaging	0.96
R6215:Aste1	UTSW	9	105396857	missense	probably damaging	0.96
R6249:Aste1	UTSW	9	105396617	missense	probably benign	0.00
R6913:Aste1	UTSW	9	105397408	missense	probably benign	0.01
R7069:Aste1	UTSW	9	105396707	critical splice donor site	probably null
R7360:Aste1	UTSW	9	105397636	missense	probably damaging	0.97
R7488:Aste1	UTSW	9	105402705	splice site	probably null
R7588:Aste1	UTSW	9	105397391	missense	possibly damaging	0.73
R7734:Aste1	UTSW	9	105397479	missense	probably damaging	0.99
R8358:Aste1	UTSW	9	105397056	missense	probably damaging	1.00
R8480:Aste1	UTSW	9	105396990	missense	possibly damaging	0.92
R8480:Aste1	UTSW	9	105397796	missense	probably damaging	0.97
R8481:Aste1	UTSW	9	105396990	missense	possibly damaging	0.92
R8767:Aste1	UTSW	9	105396899	missense	possibly damaging	0.56
R8915:Aste1	UTSW	9	105396681	missense	probably benign	0.00
R8945:Aste1	UTSW	9	105396681	missense	probably benign	0.00
R9128:Aste1	UTSW	9	105396709	nonsense	probably null
R9213:Aste1	UTSW	9	105397095	missense	probably damaging	1.00
R9375:Aste1	UTSW	9	105396681	missense	probably benign	0.00
R9377:Aste1	UTSW	9	105396681	missense	probably benign	0.00
R9501:Aste1	UTSW	9	105396681	missense	probably benign	0.00
R9502:Aste1	UTSW	9	105396681	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGATTGTTACAGTGTTCCCC -3'
(R):5'- GACTGTTTATTCAAGCTCTGAGTTCTC -3'

Sequencing Primer
(F):5'- GTCCCACTACACCCATTTGATG -3'
(R):5'- AAGCTCTGAGTTCTCTACATGC -3'

Posted On

2019-06-26