Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Aste1'

657483

Institutional Source

Beutler Lab

Gene Symbol

Aste1

Ensembl Gene

ENSMUSG00000032567

Gene Name

asteroid homolog 1

Synonyms

1100001A21Rik

MMRRC Submission

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105395392-105412229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105397796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 351 (T351S)

Ref Sequence

ENSEMBL: ENSMUSP00000149596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000038648] [ENSMUST00000123807] [ENSMUST00000140851] [ENSMUST00000156256] [ENSMUST00000167674] [ENSMUST00000176350] [ENSMUST00000176940] [ENSMUST00000177029] [ENSMUST00000177402] [ENSMUST00000189758]

AlphaFold

Q8BIR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035181
AA Change: T412S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: T412S

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: ENSMUST00000038648

SMART Domains

Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032

Domain	Start	End	E-Value	Type
S_TKc	30	288	3.87e-80	SMART
coiled coil region	348	384	N/A	INTRINSIC
low complexity region	408	423	N/A	INTRINSIC
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123807
AA Change: T351S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000123807
AA Change: T351S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000140851

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032

Domain	Start	End	E-Value	Type
S_TKc	30	288	3.87e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156256

SMART Domains

Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032

Domain	Start	End	E-Value	Type
Pfam:Pkinase	30	177	8.9e-36	PFAM
Pfam:Pkinase_Tyr	30	178	8.9e-26	PFAM

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

probably benign
Transcript: ENSMUST00000176940

Predicted Effect

probably benign
Transcript: ENSMUST00000177029

SMART Domains

Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032

Domain	Start	End	E-Value	Type
SCOP:d1h8fa_	11	80	1e-6	SMART
Blast:S_TKc	30	70	1e-11	BLAST

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	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
R7155:Aste1	UTSW	9	105405136	missense	probably damaging	1.00
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
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'- CATCAGTGATGCTTTGGTGCTC -3'
(R):5'- AGTTCACTGGAGGTCTAGCC -3'

Sequencing Primer
(F):5'- GGACCTTTCTTCACACACAGGTAG -3'
(R):5'- GGTCTAGCCTTCACACACAACATG -3'

Posted On

2021-01-18