Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Asb1'

486719

Institutional Source

Beutler Lab

Gene Symbol

Asb1

Ensembl Gene

ENSMUSG00000026311

Gene Name

ankyrin repeat and SOCS box-containing 1

Synonyms

1700029O08Rik, 1700054C17Rik

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91468266-91487311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91474748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 90 (L90P)

Ref Sequence

ENSEMBL: ENSMUSP00000140731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]

AlphaFold

Q9WV74

Predicted Effect

probably benign
Transcript: ENSMUST00000027538

SMART Domains

Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
ANK	37	69	2.43e1	SMART
ANK	78	107	7.48e0	SMART
ANK	111	140	3.01e-4	SMART
ANK	144	173	9.78e-4	SMART
ANK	196	221	2.25e2	SMART
Blast:ANK	235	266	2e-11	BLAST
SOCS_box	297	336	6.36e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086843
AA Change: L98P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: L98P

Domain	Start	End	E-Value	Type
ANK	29	61	2.43e1	SMART
ANK	70	99	7.48e0	SMART
ANK	103	132	3.01e-4	SMART
ANK	136	165	9.78e-4	SMART
ANK	188	213	2.25e2	SMART
Blast:ANK	227	258	2e-11	BLAST
SOCS_box	289	328	6.36e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185718

Predicted Effect

probably benign
Transcript: ENSMUST00000186068

SMART Domains

Protein: ENSMUSP00000140225
Gene: ENSMUSG00000026311

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Blast:ANK	37	70	1e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000188081
AA Change: L90P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: L90P

Domain	Start	End	E-Value	Type
ANK	29	61	1.5e-1	SMART
ANK	70	99	4.7e-2	SMART
ANK	103	132	1.9e-6	SMART
ANK	136	165	6.3e-6	SMART
ANK	188	213	1.4e0	SMART
Blast:ANK	227	258	1e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000188879
AA Change: L90P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: L90P

Domain	Start	End	E-Value	Type
ANK	29	61	2.43e1	SMART
ANK	70	99	7.48e0	SMART
ANK	103	132	3.01e-4	SMART
ANK	136	165	9.78e-4	SMART
ANK	188	213	2.25e2	SMART
Blast:ANK	227	258	2e-11	BLAST
SOCS_box	289	328	6.36e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190484

SMART Domains

Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
ANK	37	72	1.17e2	SMART
ANK	95	120	2.25e2	SMART
Blast:ANK	134	165	3e-12	BLAST
Pfam:SOCS_box	196	218	2.2e-6	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,885,527 (GRCm39)	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,713,859 (GRCm39)	D181E	probably benign	Het
Arhgap24	T	C	5: 103,028,652 (GRCm39)	S183P	probably damaging	Het
Bmp3	T	C	5: 99,020,209 (GRCm39)	F211L	probably benign	Het
C8a	A	G	4: 104,703,139 (GRCm39)	I306T	probably benign	Het
Cdkn3	G	A	14: 47,007,373 (GRCm39)	G177R	probably damaging	Het
Chat	A	G	14: 32,170,984 (GRCm39)	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,438,078 (GRCm39)		probably benign	Het
Cyp4a12a	T	C	4: 115,184,420 (GRCm39)	I265T	probably damaging	Het
Dlst	T	A	12: 85,165,664 (GRCm39)		probably null	Het
Dnmt1	A	T	9: 20,837,716 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,205,800 (GRCm39)	E1066K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fstl1	T	A	16: 37,641,538 (GRCm39)	S105T	probably benign	Het
Gm19410	C	G	8: 36,276,518 (GRCm39)	A1725G	probably benign	Het
Hspb7	A	G	4: 141,151,215 (GRCm39)	N119S	probably damaging	Het
Il20	T	A	1: 130,838,478 (GRCm39)	D73V	possibly damaging	Het
Insrr	T	C	3: 87,716,608 (GRCm39)	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,359,105 (GRCm39)	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615 (GRCm39)		probably null	Het
Krt77	C	A	15: 101,769,351 (GRCm39)	R470L	possibly damaging	Het
Muc1	T	C	3: 89,139,336 (GRCm39)	Y579H	probably damaging	Het
Myof	T	C	19: 37,966,132 (GRCm39)	D396G	probably damaging	Het
Myom1	T	G	17: 71,417,746 (GRCm39)	D1316E	probably damaging	Het
Nbea	T	C	3: 55,912,538 (GRCm39)	E1083G	probably benign	Het
Nek9	G	A	12: 85,359,859 (GRCm39)	A531V	probably benign	Het
Nlrp12	A	T	7: 3,290,002 (GRCm39)	I170N	possibly damaging	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Paqr4	T	C	17: 23,958,968 (GRCm39)	D11G	probably damaging	Het
Parp8	A	G	13: 117,014,134 (GRCm39)	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,420,306 (GRCm39)	F179L	probably damaging	Het
Pde4d	A	T	13: 110,084,876 (GRCm39)	Q422L	probably damaging	Het
Pigs	T	A	11: 78,232,651 (GRCm39)	V495E	probably damaging	Het
Polh	C	T	17: 46,498,959 (GRCm39)	R252H	probably benign	Het
Psg28	T	C	7: 18,160,107 (GRCm39)	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,640,815 (GRCm39)	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,072,668 (GRCm39)		probably null	Het
Rax	C	T	18: 66,068,418 (GRCm39)	G229D	unknown	Het
Secisbp2l	T	A	2: 125,615,136 (GRCm39)	H163L	probably benign	Het
Sf3a2	A	G	10: 80,637,297 (GRCm39)	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,055,775 (GRCm39)	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,806,231 (GRCm39)	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,722,436 (GRCm39)	I90V	probably benign	Het
Slx4	G	A	16: 3,803,911 (GRCm39)	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,599,611 (GRCm39)	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,655,866 (GRCm39)	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,878,729 (GRCm39)	H45Q	probably damaging	Het
Ttn	C	T	2: 76,714,762 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,051,217 (GRCm39)	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,607,526 (GRCm39)		probably null	Het
Wdr6	CTG	C	9: 108,450,994 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,291 (GRCm39)	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,274,529 (GRCm39)	Q364*	probably null	Het

Other mutations in Asb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Asb1	APN	1	91,479,846 (GRCm39)	missense	probably damaging	0.99
IGL01748:Asb1	APN	1	91,480,008 (GRCm39)	missense	probably damaging	1.00
IGL02670:Asb1	APN	1	91,474,640 (GRCm39)	intron	probably benign
R1897:Asb1	UTSW	1	91,474,647 (GRCm39)	splice site	probably null
R2113:Asb1	UTSW	1	91,471,950 (GRCm39)	missense	probably damaging	1.00
R4803:Asb1	UTSW	1	91,480,051 (GRCm39)	missense	probably damaging	1.00
R5086:Asb1	UTSW	1	91,482,533 (GRCm39)	missense	probably benign	0.00
R5103:Asb1	UTSW	1	91,480,066 (GRCm39)	missense	possibly damaging	0.87
R5301:Asb1	UTSW	1	91,482,475 (GRCm39)	missense	probably damaging	0.97
R6039:Asb1	UTSW	1	91,474,748 (GRCm39)	missense	probably damaging	1.00
R8552:Asb1	UTSW	1	91,480,078 (GRCm39)	missense	probably damaging	1.00
R9009:Asb1	UTSW	1	91,480,206 (GRCm39)	makesense	probably null
R9009:Asb1	UTSW	1	91,480,205 (GRCm39)	missense	unknown
R9013:Asb1	UTSW	1	91,480,163 (GRCm39)	critical splice donor site	probably null
R9213:Asb1	UTSW	1	91,482,531 (GRCm39)	missense	probably damaging	1.00
R9253:Asb1	UTSW	1	91,468,551 (GRCm39)	missense	unknown
R9286:Asb1	UTSW	1	91,480,150 (GRCm39)	missense	probably benign	0.00
R9643:Asb1	UTSW	1	91,480,116 (GRCm39)	missense	probably benign
R9689:Asb1	UTSW	1	91,474,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCAGGGTTAGTCTTTCTCGG -3'
(R):5'- ATAAGAGCCTTCAGGATGTCG -3'

Sequencing Primer
(F):5'- AGTCTTTCTCGGGAGCCTCTG -3'
(R):5'- GGATGTCGTCCCTACCCACAC -3'

Posted On

2017-08-16