Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Asb1'

392454

Institutional Source

Beutler Lab

Gene Symbol

Asb1

Ensembl Gene

ENSMUSG00000026311

Gene Name

ankyrin repeat and SOCS box-containing 1

Synonyms

1700029O08Rik, 1700054C17Rik

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91468266-91487311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91480066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 162 (N162S)

Ref Sequence

ENSEMBL: ENSMUSP00000140281 (fasta)

Gene Model

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

AlphaFold

Q9WV74

Predicted Effect

probably benign
Transcript: ENSMUST00000027538
AA Change: N23S

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311
AA Change: N23S

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 benign
Transcript: ENSMUST00000086843
AA Change: N263S

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: N263S

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: 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 benign
Transcript: ENSMUST00000188081
AA Change: N255S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: N255S

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 benign
Transcript: ENSMUST00000188879
AA Change: N255S

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: N255S

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

possibly damaging
Transcript: ENSMUST00000190484
AA Change: N162S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: N162S

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

Meta Mutation Damage Score

0.1277

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	probably damaging	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
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
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'- ACCTTCAGTGCTTCAGGCTG -3'
(R):5'- ACTCTGGAGAACTGCTGGTC -3'

Sequencing Primer
(F):5'- CAGTGCTTCAGGCTGCTCTTG -3'
(R):5'- TCTAATAGCTGAGCCGTCTCGAG -3'

Posted On

2016-06-15