Mutagenetix > Incidental Mutation

Incidental Mutation 'R9689:Asb1'

729020

Institutional Source

Beutler Lab

Gene Symbol

Asb1

Ensembl Gene

ENSMUSG00000026311

Gene Name

ankyrin repeat and SOCS box-containing 1

Synonyms

1700029O08Rik, 1700054C17Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91468266-91487311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91474708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 85 (I85V)

Ref Sequence

ENSEMBL: ENSMUSP00000084054 (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: I85V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: I85V

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 damaging
Transcript: ENSMUST00000188081
AA Change: I77V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: I77V

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: I77V

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

SMART Domains

Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: I77V

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,780 (GRCm39)	V1538E	probably damaging	Het
Ank1	T	C	8: 23,631,253 (GRCm39)	V1833A	probably benign	Het
Apc2	G	A	10: 80,150,733 (GRCm39)	R1929Q	probably damaging	Het
Bco2	A	T	9: 50,445,938 (GRCm39)	I486K	probably damaging	Het
Braf	T	A	6: 39,591,084 (GRCm39)	I792F	probably damaging	Het
Cacng2	T	C	15: 77,879,399 (GRCm39)	K308E	possibly damaging	Het
Ccr6	G	T	17: 8,475,821 (GRCm39)	R342L	possibly damaging	Het
Cdh16	T	A	8: 105,341,108 (GRCm39)	I802F	probably benign	Het
Cftr	T	C	6: 18,313,649 (GRCm39)	I1291T	probably damaging	Het
CN725425	T	A	15: 91,120,030 (GRCm39)	D50E	possibly damaging	Het
Cnga1	T	C	5: 72,762,170 (GRCm39)	Y448C	probably benign	Het
Cntnap1	T	C	11: 101,072,178 (GRCm39)	I477T	probably damaging	Het
Col18a1	G	A	10: 76,916,578 (GRCm39)	Q366*	probably null	Het
Csf3	C	A	11: 98,592,949 (GRCm39)	A104D	probably benign	Het
Dmbt1	A	G	7: 130,660,015 (GRCm39)	H422R	unknown	Het
Dnah12	A	G	14: 26,590,871 (GRCm39)	D3325G	probably null	Het
Dnah17	T	C	11: 117,963,731 (GRCm39)	D2514G	probably damaging	Het
Fgf9	T	A	14: 58,310,680 (GRCm39)	H56Q	probably damaging	Het
Fgfr3	A	T	5: 33,892,248 (GRCm39)	Y689F	probably damaging	Het
Fhip2a	G	A	19: 57,369,710 (GRCm39)	V418I	probably benign	Het
Gar1	A	T	3: 129,624,269 (GRCm39)	D74E	probably damaging	Het
Helq	T	C	5: 100,934,927 (GRCm39)	K488E	possibly damaging	Het
Hmg20a	A	G	9: 56,381,823 (GRCm39)	H33R	possibly damaging	Het
Igsf10	T	C	3: 59,233,624 (GRCm39)	D1703G	probably damaging	Het
Jph3	A	T	8: 122,480,377 (GRCm39)	I352F	probably benign	Het
Kng1	T	C	16: 22,879,224 (GRCm39)	F96S	probably damaging	Het
Krtap5-2	C	A	7: 141,729,029 (GRCm39)	S217I	unknown	Het
Lamp3	T	C	16: 19,518,455 (GRCm39)	S261G	possibly damaging	Het
Macf1	A	G	4: 123,365,654 (GRCm39)	F3036L	probably benign	Het
Map4k4	G	A	1: 40,058,722 (GRCm39)	R972H	possibly damaging	Het
Mccc1	C	T	3: 36,030,903 (GRCm39)	D388N	probably benign	Het
Mcoln1	T	A	8: 3,557,436 (GRCm39)	Y147*	probably null	Het
Mei1	T	C	15: 81,997,129 (GRCm39)	S622P		Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Nav3	A	G	10: 109,605,034 (GRCm39)	L1013P	probably damaging	Het
Ndrg2	T	C	14: 52,146,071 (GRCm39)	N170S	probably damaging	Het
Ndufa12	G	A	10: 94,035,832 (GRCm39)	G40D	probably damaging	Het
Ogdhl	T	A	14: 32,059,523 (GRCm39)	V390E	probably damaging	Het
Or10ak12	A	C	4: 118,666,999 (GRCm39)	S21A	probably benign	Het
Or1e26	T	C	11: 73,479,686 (GRCm39)	R293G	probably damaging	Het
Or4d10	A	T	19: 12,051,567 (GRCm39)	I143K	possibly damaging	Het
Or4f6	T	A	2: 111,839,124 (GRCm39)	M136L	probably benign	Het
Or8g37	A	T	9: 39,731,801 (GRCm39)	I289F	possibly damaging	Het
Osgin1	A	G	8: 120,172,247 (GRCm39)	D347G	possibly damaging	Het
Oxct2a	A	T	4: 123,216,687 (GRCm39)	N231K	probably damaging	Het
Pak6	C	T	2: 118,520,243 (GRCm39)	T78M	probably benign	Het
Pde4dip	T	C	3: 97,649,841 (GRCm39)	Y1006C	probably damaging	Het
Psg18	A	G	7: 18,084,880 (GRCm39)	I193T	probably benign	Het
Psmd2	C	A	16: 20,479,173 (GRCm39)	H677Q	probably benign	Het
Resf1	T	A	6: 149,229,766 (GRCm39)	C937*	probably null	Het
Scaf11	C	T	15: 96,316,195 (GRCm39)	R1123H	probably damaging	Het
Setx	A	T	2: 29,051,555 (GRCm39)	S2036C	probably damaging	Het
Skint6	A	G	4: 113,093,546 (GRCm39)	F199S	probably damaging	Het
Slc3a2	A	T	19: 8,686,594 (GRCm39)	S367R	probably damaging	Het
Spidr	T	C	16: 15,871,304 (GRCm39)	D222G	probably damaging	Het
Styxl1	T	C	5: 135,799,190 (GRCm39)	E8G	probably null	Het
Sycp2l	T	A	13: 41,295,256 (GRCm39)	F308I	probably damaging	Het
Syk	A	C	13: 52,778,808 (GRCm39)	K298T	probably benign	Het
Tcp11	T	A	17: 28,286,028 (GRCm39)	Q529L	possibly damaging	Het
Tgfbi	A	G	13: 56,762,100 (GRCm39)	Y61C	probably damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Top2a	A	C	11: 98,914,883 (GRCm39)	S4A	probably benign	Het
Ttc4	G	T	4: 106,528,919 (GRCm39)	H166N	probably benign	Het
Ube2o	C	A	11: 116,435,639 (GRCm39)	R383L	possibly damaging	Het
Umod	A	G	7: 119,076,517 (GRCm39)	V83A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTGTTCTAAACCTCAGGG -3'
(R):5'- AGAGCCTTCAGGATGTCGTC -3'

Sequencing Primer
(F):5'- ACCTCAGGGTTAGTCTTTCTCGG -3'
(R):5'- CCACACGAGAGGCATGGTAC -3'

Posted On

2022-10-06