Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Asb18'

701635

Institutional Source

Beutler Lab

Gene Symbol

Asb18

Ensembl Gene

ENSMUSG00000067081

Gene Name

ankyrin repeat and SOCS box-containing 18

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89880313-89942388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89882185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 382 (V382I)

Ref Sequence

ENSEMBL: ENSMUSP00000084095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]

AlphaFold

Q8VHA6

Predicted Effect

probably benign
Transcript: ENSMUST00000086882
AA Change: V382I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: V382I

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	3e-8	BLAST
ANK	119	148	5.32e-5	SMART
ANK	151	180	1.99e-4	SMART
ANK	184	213	3.26e2	SMART
ANK	218	247	3.95e1	SMART
ANK	251	289	1.96e3	SMART
ANK	293	322	6.61e-1	SMART
Blast:ANK	329	365	1e-12	BLAST
SOCS_box	422	461	4.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097656
AA Change: V118I

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
AA Change: V118I

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	1e-8	BLAST
SOCS_box	158	197	4.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151330

SMART Domains

Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154228

SMART Domains

Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081

Domain	Start	End	E-Value	Type
Blast:ANK	15	44	9e-9	BLAST
ANK	78	107	5.32e-5	SMART
ANK	110	139	1.99e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a 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, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Adh4	A	T	3: 138,129,860 (GRCm39)	I229F	probably damaging	Het
Ajm1	T	C	2: 25,467,172 (GRCm39)	H913R	possibly damaging	Het
Aldh3b1	T	A	19: 3,965,315 (GRCm39)	S399C	probably damaging	Het
Arhgef28	C	T	13: 98,124,779 (GRCm39)	G501D	probably benign	Het
Asb1	C	A	1: 91,468,551 (GRCm39)	T6N	unknown	Het
AU041133	T	C	10: 81,987,220 (GRCm39)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,759,176 (GRCm39)		silent	Het
Bcl7c	T	C	7: 127,306,403 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,711,083 (GRCm39)	N375S	possibly damaging	Het
C6	A	G	15: 4,764,679 (GRCm39)	Q125R	probably benign	Het
Card14	T	C	11: 119,212,759 (GRCm39)	S108P	probably benign	Het
Clec4a2	C	A	6: 123,100,608 (GRCm39)	T21N	probably damaging	Het
Cntnap2	C	T	6: 45,978,112 (GRCm39)	L256F	probably benign	Het
Cobll1	G	A	2: 64,981,503 (GRCm39)	T29I	probably benign	Het
Coq4	A	T	2: 29,685,433 (GRCm39)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm39)	L91S	probably benign	Het
Fat2	T	A	11: 55,201,397 (GRCm39)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 100,836,917 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,676,407 (GRCm39)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,378 (GRCm39)	S146P	probably damaging	Het
Heatr5b	A	G	17: 79,135,423 (GRCm39)	V236A	probably benign	Het
Hjv	T	C	3: 96,435,710 (GRCm39)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,796,645 (GRCm39)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,789,632 (GRCm39)	A57S	probably benign	Het
Lilrb4b	G	A	10: 51,357,863 (GRCm39)	V186I	probably damaging	Het
Map1a	T	C	2: 121,132,823 (GRCm39)	V1213A	probably benign	Het
Marf1	T	C	16: 13,935,172 (GRCm39)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,279,264 (GRCm39)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,261,239 (GRCm39)	V178E	probably benign	Het
Myh11	T	A	16: 14,074,359 (GRCm39)	I174F		Het
Ndufv1	G	T	19: 4,059,412 (GRCm39)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrp1	T	C	8: 129,229,144 (GRCm39)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,804,142 (GRCm39)	G197S	probably null	Het
Or10al2	A	T	17: 37,983,637 (GRCm39)	H241L	probably benign	Het
Or2t26	T	C	11: 49,039,822 (GRCm39)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,014,137 (GRCm39)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,351,012 (GRCm39)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,554,529 (GRCm39)		probably benign	Het
Pgk2	C	T	17: 40,519,233 (GRCm39)	G65D	probably damaging	Het
Plcd3	T	C	11: 102,970,460 (GRCm39)	D193G	probably benign	Het
Plcl2	T	G	17: 50,915,127 (GRCm39)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,052,015 (GRCm39)	V68A	probably benign	Het
Polr2b	A	G	5: 77,493,224 (GRCm39)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,111,973 (GRCm39)	T200A	probably benign	Het
Rspry1	T	A	8: 95,349,621 (GRCm39)	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,855,205 (GRCm39)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,680,913 (GRCm39)	R72G	probably benign	Het
Smarca5	A	C	8: 81,446,344 (GRCm39)	L452W	probably damaging	Het
Srcin1	T	C	11: 97,416,377 (GRCm39)	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,716,738 (GRCm39)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,773,803 (GRCm39)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,930,644 (GRCm39)	T206A	probably damaging	Het
Ttn	T	A	2: 76,562,951 (GRCm39)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,645,817 (GRCm39)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,960 (GRCm39)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,129,582 (GRCm39)	S824R	probably damaging	Het
Vps54	G	A	11: 21,258,771 (GRCm39)	V733I	probably benign	Het
Zfp518b	G	T	5: 38,829,601 (GRCm39)	D801E	probably benign	Het
Zgrf1	C	A	3: 127,392,428 (GRCm39)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,739,463 (GRCm39)		probably benign	Het

Other mutations in Asb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Asb18	APN	1	89,923,963 (GRCm39)	missense	probably benign	0.02
IGL01559:Asb18	APN	1	89,882,172 (GRCm39)	missense	probably damaging	1.00
IGL02188:Asb18	APN	1	89,924,021 (GRCm39)	missense	probably benign	0.08
IGL02378:Asb18	APN	1	89,920,710 (GRCm39)	missense	probably damaging	1.00
IGL02543:Asb18	APN	1	89,942,113 (GRCm39)	missense	probably damaging	0.99
IGL02828:Asb18	APN	1	89,923,932 (GRCm39)	critical splice donor site	probably null
IGL02877:Asb18	APN	1	89,880,533 (GRCm39)	missense	possibly damaging	0.65
IGL03290:Asb18	APN	1	89,942,296 (GRCm39)	missense	probably damaging	1.00
R0560:Asb18	UTSW	1	89,942,250 (GRCm39)	missense	probably damaging	1.00
R0671:Asb18	UTSW	1	89,920,893 (GRCm39)	missense	probably damaging	1.00
R1468:Asb18	UTSW	1	89,924,005 (GRCm39)	missense	probably damaging	1.00
R1468:Asb18	UTSW	1	89,924,005 (GRCm39)	missense	probably damaging	1.00
R1510:Asb18	UTSW	1	89,923,976 (GRCm39)	missense	possibly damaging	0.62
R1721:Asb18	UTSW	1	89,896,302 (GRCm39)	missense	probably benign	0.36
R1793:Asb18	UTSW	1	89,942,277 (GRCm39)	missense	probably damaging	1.00
R1863:Asb18	UTSW	1	89,942,104 (GRCm39)	missense	probably benign	0.10
R2171:Asb18	UTSW	1	89,896,419 (GRCm39)	missense	probably benign	0.01
R2348:Asb18	UTSW	1	89,942,256 (GRCm39)	missense	probably damaging	0.99
R3052:Asb18	UTSW	1	89,920,707 (GRCm39)	missense	probably damaging	1.00
R3053:Asb18	UTSW	1	89,920,707 (GRCm39)	missense	probably damaging	1.00
R3427:Asb18	UTSW	1	89,896,315 (GRCm39)	missense	probably damaging	0.99
R4094:Asb18	UTSW	1	89,942,147 (GRCm39)	missense	probably damaging	1.00
R4105:Asb18	UTSW	1	89,896,243 (GRCm39)	missense	possibly damaging	0.61
R4405:Asb18	UTSW	1	89,896,411 (GRCm39)	missense	probably benign	0.00
R4815:Asb18	UTSW	1	89,942,147 (GRCm39)	missense	probably damaging	1.00
R4992:Asb18	UTSW	1	89,880,585 (GRCm39)	missense	probably benign	0.03
R5287:Asb18	UTSW	1	89,942,110 (GRCm39)	missense	probably benign	0.01
R5403:Asb18	UTSW	1	89,942,110 (GRCm39)	missense	probably benign	0.01
R5494:Asb18	UTSW	1	89,882,121 (GRCm39)	missense	probably damaging	1.00
R5504:Asb18	UTSW	1	89,920,746 (GRCm39)	missense	probably damaging	1.00
R5617:Asb18	UTSW	1	89,882,184 (GRCm39)	missense	possibly damaging	0.90
R5826:Asb18	UTSW	1	89,942,260 (GRCm39)	missense	probably damaging	0.97
R6369:Asb18	UTSW	1	89,942,193 (GRCm39)	missense	probably damaging	0.99
R7474:Asb18	UTSW	1	89,920,755 (GRCm39)	missense	possibly damaging	0.91
R7751:Asb18	UTSW	1	89,896,206 (GRCm39)	missense	probably benign	0.09
R8707:Asb18	UTSW	1	89,920,857 (GRCm39)	missense	probably damaging	1.00
R9212:Asb18	UTSW	1	89,880,447 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTCAGATGTTTTACTTCCTGGC -3'
(R):5'- GGAACTGTCATTCTGGGTGG -3'

Sequencing Primer
(F):5'- GTGTTTTGTCATAGCAACGGAACCC -3'
(R):5'- AACTGTCATTCTGGGTGGTTTGG -3'

Posted On

2022-03-25