Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:Asb13'

632658

Institutional Source

Beutler Lab

Gene Symbol

Asb13

Ensembl Gene

ENSMUSG00000033781

Gene Name

ankyrin repeat and SOCS box-containing 13

Synonyms

6430573K02Rik, 2210015B19Rik

MMRRC Submission

067571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8143 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

3684032-3703822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3692065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 15 (G15D)

Ref Sequence

ENSEMBL: ENSMUSP00000046476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042288]

AlphaFold

Q8VBX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042288
AA Change: G15D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: G15D

Domain	Start	End	E-Value	Type
ANK	18	47	1.25e2	SMART
ANK	51	80	3.91e-3	SMART
ANK	84	113	1.53e-5	SMART
ANK	116	145	3.71e-4	SMART
ANK	149	178	6.65e-6	SMART
ANK	181	210	6.92e-4	SMART
SOCS_box	239	278	2.43e-9	SMART

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

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. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,265,884 (GRCm39)	C262F	probably damaging	Het
Acss1	T	C	2: 150,509,801 (GRCm39)		probably null	Het
Adamtsl1	T	C	4: 86,260,492 (GRCm39)	V909A	possibly damaging	Het
Adprh	G	A	16: 38,270,694 (GRCm39)	T37M	probably benign	Het
Ak9	T	A	10: 41,213,588 (GRCm39)	Y264*	probably null	Het
Aox3	G	T	1: 58,198,074 (GRCm39)	A629S	probably benign	Het
Apcs	G	A	1: 172,721,900 (GRCm39)	P149S	probably damaging	Het
Arnt	T	A	3: 95,377,294 (GRCm39)		probably null	Het
Bltp1	T	G	3: 37,000,657 (GRCm39)		probably null	Het
Cacnb1	T	G	11: 97,894,146 (GRCm39)	T459P	probably benign	Het
Chrnb2	T	C	3: 89,654,630 (GRCm39)	T718A	unknown	Het
Cttn	T	A	7: 144,014,999 (GRCm39)	K70*	probably null	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp39a1	T	C	17: 44,036,517 (GRCm39)	V349A	probably benign	Het
Ebf2	C	A	14: 67,649,386 (GRCm39)	Y430*	probably null	Het
Eef2	T	C	10: 81,017,182 (GRCm39)	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 79,165,961 (GRCm39)	T412I	probably benign	Het
Flnc	G	C	6: 29,441,484 (GRCm39)	R422P	probably benign	Het
Fryl	G	A	5: 73,207,682 (GRCm39)	A2496V	probably benign	Het
Galnt6	A	G	15: 100,614,088 (GRCm39)	L71P	probably damaging	Het
Gm7579	C	T	7: 141,766,163 (GRCm39)	Q190*	probably null	Het
H2-T3	T	A	17: 36,498,384 (GRCm39)	R220S	probably benign	Het
Hmcn1	A	G	1: 150,734,957 (GRCm39)	V185A	probably benign	Het
Ifi208	T	A	1: 173,510,242 (GRCm39)	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,884,255 (GRCm39)	V981I	probably damaging	Het
Itsn2	A	G	12: 4,683,003 (GRCm39)	T310A	unknown	Het
Kat5	A	G	19: 5,657,577 (GRCm39)		probably null	Het
Kif22	A	T	7: 126,632,397 (GRCm39)	D304E	probably damaging	Het
Mapre3	A	T	5: 31,020,719 (GRCm39)	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,628,537 (GRCm39)	V330A	probably benign	Het
Mylk	G	A	16: 34,734,525 (GRCm39)	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,287,476 (GRCm39)		probably null	Het
N4bp2l2	A	T	5: 150,585,670 (GRCm39)	D103E	probably benign	Het
Nckap1	T	C	2: 80,336,530 (GRCm39)	K1062R	possibly damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Numa1	A	G	7: 101,648,891 (GRCm39)	Q874R	possibly damaging	Het
Olig3	T	G	10: 19,232,732 (GRCm39)	V119G	probably damaging	Het
Or7g34	A	G	9: 19,478,587 (GRCm39)	V31A	probably benign	Het
Osbpl9	A	G	4: 108,922,906 (GRCm39)	S485P	probably benign	Het
Otogl	A	G	10: 107,642,527 (GRCm39)	F1301S	probably damaging	Het
Pank3	A	G	11: 35,667,036 (GRCm39)	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,136,658 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,824,415 (GRCm39)		probably null	Het
Psmd9	T	G	5: 123,366,479 (GRCm39)	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,692,117 (GRCm39)	S135P	probably damaging	Het
Rexo5	T	A	7: 119,433,484 (GRCm39)		probably null	Het
Rsrp1	T	A	4: 134,654,319 (GRCm39)	D286E	probably benign	Het
Scara3	C	T	14: 66,169,269 (GRCm39)	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,096,793 (GRCm39)	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,257,138 (GRCm39)	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,568,230 (GRCm39)	L89Q	probably damaging	Het
Tgm6	T	A	2: 129,983,763 (GRCm39)	N307K	probably damaging	Het
Tmem86b	G	T	7: 4,631,484 (GRCm39)	D189E	probably damaging	Het
Trim65	G	A	11: 116,017,287 (GRCm39)	R392C	probably benign	Het
Trpc7	T	C	13: 56,930,362 (GRCm39)	T769A	probably benign	Het
Trrap	T	A	5: 144,772,707 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,693,677 (GRCm39)	E397G	possibly damaging	Het
Vcl	A	T	14: 21,037,112 (GRCm39)	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,693,036 (GRCm39)	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,718,312 (GRCm39)	D555V	probably damaging	Het
Wnk4	A	G	11: 101,153,625 (GRCm39)	N229S	probably damaging	Het
Zfp784	A	C	7: 5,038,910 (GRCm39)	V216G	possibly damaging	Het

Other mutations in Asb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Asb13	APN	13	3,693,476 (GRCm39)	missense	probably null	1.00
IGL00929:Asb13	APN	13	3,699,427 (GRCm39)	missense	probably damaging	1.00
IGL01533:Asb13	APN	13	3,692,164 (GRCm39)	missense	probably benign	0.05
R0654:Asb13	UTSW	13	3,692,092 (GRCm39)	missense	probably damaging	1.00
R0694:Asb13	UTSW	13	3,699,480 (GRCm39)	missense	probably benign	0.16
R0883:Asb13	UTSW	13	3,695,052 (GRCm39)	critical splice donor site	probably null
R2014:Asb13	UTSW	13	3,699,512 (GRCm39)	critical splice donor site	probably null
R2290:Asb13	UTSW	13	3,699,418 (GRCm39)	missense	probably damaging	1.00
R4320:Asb13	UTSW	13	3,695,012 (GRCm39)	missense	possibly damaging	0.69
R4322:Asb13	UTSW	13	3,695,012 (GRCm39)	missense	possibly damaging	0.69
R4324:Asb13	UTSW	13	3,695,012 (GRCm39)	missense	possibly damaging	0.69
R4895:Asb13	UTSW	13	3,693,589 (GRCm39)	missense	probably damaging	0.99
R5305:Asb13	UTSW	13	3,693,479 (GRCm39)	missense	probably damaging	1.00
R6417:Asb13	UTSW	13	3,693,574 (GRCm39)	missense	probably damaging	1.00
R6420:Asb13	UTSW	13	3,693,574 (GRCm39)	missense	probably damaging	1.00
R6813:Asb13	UTSW	13	3,695,029 (GRCm39)	missense	probably damaging	1.00
R7648:Asb13	UTSW	13	3,699,332 (GRCm39)	missense	probably damaging	1.00
R7735:Asb13	UTSW	13	3,684,180 (GRCm39)	splice site	probably null
R7771:Asb13	UTSW	13	3,699,463 (GRCm39)	missense	probably damaging	1.00
R7944:Asb13	UTSW	13	3,699,413 (GRCm39)	missense	probably damaging	1.00
R8737:Asb13	UTSW	13	3,692,089 (GRCm39)	missense	probably damaging	0.97
R8966:Asb13	UTSW	13	3,692,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGACACCCTTATATGCCC -3'
(R):5'- TCAATGCCGAATGGTCACCC -3'

Sequencing Primer
(F):5'- GCCCTAGCAAGAACTTTGAGCTC -3'
(R):5'- CGAATGGTCACCCACCTG -3'

Posted On

2020-06-30