Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Asb13'

404523

Institutional Source

Beutler Lab

Gene Symbol

Asb13

Ensembl Gene

ENSMUSG00000033781

Gene Name

ankyrin repeat and SOCS box-containing 13

Synonyms

6430573K02Rik, 2210015B19Rik

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3684032-3703822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3693479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 79 (D79V)

Ref Sequence

ENSEMBL: ENSMUSP00000046476 (fasta)

Gene Model

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

AlphaFold

Q8VBX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042288
AA Change: D79V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: D79V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141967

Meta Mutation Damage Score

0.6433

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	probably benign	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
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
R8143:Asb13	UTSW	13	3,692,065 (GRCm39)	missense	probably damaging	0.99
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'- AAGAGGCTCCTACATTCCTACC -3'
(R):5'- ATACAGGCCTCCTCCTTTGG -3'

Sequencing Primer
(F):5'- TACATTCCTACCCCAATCCATG -3'
(R):5'- GTACTTGGGTAATTTTGGTCTCTAAC -3'

Posted On

2016-07-22