Mutagenetix > Incidental Mutation

Incidental Mutation 'R6813:Asb13'

533972

Institutional Source

Beutler Lab

Gene Symbol

Asb13

Ensembl Gene

ENSMUSG00000033781

Gene Name

ankyrin repeat and SOCS box-containing 13

Synonyms

6430573K02Rik, 2210015B19Rik

MMRRC Submission

044925-MU

Accession Numbers

Essential gene?

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

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3684032-3703822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3695029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 166 (V166F)

Ref Sequence

ENSEMBL: ENSMUSP00000046476 (fasta)

Gene Model

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

AlphaFold

Q8VBX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042288
AA Change: V166F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: V166F

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

Meta Mutation Damage Score

0.5447

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	A	4: 129,903,284 (GRCm39)	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,402,519 (GRCm39)	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,214,794 (GRCm39)	M164K	probably benign	Het
Atm	T	G	9: 53,408,535 (GRCm39)	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,417,123 (GRCm39)	I626T	probably damaging	Het
Brsk2	A	G	7: 141,556,214 (GRCm39)	I649V	probably benign	Het
Ccdc25	T	A	14: 66,093,882 (GRCm39)	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,294,049 (GRCm39)	V231A	probably damaging	Het
Clstn3	T	A	6: 124,413,894 (GRCm39)	M767L	probably benign	Het
Col6a6	C	T	9: 105,661,140 (GRCm39)	R323K	probably benign	Het
Cplane1	T	A	15: 8,258,766 (GRCm39)	N2337K	probably benign	Het
Creld1	A	G	6: 113,466,530 (GRCm39)	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,245,806 (GRCm39)	D254E	probably benign	Het
Dab2ip	C	T	2: 35,620,485 (GRCm39)	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,678,300 (GRCm39)	S98R	possibly damaging	Het
Disp3	G	A	4: 148,344,387 (GRCm39)	P505L	probably benign	Het
Dlec1	A	T	9: 118,941,170 (GRCm39)	Q240L	probably benign	Het
Dnai4	T	C	4: 102,905,523 (GRCm39)	K753E	probably benign	Het
Edil3	T	A	13: 89,437,575 (GRCm39)	I392N	probably damaging	Het
Epha10	T	A	4: 124,796,486 (GRCm39)	S398R		Het
Ephb1	A	G	9: 101,887,247 (GRCm39)	I464T	possibly damaging	Het
Eps15	T	A	4: 109,137,599 (GRCm39)		probably null	Het
Fam111a	T	A	19: 12,564,706 (GRCm39)	C152S	probably damaging	Het
Flt3	T	C	5: 147,291,653 (GRCm39)	E599G	probably damaging	Het
Frmd3	T	C	4: 74,077,482 (GRCm39)	S259P	probably benign	Het
Hsfy2	A	G	1: 56,675,461 (GRCm39)	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,476,037 (GRCm39)	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,269,358 (GRCm39)	D818E	probably damaging	Het
Il4i1	A	G	7: 44,489,236 (GRCm39)	T334A	probably benign	Het
Irs2	G	A	8: 11,054,659 (GRCm39)	Q1258*	probably null	Het
Lsm1	T	G	8: 26,283,721 (GRCm39)	H44Q	probably benign	Het
Mgam	A	T	6: 40,727,099 (GRCm39)	M1257L	probably damaging	Het
Myc	T	C	15: 61,860,001 (GRCm39)	S225P	probably damaging	Het
Myh1	T	C	11: 67,111,286 (GRCm39)	V1575A	probably benign	Het
Myo9b	A	G	8: 71,775,949 (GRCm39)	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,572,188 (GRCm39)	D157V	probably damaging	Het
Or10g9b	T	A	9: 39,917,753 (GRCm39)	H164L	probably benign	Het
Or2t44	G	T	11: 58,677,472 (GRCm39)	Q137H	probably benign	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8b36	T	C	9: 37,937,129 (GRCm39)	V9A	probably damaging	Het
Or8b9	A	C	9: 37,766,810 (GRCm39)	E232A	possibly damaging	Het
Pccb	A	G	9: 100,905,268 (GRCm39)	V117A	probably damaging	Het
Pdp2	C	T	8: 105,321,131 (GRCm39)	H327Y	probably damaging	Het
Pdzph1	G	T	17: 59,281,431 (GRCm39)	Q284K	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Phldb1	A	T	9: 44,610,865 (GRCm39)	S751R	probably damaging	Het
Pira1	T	C	7: 3,739,002 (GRCm39)	H535R	probably benign	Het
Ppp1r1b	T	A	11: 98,240,002 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,570 (GRCm39)	V448A	probably benign	Het
Pvrig-ps	A	T	5: 138,340,312 (GRCm39)	T28S	probably benign	Het
Rasgrf1	G	A	9: 89,892,537 (GRCm39)		probably null	Het
Scnn1g	T	C	7: 121,339,576 (GRCm39)	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,775,460 (GRCm39)	D221E	probably benign	Het
Spata31e1	T	A	13: 49,940,872 (GRCm39)	R279S	probably benign	Het
Tmem30c	A	G	16: 57,101,622 (GRCm39)		probably null	Het
Tmem33	T	C	5: 67,421,802 (GRCm39)		probably null	Het
Ttc29	A	T	8: 79,060,249 (GRCm39)	T390S	probably benign	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,104,439 (GRCm39)	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,802,116 (GRCm39)	H119R	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	Het
Wtap	A	T	17: 13,186,397 (GRCm39)	N383K	probably damaging	Het
Zfp808	T	C	13: 62,320,849 (GRCm39)	Y693H	probably 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
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'- TGGCTACCATTTCCAGTGTG -3'
(R):5'- GACGAACTGAGAAATGCTGTC -3'

Sequencing Primer
(F):5'- CCAGTGTGTGTATTCATGAACGTC -3'
(R):5'- CTGAGAAATGCTGTCCTCACAATTGC -3'

Posted On

2018-09-12