Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Asb13'

598591

Institutional Source

Beutler Lab

Gene Symbol

Asb13

Ensembl Gene

ENSMUSG00000033781

Gene Name

ankyrin repeat and SOCS box-containing 13

Synonyms

6430573K02Rik, 2210015B19Rik

MMRRC Submission

045827-MU

Accession Numbers

Essential gene?

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

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3684032-3703822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3699463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 221 (Y221C)

Ref Sequence

ENSEMBL: ENSMUSP00000046476 (fasta)

Gene Model

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

AlphaFold

Q8VBX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042288
AA Change: Y221C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: Y221C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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
Abcb11	C	T	2: 69,069,535 (GRCm39)	A1287T	probably damaging	Het
Ahnak	A	G	19: 8,992,411 (GRCm39)	K4565R	probably damaging	Het
BB014433	C	T	8: 15,092,395 (GRCm39)	V153M	probably damaging	Het
Brip1	T	C	11: 85,952,850 (GRCm39)	E977G	probably benign	Het
C3	T	A	17: 57,522,797 (GRCm39)	D1029V	probably damaging	Het
Ccdc116	T	C	16: 16,957,455 (GRCm39)	E568G	probably benign	Het
Cdhr2	T	C	13: 54,866,088 (GRCm39)	V296A	probably damaging	Het
Cenpe	A	G	3: 134,946,702 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,491,753 (GRCm39)	V357A	probably damaging	Het
Coa3	A	T	11: 101,169,641 (GRCm39)	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,675,947 (GRCm39)	N255S	probably benign	Het
Cysrt1	T	C	2: 25,129,237 (GRCm39)	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,690,842 (GRCm39)	E52G	possibly damaging	Het
Derl1	T	C	15: 57,743,436 (GRCm39)	D97G	probably damaging	Het
Ebf3	A	G	7: 136,911,092 (GRCm39)	Y141H	probably damaging	Het
Eci1	T	A	17: 24,652,125 (GRCm39)	L49*	probably null	Het
Gzma	C	T	13: 113,234,829 (GRCm39)	C54Y	probably damaging	Het
Hydin	A	G	8: 111,291,717 (GRCm39)	N3403S	probably damaging	Het
Ide	T	C	19: 37,275,525 (GRCm39)	N495D		Het
Ighv1-23	T	A	12: 114,728,356 (GRCm39)	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,228,172 (GRCm39)	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,336,949 (GRCm39)	H272N	probably damaging	Het
Lrp6	C	T	6: 134,439,579 (GRCm39)	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,916,476 (GRCm39)	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,740,636 (GRCm39)	E121G	probably damaging	Het
Mzt1	A	T	14: 99,278,012 (GRCm39)	I52N	probably damaging	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or52z12	A	G	7: 103,233,297 (GRCm39)	I23V	probably benign	Het
Or7e166	T	A	9: 19,624,767 (GRCm39)	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,619,962 (GRCm39)	Y584S	possibly damaging	Het
Per3	A	T	4: 151,110,657 (GRCm39)	D380E	probably damaging	Het
Per3	A	T	4: 151,125,902 (GRCm39)	L139Q	probably damaging	Het
Pgap6	T	C	17: 26,341,047 (GRCm39)	Y717H	probably damaging	Het
Pik3cg	T	C	12: 32,254,013 (GRCm39)	H658R	probably benign	Het
Pitpnm3	G	A	11: 71,952,314 (GRCm39)	Q626*	probably null	Het
Polr3e	T	C	7: 120,539,801 (GRCm39)	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,224 (GRCm39)	H866L	possibly damaging	Het
Rnf150	A	G	8: 83,590,832 (GRCm39)	E65G	probably benign	Het
Sema3f	C	A	9: 107,569,625 (GRCm39)	R100L	possibly damaging	Het
Skic3	A	G	13: 76,283,149 (GRCm39)	H792R	probably benign	Het
Smim18	T	C	8: 34,232,370 (GRCm39)	D83G	possibly damaging	Het
Snx13	T	A	12: 35,174,527 (GRCm39)	D685E	probably benign	Het
Stat5a	A	C	11: 100,754,045 (GRCm39)	N125T	probably benign	Het
Stk24	T	C	14: 121,575,045 (GRCm39)	E21G	probably damaging	Het
Tasor	A	G	14: 27,189,516 (GRCm39)	T923A	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tmprss11b	A	T	5: 86,809,554 (GRCm39)		probably null	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc39a	T	C	4: 109,288,647 (GRCm39)	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,287,460 (GRCm39)		probably null	Het
Wdr73	G	A	7: 80,542,975 (GRCm39)	A211V	probably benign	Het
Zc3h4	T	C	7: 16,163,824 (GRCm39)	V673A	unknown	Het
Zfp382	A	G	7: 29,832,760 (GRCm39)	H137R	probably damaging	Het
Zp2	T	G	7: 119,742,865 (GRCm39)	D89A	probably damaging	Het
Zpld2	A	T	4: 133,922,754 (GRCm39)	N526K	probably benign	Het
Zranb3	A	C	1: 127,960,605 (GRCm39)	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,763,048 (GRCm39)	V316I	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
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
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'- CCCTCTGACAAAGGGTGATG -3'
(R):5'- GCTCAGACCTCAGCTCAAAG -3'

Sequencing Primer
(F):5'- CCCTCTGACAAAGGGTGATGTGTAG -3'
(R):5'- GGAGTATCTGCACAACAG -3'

Posted On

2019-11-26