Mutagenetix > Incidental Mutation

Incidental Mutation 'R8714:Asb14'

669787

Institutional Source

Beutler Lab

Gene Symbol

Asb14

Ensembl Gene

ENSMUSG00000021898

Gene Name

ankyrin repeat and SOCS box-containing 14

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26894557-26915258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26901075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 135 (P135S)

Ref Sequence

ENSEMBL: ENSMUSP00000129753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090337] [ENSMUST00000165929] [ENSMUST00000167929]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090337
AA Change: P135S

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: P135S

Domain	Start	End	E-Value	Type
ANK	109	138	9.62e2	SMART
ANK	144	173	2.34e-1	SMART
ANK	177	206	1.7e-3	SMART
ANK	210	239	1.7e-3	SMART
ANK	243	272	2.66e-5	SMART
ANK	276	305	4.75e-2	SMART
ANK	309	337	4.31e2	SMART
ANK	341	370	5.24e-4	SMART
ANK	383	412	3.6e-2	SMART
ANK	413	442	5.45e-2	SMART
ANK	450	477	1.9e3	SMART
SOCS_box	559	601	1.8e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165305

SMART Domains

Protein: ENSMUSP00000131669
Gene: ENSMUSG00000021898

Domain	Start	End	E-Value	Type
ANK	26	55	1.7e-3	SMART
ANK	59	88	7.71e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165929
AA Change: P135S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: P135S

Domain	Start	End	E-Value	Type
ANK	109	138	9.62e2	SMART
ANK	144	173	2.34e-1	SMART
ANK	177	206	1.7e-3	SMART
ANK	210	239	1.7e-3	SMART
ANK	243	272	2.66e-5	SMART
ANK	276	305	4.75e-2	SMART
ANK	309	337	4.31e2	SMART
ANK	341	370	5.24e-4	SMART
ANK	383	412	3.6e-2	SMART
ANK	413	442	5.45e-2	SMART
ANK	450	477	1.9e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167929

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,242,896	A137T	probably benign	Het
4930474N05Rik	T	A	14: 36,096,499	C151*	probably null	Het
Abca4	A	G	3: 122,148,879	T1674A	probably benign	Het
Acat3	A	T	17: 12,928,629	V167E	probably benign	Het
Alb	T	C	5: 90,461,015		probably null	Het
Apol9a	T	C	15: 77,404,742	T142A	probably benign	Het
Asb17	A	G	3: 153,850,676	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,720,588	I750N	probably damaging	Het
Bard1	T	C	1: 71,030,827	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,632,381		probably benign	Het
Card11	T	A	5: 140,913,392	D9V	possibly damaging	Het
Casp8	A	T	1: 58,833,653	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,873,772		probably null	Het
Cep350	T	C	1: 155,860,731	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,793,274	I110M	probably benign	Het
Chid1	T	A	7: 141,513,765	K313*	probably null	Het
Col16a1	T	A	4: 130,054,168	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,746,563	E6*	probably null	Het
Ddx41	T	C	13: 55,534,437	Q208R	probably damaging	Het
Dhrs13	G	C	11: 78,032,666	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,691,445	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,462,284	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,194,764	V71I	probably benign	Het
Gm8882	G	A	6: 132,364,088	T7I	unknown	Het
H2-Q2	T	C	17: 35,343,362	L195P	possibly damaging	Het
Hemgn	C	T	4: 46,395,904	G444D	probably damaging	Het
Lmtk2	A	G	5: 144,176,058	T1199A	probably damaging	Het
Ly75	T	C	2: 60,334,485	D783G	probably damaging	Het
Micall1	G	A	15: 79,127,310	A627T	probably benign	Het
Morc2a	C	T	11: 3,675,877	T159I	probably benign	Het
Mthfr	C	A	4: 148,041,818	N115K	probably damaging	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Mug1	C	T	6: 121,882,722	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,196,782	D163V	possibly damaging	Het
Olfr644	T	A	7: 104,068,276	I252F	probably damaging	Het
Pcnx2	C	T	8: 125,773,807	V1515I	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr3	G	T	11: 69,848,012	G167C	probably benign	Het
Plxna4	T	A	6: 32,163,444	K1670*	probably null	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rnf157	C	A	11: 116,347,065	A577S	probably benign	Het
Rnf213	C	T	11: 119,468,894	S4371L		Het
S1pr1	A	T	3: 115,711,821	S375T	probably benign	Het
Spen	T	C	4: 141,488,003	N506S	unknown	Het
Sulf1	T	A	1: 12,807,917	Y210N	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tg	A	G	15: 66,684,042	N861S	probably damaging	Het
Ttc29	A	G	8: 78,333,702	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,367,411		probably benign	Het
Vmn1r62	C	A	7: 5,675,630	Y103*	probably null	Het
Zfp804b	A	T	5: 6,772,378	Y228*	probably null	Het

Other mutations in Asb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Asb14	APN	14	26912041	missense	probably benign	0.01
IGL01412:Asb14	APN	14	26915065	missense	probably damaging	1.00
IGL02805:Asb14	APN	14	26901187	missense	possibly damaging	0.89
IGL03100:Asb14	APN	14	26903372	missense	probably benign	0.03
R1208:Asb14	UTSW	14	26900418	splice site	probably benign
R1707:Asb14	UTSW	14	26901122	missense	probably benign	0.14
R1828:Asb14	UTSW	14	26911840	missense	possibly damaging	0.67
R3056:Asb14	UTSW	14	26914189	missense	possibly damaging	0.62
R3926:Asb14	UTSW	14	26897738	missense	possibly damaging	0.92
R4991:Asb14	UTSW	14	26915058	missense	probably damaging	1.00
R4996:Asb14	UTSW	14	26912116	missense	possibly damaging	0.94
R5306:Asb14	UTSW	14	26911909	missense	probably damaging	1.00
R5524:Asb14	UTSW	14	26900451	missense	possibly damaging	0.94
R7032:Asb14	UTSW	14	26903455	missense	probably benign	0.06
R7202:Asb14	UTSW	14	26900437	missense	probably benign	0.13
R7259:Asb14	UTSW	14	26903455	missense	probably benign	0.06
R7468:Asb14	UTSW	14	26900848	missense	probably benign	0.10
R7733:Asb14	UTSW	14	26912352	missense	probably benign	0.00
R7765:Asb14	UTSW	14	26897761	missense	probably benign	0.03
R8162:Asb14	UTSW	14	26911988	missense	probably benign	0.01
R8305:Asb14	UTSW	14	26912097	missense	probably benign	0.01
R8408:Asb14	UTSW	14	26915110	missense	probably damaging	1.00
R9415:Asb14	UTSW	14	26911836	missense	probably damaging	1.00
R9559:Asb14	UTSW	14	26915095	missense	possibly damaging	0.65
R9608:Asb14	UTSW	14	26912191	missense	probably damaging	1.00
Z1088:Asb14	UTSW	14	26903348	missense	probably benign	0.02
Z1177:Asb14	UTSW	14	26912299	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATGGGAATGGCTGGCTTC -3'
(R):5'- GGGCCAAATTGTCAGTGTCC -3'

Sequencing Primer
(F):5'- ATGGCTGGCTTCCTCTGCATAAG -3'
(R):5'- AGACTCTTCGTCAAAGACAGTGTG -3'

Posted On

2021-04-30