Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Asb14'

404587

Institutional Source

Beutler Lab

Gene Symbol

Asb14

Ensembl Gene

ENSMUSG00000021898

Gene Name

ankyrin repeat and SOCS box-containing 14

Synonyms

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26616514-26637215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26633866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 357 (C357Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129753 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090337
AA Change: C357Y

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

SMART Domains

Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: C357Y

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

probably damaging
Transcript: ENSMUST00000165929
AA Change: C357Y

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

SMART Domains

Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: C357Y

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

Meta Mutation Damage Score

0.3353

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,215 (GRCm39)	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints11	T	C	4: 155,959,665 (GRCm39)	Y91H	probably damaging	Het
Ints4	A	C	7: 97,158,885 (GRCm39)	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Or6c70	A	C	10: 129,709,810 (GRCm39)	I272R	probably damaging	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,953,754 (GRCm39)	D379G	probably benign	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	probably damaging	Het

Other mutations in Asb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Asb14	APN	14	26,633,998 (GRCm39)	missense	probably benign	0.01
IGL01412:Asb14	APN	14	26,637,022 (GRCm39)	missense	probably damaging	1.00
IGL02805:Asb14	APN	14	26,623,144 (GRCm39)	missense	possibly damaging	0.89
IGL03100:Asb14	APN	14	26,625,329 (GRCm39)	missense	probably benign	0.03
R1208:Asb14	UTSW	14	26,622,375 (GRCm39)	splice site	probably benign
R1707:Asb14	UTSW	14	26,623,079 (GRCm39)	missense	probably benign	0.14
R1828:Asb14	UTSW	14	26,633,797 (GRCm39)	missense	possibly damaging	0.67
R3056:Asb14	UTSW	14	26,636,146 (GRCm39)	missense	possibly damaging	0.62
R3926:Asb14	UTSW	14	26,619,695 (GRCm39)	missense	possibly damaging	0.92
R4991:Asb14	UTSW	14	26,637,015 (GRCm39)	missense	probably damaging	1.00
R4996:Asb14	UTSW	14	26,634,073 (GRCm39)	missense	possibly damaging	0.94
R5524:Asb14	UTSW	14	26,622,408 (GRCm39)	missense	possibly damaging	0.94
R7032:Asb14	UTSW	14	26,625,412 (GRCm39)	missense	probably benign	0.06
R7202:Asb14	UTSW	14	26,622,394 (GRCm39)	missense	probably benign	0.13
R7259:Asb14	UTSW	14	26,625,412 (GRCm39)	missense	probably benign	0.06
R7468:Asb14	UTSW	14	26,622,805 (GRCm39)	missense	probably benign	0.10
R7733:Asb14	UTSW	14	26,634,309 (GRCm39)	missense	probably benign	0.00
R7765:Asb14	UTSW	14	26,619,718 (GRCm39)	missense	probably benign	0.03
R8162:Asb14	UTSW	14	26,633,945 (GRCm39)	missense	probably benign	0.01
R8305:Asb14	UTSW	14	26,634,054 (GRCm39)	missense	probably benign	0.01
R8408:Asb14	UTSW	14	26,637,067 (GRCm39)	missense	probably damaging	1.00
R8714:Asb14	UTSW	14	26,623,032 (GRCm39)	missense	possibly damaging	0.65
R9415:Asb14	UTSW	14	26,633,793 (GRCm39)	missense	probably damaging	1.00
R9559:Asb14	UTSW	14	26,637,052 (GRCm39)	missense	possibly damaging	0.65
R9608:Asb14	UTSW	14	26,634,148 (GRCm39)	missense	probably damaging	1.00
Z1088:Asb14	UTSW	14	26,625,305 (GRCm39)	missense	probably benign	0.02
Z1177:Asb14	UTSW	14	26,634,256 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCACTCAGTGTAGGGATAACAG -3'
(R):5'- GAGCTCATAGTTGCCCATCC -3'

Sequencing Primer
(F):5'- GTATCATAAGCAGGTTAACTCTGCAC -3'
(R):5'- CATCCTAAGAGCTATCTGTAGGCAG -3'

Posted On

2016-07-22