Mutagenetix > Incidental Mutation

Incidental Mutation 'R3926:Asb14'

308299

Institutional Source

Beutler Lab

Gene Symbol

Asb14

Ensembl Gene

ENSMUSG00000021898

Gene Name

ankyrin repeat and SOCS box-containing 14

Synonyms

MMRRC Submission

040821-MU

Accession Numbers

Essential gene?

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

Stock #

R3926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26616514-26637215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26619695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 48 (I48T)

Ref Sequence

ENSEMBL: ENSMUSP00000130428 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090337
AA Change: I47T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: I47T

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: ENSMUST00000165929
AA Change: I47T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: I47T

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

noncoding transcript
Transcript: ENSMUST00000167365

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167929
AA Change: I48T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1187

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (55/56)

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. 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Astn1	A	T	1: 158,407,227 (GRCm39)	I559F	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
Bco1	T	C	8: 117,854,211 (GRCm39)	S379P	probably benign	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Bst1	T	C	5: 43,997,796 (GRCm39)	V265A	possibly damaging	Het
Car11	T	C	7: 45,349,915 (GRCm39)	F45L	probably benign	Het
Cdkl2	T	C	5: 92,180,998 (GRCm39)	I214V	possibly damaging	Het
Cluap1	T	A	16: 3,729,398 (GRCm39)	S141T	probably damaging	Het
Col11a1	C	T	3: 113,883,773 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Corin	T	G	5: 72,529,473 (GRCm39)	D294A	probably damaging	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,083 (GRCm39)	L559P	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dennd1b	A	G	1: 139,071,697 (GRCm39)	N397D	probably benign	Het
Evc2	T	A	5: 37,540,574 (GRCm39)	L590Q	probably damaging	Het
Fhl5	A	T	4: 25,214,790 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,110,522 (GRCm39)	Y850C	unknown	Het
Gal3st2b	G	T	1: 93,868,512 (GRCm39)	V246L	probably benign	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lims2	A	G	18: 32,090,996 (GRCm39)	S327G	probably benign	Het
Lynx1	A	G	15: 74,623,205 (GRCm39)	Y76H	probably damaging	Het
Mycbp2	G	A	14: 103,441,936 (GRCm39)	P1943L	probably damaging	Het
Myo3a	A	G	2: 22,455,053 (GRCm39)	D86G	probably damaging	Het
Nkx3-2	T	A	5: 41,919,223 (GRCm39)	Q255L	probably damaging	Het
Notch3	C	T	17: 32,372,531 (GRCm39)	R641H	possibly damaging	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Ogfod3	T	C	11: 121,074,255 (GRCm39)	T265A	probably damaging	Het
Pcdh9	G	T	14: 94,124,246 (GRCm39)	Y641*	probably null	Het
Pcdha9	T	A	18: 37,132,465 (GRCm39)	D511E	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,443 (GRCm39)	Y171C	probably damaging	Het
Pcnx1	T	C	12: 82,005,505 (GRCm39)	C1075R	probably damaging	Het
Pik3c3	C	A	18: 30,444,382 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,621,097 (GRCm39)	T854A	probably benign	Het
Pycr1	T	C	11: 120,532,961 (GRCm39)	T100A	probably benign	Het
Rhof	T	C	5: 123,242,593 (GRCm39)		probably null	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Serpina3f	T	C	12: 104,185,740 (GRCm39)	I315T	possibly damaging	Het
Slc1a6	T	A	10: 78,648,715 (GRCm39)	S479T	possibly damaging	Het
Tmcc1	T	C	6: 116,019,874 (GRCm39)	D166G	probably damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Zfp217	T	C	2: 169,954,438 (GRCm39)	D1038G	probably damaging	Het
Zfp709	A	G	8: 72,644,397 (GRCm39)	R609G	probably damaging	Het
Zfp729a	T	A	13: 67,768,310 (GRCm39)	K640*	probably null	Het
Zfp986	A	T	4: 145,619,090 (GRCm39)		probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	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
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
R5306:Asb14	UTSW	14	26,633,866 (GRCm39)	missense	probably damaging	1.00
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'- CAAGTTTCCAGTCTTCTAAACGC -3'
(R):5'- GGGCATCATATCTTATACACACTTCAG -3'

Sequencing Primer
(F):5'- CGCCATCTGTATTTTTAAGCAGTTG -3'
(R):5'- GTTATCCTCTGGAAAACGCAGCTC -3'

Posted On

2015-04-17