Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Asb16'

565522

Institutional Source

Beutler Lab

Gene Symbol

Asb16

Ensembl Gene

ENSMUSG00000034768

Gene Name

ankyrin repeat and SOCS box-containing 16

Synonyms

MMRRC Submission

045358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102159577-102170280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102159935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 96 (W96L)

Ref Sequence

ENSEMBL: ENSMUSP00000038450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036467] [ENSMUST00000100392] [ENSMUST00000133930]

AlphaFold

Q8VHS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036467
AA Change: W96L

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

SMART Domains

Protein: ENSMUSP00000038450
Gene: ENSMUSG00000034768
AA Change: W96L

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
Blast:ANK	56	85	3e-9	BLAST
ANK	110	139	5.29e0	SMART
ANK	142	171	2.1e-3	SMART
ANK	175	204	5.93e-3	SMART
ANK	209	238	1.4e1	SMART
ANK	242	279	9.21e0	SMART
ANK	283	312	2.18e-1	SMART
Blast:ANK	316	352	7e-17	BLAST
Blast:ANK	354	379	2e-8	BLAST
SOCS_box	408	447	1.26e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100392

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	458	541	4.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133930

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	457	542	3.2e-34	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Bche	T	A	3: 73,607,969 (GRCm39)	T486S	probably benign	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,725,840 (GRCm39)	G136W	probably damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Inpp5e	A	G	2: 26,298,104 (GRCm39)	S166P	probably benign	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,684 (GRCm39)	D208G	probably benign	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tbc1d19	T	A	5: 54,029,618 (GRCm39)	D326E	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		probably null	Het

Other mutations in Asb16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Asb16	APN	11	102,167,575 (GRCm39)	missense	probably damaging	1.00
R1540:Asb16	UTSW	11	102,163,402 (GRCm39)	missense	probably benign	0.37
R1589:Asb16	UTSW	11	102,159,821 (GRCm39)	missense	probably damaging	1.00
R1845:Asb16	UTSW	11	102,167,582 (GRCm39)	missense	possibly damaging	0.54
R2379:Asb16	UTSW	11	102,163,357 (GRCm39)	missense	probably benign	0.00
R3686:Asb16	UTSW	11	102,159,885 (GRCm39)	missense	probably benign	0.19
R4591:Asb16	UTSW	11	102,167,551 (GRCm39)	missense	probably damaging	0.97
R5205:Asb16	UTSW	11	102,159,820 (GRCm39)	missense	probably damaging	1.00
R6505:Asb16	UTSW	11	102,167,303 (GRCm39)	missense	probably damaging	0.99
R6649:Asb16	UTSW	11	102,159,863 (GRCm39)	missense	possibly damaging	0.56
R7436:Asb16	UTSW	11	102,163,481 (GRCm39)	missense	possibly damaging	0.87
R7828:Asb16	UTSW	11	102,168,753 (GRCm39)	missense	probably benign	0.02
R7935:Asb16	UTSW	11	102,168,739 (GRCm39)	missense	probably benign
R8863:Asb16	UTSW	11	102,168,058 (GRCm39)	missense	probably damaging	1.00
R9696:Asb16	UTSW	11	102,159,766 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGGACTGGGAGGAC -3'
(R):5'- AACCAAAGCCAAAATTTACAATCTGT -3'

Sequencing Primer
(F):5'- CAGGAGGAGAGCTGCTGC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2019-06-26