Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00694:Asb15'

9076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asb15

Ensembl Gene

ENSMUSG00000029685

Gene Name

ankyrin repeat and SOCS box-containing 15

Synonyms

4930400E23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00694

Quality Score

Status

Chromosome

Chromosomal Location

24528143-24573163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24570663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 547 (R547L)

Ref Sequence

ENSEMBL: ENSMUSP00000112965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031696] [ENSMUST00000117688]

AlphaFold

Q8VHS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031696
AA Change: R547L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: R547L

Domain	Start	End	E-Value	Type
ANK	110	139	1.59e-3	SMART
ANK	143	172	2.97e-3	SMART
ANK	176	205	1.93e-2	SMART
ANK	209	238	2.1e-3	SMART
ANK	242	273	5.01e-1	SMART
ANK	275	304	2.63e2	SMART
ANK	307	336	1.99e-4	SMART
ANK	349	378	5.24e-4	SMART
ANK	379	408	1.27e-2	SMART
ANK	417	444	2.35e3	SMART
SOCS_box	534	576	2.34e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117688
AA Change: R547L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: R547L

Domain	Start	End	E-Value	Type
ANK	110	139	1.59e-3	SMART
ANK	143	172	2.97e-3	SMART
ANK	176	205	1.93e-2	SMART
ANK	209	238	2.1e-3	SMART
ANK	242	273	5.01e-1	SMART
ANK	275	304	2.63e2	SMART
ANK	307	336	1.99e-4	SMART
ANK	349	378	5.24e-4	SMART
ANK	379	408	1.27e-2	SMART
ANK	417	444	2.35e3	SMART
SOCS_box	534	576	2.34e-11	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,145,033 (GRCm39)		probably benign	Het
Aqr	A	T	2: 113,982,006 (GRCm39)	D259E	probably damaging	Het
Arl14ep	A	T	2: 106,797,537 (GRCm39)	F153L	probably damaging	Het
Chd8	A	C	14: 52,455,427 (GRCm39)	V1020G	probably damaging	Het
Coq2	C	T	5: 100,803,180 (GRCm39)	S370N	probably benign	Het
Crebl2	T	A	6: 134,826,158 (GRCm39)	S36R	probably damaging	Het
Cyp2c29	A	T	19: 39,310,079 (GRCm39)	T263S	possibly damaging	Het
Edem1	T	C	6: 108,818,562 (GRCm39)	I190T	possibly damaging	Het
Fbn2	T	G	18: 58,170,881 (GRCm39)	E2170A	possibly damaging	Het
Gak	T	G	5: 108,761,500 (GRCm39)	*129C	probably null	Het
Hc	T	C	2: 34,881,641 (GRCm39)	I1436V	probably benign	Het
Kmt2c	A	T	5: 25,498,159 (GRCm39)	F534I	probably damaging	Het
Mfhas1	G	A	8: 36,057,925 (GRCm39)	R800Q	probably benign	Het
Npat	A	G	9: 53,474,817 (GRCm39)	T870A	probably benign	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Potegl	A	T	2: 23,120,180 (GRCm39)	Q192L	probably damaging	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Slc25a26	T	A	6: 94,511,204 (GRCm39)	I127N	probably damaging	Het
Spag1	A	T	15: 36,227,317 (GRCm39)	E658V	possibly damaging	Het
St3gal2	A	T	8: 111,696,213 (GRCm39)	H266L	probably damaging	Het
Sult6b2	A	G	6: 142,736,015 (GRCm39)	I193T	possibly damaging	Het
Tas2r120	T	C	6: 132,634,238 (GRCm39)	F107L	probably benign	Het
Thoc1	A	G	18: 9,989,744 (GRCm39)	D475G	possibly damaging	Het
Tpo	T	A	12: 30,155,993 (GRCm39)	R169S	probably damaging	Het
Zhx2	A	G	15: 57,685,156 (GRCm39)	N175S	probably benign	Het

Other mutations in Asb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Asb15	APN	6	24,558,642 (GRCm39)	splice site	probably benign
IGL00557:Asb15	APN	6	24,558,649 (GRCm39)	missense	probably benign
IGL01137:Asb15	APN	6	24,556,521 (GRCm39)	missense	probably benign
IGL01681:Asb15	APN	6	24,567,137 (GRCm39)	missense	probably damaging	0.98
IGL01691:Asb15	APN	6	24,567,271 (GRCm39)	missense	probably benign	0.02
IGL01791:Asb15	APN	6	24,567,211 (GRCm39)	missense	probably damaging	1.00
IGL01989:Asb15	APN	6	24,565,943 (GRCm39)	missense	probably damaging	1.00
IGL02480:Asb15	APN	6	24,570,745 (GRCm39)	missense	probably damaging	0.99
IGL02541:Asb15	APN	6	24,566,265 (GRCm39)	missense	probably damaging	1.00
IGL02707:Asb15	APN	6	24,558,787 (GRCm39)	splice site	probably benign
IGL03090:Asb15	APN	6	24,567,185 (GRCm39)	missense	possibly damaging	0.52
IGL03331:Asb15	APN	6	24,556,523 (GRCm39)	missense	possibly damaging	0.70
3-1:Asb15	UTSW	6	24,566,220 (GRCm39)	missense	probably benign	0.00
BB002:Asb15	UTSW	6	24,562,723 (GRCm39)	missense	probably benign	0.00
BB012:Asb15	UTSW	6	24,562,723 (GRCm39)	missense	probably benign	0.00
R0196:Asb15	UTSW	6	24,564,392 (GRCm39)	missense	probably damaging	0.99
R0603:Asb15	UTSW	6	24,556,556 (GRCm39)	missense	probably damaging	1.00
R0650:Asb15	UTSW	6	24,566,163 (GRCm39)	missense	probably damaging	1.00
R1114:Asb15	UTSW	6	24,567,176 (GRCm39)	missense	probably damaging	1.00
R1170:Asb15	UTSW	6	24,562,486 (GRCm39)	splice site	probably benign
R1365:Asb15	UTSW	6	24,567,269 (GRCm39)	missense	possibly damaging	0.95
R2323:Asb15	UTSW	6	24,556,600 (GRCm39)	missense	probably benign	0.01
R3147:Asb15	UTSW	6	24,566,258 (GRCm39)	missense	probably damaging	1.00
R3148:Asb15	UTSW	6	24,566,258 (GRCm39)	missense	probably damaging	1.00
R4762:Asb15	UTSW	6	24,567,236 (GRCm39)	missense	possibly damaging	0.81
R4771:Asb15	UTSW	6	24,570,621 (GRCm39)	missense	probably damaging	0.99
R4915:Asb15	UTSW	6	24,566,292 (GRCm39)	missense	probably damaging	0.96
R5369:Asb15	UTSW	6	24,562,563 (GRCm39)	missense	probably benign	0.00
R5415:Asb15	UTSW	6	24,570,690 (GRCm39)	missense	probably benign	0.05
R5781:Asb15	UTSW	6	24,564,377 (GRCm39)	missense	probably benign	0.11
R6649:Asb15	UTSW	6	24,562,632 (GRCm39)	missense	probably benign
R6653:Asb15	UTSW	6	24,562,632 (GRCm39)	missense	probably benign
R6781:Asb15	UTSW	6	24,558,674 (GRCm39)	missense	probably benign
R6984:Asb15	UTSW	6	24,566,336 (GRCm39)	missense	probably benign	0.17
R7297:Asb15	UTSW	6	24,566,462 (GRCm39)	missense	probably damaging	0.96
R7340:Asb15	UTSW	6	24,558,513 (GRCm39)	missense	probably benign	0.00
R7419:Asb15	UTSW	6	24,556,555 (GRCm39)	missense	probably benign	0.08
R7549:Asb15	UTSW	6	24,559,029 (GRCm39)	splice site	probably null
R7662:Asb15	UTSW	6	24,566,089 (GRCm39)	missense	probably benign	0.08
R7717:Asb15	UTSW	6	24,559,251 (GRCm39)	missense	probably benign
R7767:Asb15	UTSW	6	24,559,281 (GRCm39)	missense	probably benign
R7781:Asb15	UTSW	6	24,562,644 (GRCm39)	missense	probably benign	0.01
R7797:Asb15	UTSW	6	24,562,505 (GRCm39)	missense	probably damaging	0.98
R7847:Asb15	UTSW	6	24,564,266 (GRCm39)	missense	probably damaging	1.00
R7925:Asb15	UTSW	6	24,562,723 (GRCm39)	missense	probably benign	0.00
R8055:Asb15	UTSW	6	24,556,565 (GRCm39)	missense	probably benign	0.05
R8304:Asb15	UTSW	6	24,559,296 (GRCm39)	missense	possibly damaging	0.89
R8694:Asb15	UTSW	6	24,570,666 (GRCm39)	missense	probably benign	0.00
R9268:Asb15	UTSW	6	24,566,298 (GRCm39)	missense	probably benign
Z1176:Asb15	UTSW	6	24,566,330 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06