Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Asb15'

591626

Institutional Source

Beutler Lab

Gene Symbol

Asb15

Ensembl Gene

ENSMUSG00000029685

Gene Name

ankyrin repeat and SOCS box-containing 15

Synonyms

4930400E23Rik

MMRRC Submission

045737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24528143-24573163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24566089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 347 (D347E)

Ref Sequence

ENSEMBL: ENSMUSP00000031696 (fasta)

Gene Model

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

AlphaFold

Q8VHS6

Predicted Effect

probably benign
Transcript: ENSMUST00000031696
AA Change: D347E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: D347E

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

probably benign
Transcript: ENSMUST00000117688
AA Change: D347E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: D347E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Adss1	T	A	12: 112,606,172 (GRCm39)	V456E	probably damaging	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694 (GRCm39)	R270C	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,801,438 (GRCm39)	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,807,836 (GRCm39)	L443P	probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,398,391 (GRCm39)	D182E	probably damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or13p8	T	A	4: 118,583,504 (GRCm39)	F20Y	probably damaging	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	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
IGL00694:Asb15	APN	6	24,570,663 (GRCm39)	missense	possibly damaging	0.79
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTGAAATACCTTATCCCAG -3'
(R):5'- GCATACTGAATGGCACTGGG -3'

Sequencing Primer
(F):5'- TGAAATACCTTATCCCAGTAACATCC -3'
(R):5'- AATTGACGTTAGCCCCATAGG -3'

Posted On

2019-11-12