Mutagenetix > Incidental Mutation

Incidental Mutation 'R6597:Asb17'

524921

Institutional Source

Beutler Lab

Gene Symbol

Asb17

Ensembl Gene

ENSMUSG00000038997

Gene Name

ankyrin repeat and SOCS box-containing 17

Synonyms

4933436O18Rik

MMRRC Submission

044721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6597 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

153549884-153559252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153550321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 118 (T118S)

Ref Sequence

ENSEMBL: ENSMUSP00000041293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044089] [ENSMUST00000198849]

AlphaFold

Q8VHP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044089
AA Change: T118S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997
AA Change: T118S

Domain	Start	End	E-Value	Type
ANK	93	123	3.81e2	SMART
ANK	146	176	2.83e0	SMART
SOCS_box	253	294	9.96e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198849
AA Change: T118S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997
AA Change: T118S

Domain	Start	End	E-Value	Type
Blast:ANK	93	123	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200329

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,625,080 (GRCm39)	Y486C	probably damaging	Het
Atl2	T	A	17: 80,160,195 (GRCm39)	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,949,334 (GRCm39)	M242L	probably benign	Het
Btg1	T	A	10: 96,454,182 (GRCm39)	S65T	probably damaging	Het
Cfap54	T	C	10: 92,834,902 (GRCm39)	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,524,144 (GRCm39)	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,995,523 (GRCm39)	D345A	probably benign	Het
Gys2	T	A	6: 142,402,035 (GRCm39)	H268L	probably benign	Het
Hecw1	T	A	13: 14,491,403 (GRCm39)	R117*	probably null	Het
Hoxd10	G	A	2: 74,522,984 (GRCm39)	A221T	probably benign	Het
Hspa13	A	T	16: 75,562,085 (GRCm39)	L38Q	probably damaging	Het
Inava	G	T	1: 136,153,927 (GRCm39)	A87E	probably damaging	Het
Ipo11	A	G	13: 107,002,371 (GRCm39)		probably null	Het
Itgb8	A	G	12: 119,137,133 (GRCm39)	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,003,117 (GRCm39)	I1370F	probably damaging	Het
Macf1	T	C	4: 123,276,485 (GRCm39)	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,170,303 (GRCm39)	T14A	probably benign	Het
Or11g26	T	A	14: 50,753,008 (GRCm39)	C116S	probably benign	Het
Or55b10	A	T	7: 102,143,628 (GRCm39)	I118N	probably damaging	Het
Or5ac22	C	T	16: 59,135,713 (GRCm39)	R19H	probably benign	Het
Or5d37	A	G	2: 87,923,413 (GRCm39)	F289S	probably damaging	Het
Or8b47	A	T	9: 38,435,300 (GRCm39)	I91F	probably benign	Het
Or9q1	T	A	19: 13,805,821 (GRCm39)		probably benign	Het
Patl2	T	A	2: 122,016,645 (GRCm39)		probably benign	Het
Pcdhga7	T	C	18: 37,850,059 (GRCm39)	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,117,058 (GRCm39)	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,607,984 (GRCm39)	V22A	unknown	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Prl3b1	G	A	13: 27,431,957 (GRCm39)		probably null	Het
Rabgef1	G	A	5: 130,219,885 (GRCm39)		probably null	Het
Rhot2	A	T	17: 26,059,886 (GRCm39)	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,482,381 (GRCm39)	W286R	probably benign	Het
Rrs1	A	G	1: 9,616,601 (GRCm39)	T285A	probably damaging	Het
Shc3	T	A	13: 51,597,009 (GRCm39)	D338V	possibly damaging	Het
Siglech	A	T	7: 55,418,211 (GRCm39)	M60L	probably benign	Het
Slc12a6	G	T	2: 112,183,280 (GRCm39)	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,462,681 (GRCm39)	G507D	probably damaging	Het
Slf1	A	G	13: 77,197,248 (GRCm39)	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,873,871 (GRCm39)	M1221I	probably benign	Het
Srgap1	T	C	10: 121,628,276 (GRCm39)	N899D	probably benign	Het
Stag1	G	A	9: 100,769,473 (GRCm39)	M529I	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tmppe	A	T	9: 114,234,312 (GRCm39)	M204L	probably benign	Het
Tpsg1	G	A	17: 25,588,271 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,628,315 (GRCm39)	V6288A	probably benign	Het
Ttn	A	T	2: 76,723,444 (GRCm39)		probably benign	Het
Twsg1	C	A	17: 66,244,799 (GRCm39)	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,914,450 (GRCm39)	T672A	probably damaging	Het
Vps36	A	G	8: 22,692,320 (GRCm39)	I66V	probably benign	Het
Xrcc4	A	T	13: 90,149,048 (GRCm39)	D157E	probably benign	Het
Zbbx	T	A	3: 75,043,761 (GRCm39)	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,259,297 (GRCm39)	I522L	probably benign	Het
Zscan20	T	C	4: 128,479,539 (GRCm39)	N984S	probably damaging	Het

Other mutations in Asb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0078:Asb17	UTSW	3	153,550,301 (GRCm39)	missense	probably damaging	1.00
R0761:Asb17	UTSW	3	153,550,052 (GRCm39)	missense	probably damaging	1.00
R1543:Asb17	UTSW	3	153,550,148 (GRCm39)	missense	probably damaging	1.00
R1557:Asb17	UTSW	3	153,556,570 (GRCm39)	missense	probably benign	0.01
R1562:Asb17	UTSW	3	153,559,143 (GRCm39)	missense	probably benign	0.01
R1678:Asb17	UTSW	3	153,550,004 (GRCm39)	missense	probably damaging	1.00
R1911:Asb17	UTSW	3	153,550,138 (GRCm39)	missense	probably benign	0.00
R2155:Asb17	UTSW	3	153,550,322 (GRCm39)	missense	probably damaging	1.00
R4934:Asb17	UTSW	3	153,556,336 (GRCm39)	missense	possibly damaging	0.60
R5032:Asb17	UTSW	3	153,550,175 (GRCm39)	missense	probably damaging	1.00
R7404:Asb17	UTSW	3	153,550,447 (GRCm39)	splice site	probably null
R8714:Asb17	UTSW	3	153,556,313 (GRCm39)	missense	probably damaging	1.00
R8716:Asb17	UTSW	3	153,559,151 (GRCm39)	missense	probably damaging	1.00
X0050:Asb17	UTSW	3	153,556,577 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATACCACTGCTATGAACCCAGG -3'
(R):5'- TTGATAGTGCGCACTACAGG -3'

Sequencing Primer
(F):5'- CCTGGCAAAAATCCTGAGGTATGTTG -3'
(R):5'- TTGATAGTGCGCACTACAGGTAAAAC -3'

Posted On

2018-06-22