Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Asb17'

391738

Institutional Source

Beutler Lab

Gene Symbol

Asb17

Ensembl Gene

ENSMUSG00000038997

Gene Name

ankyrin repeat and SOCS box-containing 17

Synonyms

4933436O18Rik

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

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

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153549884-153559252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153550175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 69 (D69V)

Ref Sequence

ENSEMBL: ENSMUSP00000142678 (fasta)

Gene Model

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

AlphaFold

Q8VHP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044089
AA Change: D69V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997
AA Change: D69V

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: D69V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997
AA Change: D69V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200329

Meta Mutation Damage Score

0.3221

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gmps	A	G	3: 63,897,746 (GRCm39)	K233E	probably benign	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,760,142 (GRCm39)	I226V	probably benign	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspa4	T	G	11: 53,179,950 (GRCm39)	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or5a1	T	A	19: 12,097,420 (GRCm39)	I219F	probably benign	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Sf3a3	T	C	4: 124,618,959 (GRCm39)	S307P	probably benign	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	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
R6597:Asb17	UTSW	3	153,550,321 (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'- TGCCGGAAGACGTCTTTTCC -3'
(R):5'- TCTGGACAAAGCATGAGATTACC -3'

Sequencing Primer
(F):5'- CCGGAAGACGTCTTTTCCAAGAAG -3'
(R):5'- TGAGATTACCTCCATATCAGCG -3'

Posted On

2016-06-06