Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Apol9b'

478614

Institutional Source

Beutler Lab

Gene Symbol

Apol9b

Ensembl Gene

ENSMUSG00000068246

Gene Name

apolipoprotein L 9b

Synonyms

2310016F22Rik

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77613248-77620582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77620058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000155314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109775] [ENSMUST00000230377] [ENSMUST00000230742] [ENSMUST00000230979]

AlphaFold

Q8C7I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000109775
AA Change: S285P

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

SMART Domains

Protein: ENSMUSP00000105397
Gene: ENSMUSG00000068246
AA Change: S285P

Domain	Start	End	E-Value	Type
Pfam:ApoL	1	310	5.2e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230156

Predicted Effect

probably benign
Transcript: ENSMUST00000230377

Predicted Effect

probably benign
Transcript: ENSMUST00000230742

Predicted Effect

probably damaging
Transcript: ENSMUST00000230979
AA Change: S285P

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casz1	C	A	4: 149,019,041 (GRCm39)	N447K	probably damaging	Het
Cltb	T	C	13: 54,754,480 (GRCm39)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm39)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,328,030 (GRCm39)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,288,568 (GRCm39)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,357,654 (GRCm39)	P283T	probably benign	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm39)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,740,261 (GRCm39)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,099,922 (GRCm39)	H256R	probably damaging	Het
Il19	T	A	1: 130,863,718 (GRCm39)	D16V	probably damaging	Het
Lats2	A	T	14: 57,971,632 (GRCm39)	N14K	probably damaging	Het
Mill2	G	T	7: 18,590,373 (GRCm39)	S151I	probably benign	Het
Ncapg2	G	A	12: 116,390,227 (GRCm39)	R392H	probably damaging	Het
Nop56	T	C	2: 130,118,545 (GRCm39)		probably null	Het
Or14j8	A	T	17: 38,262,967 (GRCm39)	V316D	probably benign	Het
Or2bd2	A	T	7: 6,443,613 (GRCm39)	H238L	probably benign	Het
Or5p5	A	T	7: 107,414,219 (GRCm39)	I143F	probably benign	Het
Pde1a	T	C	2: 79,695,406 (GRCm39)	R446G	probably benign	Het
Pes1	T	A	11: 3,928,004 (GRCm39)	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,045,225 (GRCm39)	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,346,112 (GRCm39)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,694,685 (GRCm39)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,053,826 (GRCm39)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 120,221,044 (GRCm39)		probably null	Het
Slitrk6	A	G	14: 110,987,958 (GRCm39)	V583A	probably benign	Het
Sptbn5	G	T	2: 119,880,573 (GRCm39)		noncoding transcript	Het
Stab1	A	T	14: 30,880,950 (GRCm39)	I614N	probably damaging	Het
Tgm6	A	G	2: 129,983,148 (GRCm39)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,734 (GRCm39)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,461,272 (GRCm39)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,453 (GRCm39)	I610K	probably damaging	Het

Other mutations in Apol9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0543:Apol9b	UTSW	15	77,619,840 (GRCm39)	missense	probably damaging	0.98
R0591:Apol9b	UTSW	15	77,619,830 (GRCm39)	missense	possibly damaging	0.60
R1754:Apol9b	UTSW	15	77,619,962 (GRCm39)	missense	probably benign	0.02
R2164:Apol9b	UTSW	15	77,619,639 (GRCm39)	missense	probably benign
R4817:Apol9b	UTSW	15	77,620,088 (GRCm39)	missense	possibly damaging	0.71
R5372:Apol9b	UTSW	15	77,619,920 (GRCm39)	missense	probably benign	0.35
R5444:Apol9b	UTSW	15	77,619,963 (GRCm39)	missense	probably damaging	0.96
R6303:Apol9b	UTSW	15	77,619,504 (GRCm39)	missense	probably damaging	1.00
R6304:Apol9b	UTSW	15	77,619,504 (GRCm39)	missense	probably damaging	1.00
R6332:Apol9b	UTSW	15	77,619,746 (GRCm39)	splice site	probably null
R7368:Apol9b	UTSW	15	77,620,134 (GRCm39)	missense	possibly damaging	0.82
R9481:Apol9b	UTSW	15	77,619,656 (GRCm39)	missense	probably benign	0.08
R9732:Apol9b	UTSW	15	77,619,566 (GRCm39)	missense	possibly damaging	0.90
RF016:Apol9b	UTSW	15	77,619,714 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTAGAAGAAGATGCCAGGATCC -3'
(R):5'- TCTCACCTGATTGTGCTGTG -3'

Sequencing Primer
(F):5'- GATCCTGGCCACCACAGGAAG -3'
(R):5'- TACACACTGGGTCTCTCGGAC -3'

Posted On

2017-06-26