Mutagenetix > Incidental Mutation

Incidental Mutation 'R4892:Apol11a'

377358

Institutional Source

Beutler Lab

Gene Symbol

Apol11a

Ensembl Gene

ENSMUSG00000091650

Gene Name

apolipoprotein L 11a

Synonyms

EG626615

MMRRC Submission

042497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77392329-77402074 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 77401190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 226 (K226*)

Ref Sequence

ENSEMBL: ENSMUSP00000132565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172191]

AlphaFold

E9PZG0

Predicted Effect

probably null
Transcript: ENSMUST00000172191
AA Change: K226*

SMART Domains

Protein: ENSMUSP00000132565
Gene: ENSMUSG00000091650
AA Change: K226*

Domain	Start	End	E-Value	Type
Pfam:ApoL	28	328	1e-90	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,236,431 (GRCm39)	T1128A	probably benign	Het
Atp4a	A	G	7: 30,411,899 (GRCm39)	M45V	probably benign	Het
Babam1	T	A	8: 71,855,696 (GRCm39)	M263K	probably benign	Het
Capn11	GACA	GA	17: 45,944,023 (GRCm39)		probably null	Het
Ccdc190	C	A	1: 169,757,678 (GRCm39)	L46I	possibly damaging	Het
Cep131	C	T	11: 119,958,883 (GRCm39)	R717H	probably damaging	Het
Cpt1c	A	G	7: 44,609,012 (GRCm39)	F770L	probably benign	Het
Dhx30	A	T	9: 109,914,924 (GRCm39)		probably null	Het
Dido1	G	A	2: 180,316,822 (GRCm39)	Q662*	probably null	Het
Dip2a	T	C	10: 76,116,593 (GRCm39)	E910G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fmo3	T	A	1: 162,796,300 (GRCm39)	I91F	probably benign	Het
Gdap1	A	C	1: 17,230,218 (GRCm39)	D217A	possibly damaging	Het
Grm1	T	C	10: 10,595,331 (GRCm39)	S766G	possibly damaging	Het
Kat8	T	A	7: 127,514,710 (GRCm39)	I123N	possibly damaging	Het
Kcnt2	C	A	1: 140,440,763 (GRCm39)	S23*	probably null	Het
Krt73	G	A	15: 101,704,244 (GRCm39)	T432I	probably damaging	Het
Lgals9	T	A	11: 78,856,909 (GRCm39)	I223L	probably benign	Het
Mpo	T	A	11: 87,693,507 (GRCm39)	N48K	probably benign	Het
Myo9a	T	G	9: 59,731,525 (GRCm39)	H632Q	probably damaging	Het
Or2y1c	C	A	11: 49,361,043 (GRCm39)	Q22K	probably benign	Het
Or9s27	A	G	1: 92,516,643 (GRCm39)	N197S	probably benign	Het
Prelid2	A	G	18: 42,084,209 (GRCm39)	F11S	possibly damaging	Het
Setd1a	G	T	7: 127,377,696 (GRCm39)	V57L	probably damaging	Het
Sgip1	A	G	4: 102,823,431 (GRCm39)	D704G	probably damaging	Het
Spryd3	T	C	15: 102,026,537 (GRCm39)	E378G	probably benign	Het
Stk17b	A	T	1: 53,810,770 (GRCm39)	Y112N	probably damaging	Het
Syndig1	A	T	2: 149,741,811 (GRCm39)	K132N	probably damaging	Het
Tcf20	C	T	15: 82,738,400 (GRCm39)	R1017Q	possibly damaging	Het
Tenm3	T	A	8: 48,729,896 (GRCm39)	D1370V	probably damaging	Het
Tnrc6a	C	T	7: 122,769,134 (GRCm39)	T308I	probably damaging	Het
Ttc29	T	C	8: 79,060,274 (GRCm39)	V398A	probably damaging	Het
Ubr4	A	G	4: 139,155,828 (GRCm39)	T2218A	probably benign	Het

Other mutations in Apol11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Apol11a	APN	15	77,401,307 (GRCm39)	missense	probably benign	0.03
IGL03112:Apol11a	APN	15	77,401,509 (GRCm39)	missense	probably damaging	0.99
R1296:Apol11a	UTSW	15	77,395,219 (GRCm39)	splice site	probably benign
R1576:Apol11a	UTSW	15	77,401,131 (GRCm39)	missense	probably damaging	1.00
R1875:Apol11a	UTSW	15	77,397,766 (GRCm39)	missense	possibly damaging	0.81
R2517:Apol11a	UTSW	15	77,401,395 (GRCm39)	missense	probably benign	0.00
R4614:Apol11a	UTSW	15	77,400,772 (GRCm39)	missense	probably benign	0.08
R5027:Apol11a	UTSW	15	77,401,153 (GRCm39)	missense	probably damaging	1.00
R5334:Apol11a	UTSW	15	77,400,953 (GRCm39)	missense	probably benign	0.14
R6208:Apol11a	UTSW	15	77,401,241 (GRCm39)	missense	probably damaging	0.99
R7883:Apol11a	UTSW	15	77,400,774 (GRCm39)	missense	probably damaging	1.00
R8868:Apol11a	UTSW	15	77,401,209 (GRCm39)	missense	probably damaging	1.00
R9145:Apol11a	UTSW	15	77,397,778 (GRCm39)	missense	probably benign	0.03
R9674:Apol11a	UTSW	15	77,401,347 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGTCTGGCACTCTCAGCATC -3'
(R):5'- GGTTCACAAGGTCATACACATCC -3'

Sequencing Primer
(F):5'- TCTGGGAGCAACATCATCTG -3'
(R):5'- TCCCATCCAAGGAGCACACTTG -3'

Posted On

2016-03-17