Mutagenetix > Incidental Mutation

Incidental Mutation 'R2517:Apol11a'

253996

Institutional Source

Beutler Lab

Gene Symbol

Apol11a

Ensembl Gene

ENSMUSG00000091650

Gene Name

apolipoprotein L 11a

Synonyms

EG626615

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2517 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77392329-77402074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77401395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 294 (D294V)

Ref Sequence

ENSEMBL: ENSMUSP00000132565 (fasta)

Gene Model

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

AlphaFold

E9PZG0

Predicted Effect

probably benign
Transcript: ENSMUST00000172191
AA Change: D294V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132565
Gene: ENSMUSG00000091650
AA Change: D294V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Drg2	T	C	11: 60,358,954 (GRCm39)	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Frs3	G	A	17: 48,013,997 (GRCm39)	R230Q	probably benign	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Msi1	A	G	5: 115,583,517 (GRCm39)	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Shank2	A	G	7: 143,606,042 (GRCm39)	N75S	possibly damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,032,302 (GRCm39)	S59A	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	probably damaging	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
R4614:Apol11a	UTSW	15	77,400,772 (GRCm39)	missense	probably benign	0.08
R4892:Apol11a	UTSW	15	77,401,190 (GRCm39)	nonsense	probably null
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'- GTTGCAGATTTAGCCGAAGCC -3'
(R):5'- CCTATAAGCATCATGTCCTCTGAAC -3'

Sequencing Primer
(F):5'- GCAGATTTAGCCGAAGCCTTTAAAAC -3'
(R):5'- TCTGAACTCTAAGCTGCTTAGG -3'

Posted On

2014-12-04