Mutagenetix > Incidental Mutations

Incidental Mutation 'R8005:Apol7e'

616595

Institutional Source

Beutler Lab

Gene Symbol

Apol7e

Ensembl Gene

ENSMUSG00000071716

Gene Name

apolipoprotein L 7e

Synonyms

ENSMUSG00000071716

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77698857-77719285 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 77718077 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 292 (Q292*)

Ref Sequence

ENSEMBL: ENSMUSP00000094085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096358]

Predicted Effect

probably null
Transcript: ENSMUST00000096358
AA Change: Q292*

SMART Domains

Protein: ENSMUSP00000094085
Gene: ENSMUSG00000071716
AA Change: Q292*

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	82	2.3e-14	PFAM
Pfam:ApoL	77	367	6.9e-121	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,017,000	D294G	probably benign	Het
Ak8	A	T	2: 28,712,302	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,438,722	A154E	possibly damaging	Het
Anks1	A	G	17: 28,059,367	D1175G	probably damaging	Het
Ano4	T	A	10: 88,971,321	L799F	probably benign	Het
Aplp1	T	C	7: 30,436,045		probably null	Het
Apob	A	T	12: 8,009,744	H2742L	probably benign	Het
Atp2b1	G	A	10: 98,994,799	G374D	probably damaging	Het
B020004J07Rik	A	G	4: 101,837,251	V145A	probably damaging	Het
B4galt5	A	G	2: 167,301,464	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,916,197	T620A	probably benign	Het
Bco2	T	A	9: 50,538,913	D329V	probably damaging	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Copg2	T	A	6: 30,896,697	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,258,254	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,717,510	G1121C	probably damaging	Het
Fam208b	C	T	13: 3,575,681	S1423N	probably benign	Het
Gas2l1	A	T	11: 5,061,552	S426T	probably benign	Het
Gm17783	T	C	16: 45,532,037		probably benign	Het
Gm9195	T	A	14: 72,426,400	I2740F	probably benign	Het
Irgm1	A	G	11: 48,866,390	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Ly75	A	T	2: 60,332,934	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,185,948	H432R	probably damaging	Het
Nsrp1	A	T	11: 77,045,786	M528K	probably damaging	Het
Nup54	T	C	5: 92,428,147	I162V	probably benign	Het
Obsl1	T	A	1: 75,505,452	N258I	probably damaging	Het
Olfr10	G	T	11: 49,318,141	M198I	probably benign	Het
Olfr350	A	G	2: 36,850,144	T33A	probably benign	Het
Olfr478	T	C	7: 108,032,263	R27G	possibly damaging	Het
Olfr498	T	C	7: 108,465,486	V54A	probably benign	Het
Pax2	G	A	19: 44,760,889	V20M	probably damaging	Het
Pigb	A	T	9: 73,015,264	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pik3c2a	T	C	7: 116,418,036	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,622,069	D61V	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prss46	A	G	9: 110,856,076	D256G	probably benign	Het
Rims1	G	T	1: 22,412,213	D196E		Het
Sbf1	A	G	15: 89,294,205	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,469,307	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,539,395	M51L	probably damaging	Het
Slitrk1	T	C	14: 108,913,265	I5V	probably benign	Het
Spg20	T	A	3: 55,117,352	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303	R119K	possibly damaging	Het
Tbcc	T	C	17: 46,890,760	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,719,208	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,211,944	I170V	probably benign	Het
Ticrr	T	G	7: 79,694,048	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,080,477	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821	S771P	probably damaging	Het
Tsc2	G	A	17: 24,599,596	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,412,630	Y1175N	probably damaging	Het
Usp25	G	A	16: 77,077,068	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,344,150	Y58*	probably null	Het
Wt1	T	C	2: 105,127,444		probably null	Het
Zfp735	A	T	11: 73,712,314	K695*	probably null	Het
Zkscan14	A	G	5: 145,195,758	F321S	possibly damaging	Het
Zswim9	T	C	7: 13,261,138	E364G	probably damaging	Het

Other mutations in Apol7e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Apol7e	APN	15	77714348	critical splice acceptor site	probably null
R0864:Apol7e	UTSW	15	77717793	missense	probably damaging	1.00
R1467:Apol7e	UTSW	15	77717766	missense	probably damaging	1.00
R1467:Apol7e	UTSW	15	77717766	missense	probably damaging	1.00
R1585:Apol7e	UTSW	15	77717829	missense	probably damaging	0.99
R1897:Apol7e	UTSW	15	77717894	missense	probably benign
R2047:Apol7e	UTSW	15	77717610	missense	probably benign	0.06
R2311:Apol7e	UTSW	15	77718036	missense	probably benign	0.14
R2895:Apol7e	UTSW	15	77714467	missense	possibly damaging	0.65
R3809:Apol7e	UTSW	15	77718062	missense	probably benign	0.05
R3842:Apol7e	UTSW	15	77717589	missense	probably damaging	1.00
R5351:Apol7e	UTSW	15	77718311	makesense	probably null
R5629:Apol7e	UTSW	15	77718076	missense	probably benign	0.08
R5853:Apol7e	UTSW	15	77714467	missense	probably benign
R5882:Apol7e	UTSW	15	77718247	missense	probably benign
R6337:Apol7e	UTSW	15	77714382	missense	possibly damaging	0.80
R6826:Apol7e	UTSW	15	77718291	missense	probably damaging	0.99
R7422:Apol7e	UTSW	15	77714352	nonsense	probably null
R7458:Apol7e	UTSW	15	77714404	missense	probably benign	0.20
R7470:Apol7e	UTSW	15	77717943	missense	probably benign
R7492:Apol7e	UTSW	15	77717456	missense	possibly damaging	0.95
R8119:Apol7e	UTSW	15	77717756	missense	probably damaging	1.00
R8190:Apol7e	UTSW	15	77717807	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- AAGTTTTGGATCAGAGTGGTCC -3'
(R):5'- CTGTCATGGACCCGAATGAG -3'

Sequencing Primer
(F):5'- ATCAGAGTGGTCCCAGACTTC -3'
(R):5'- CGAATGAGCTCCTGTAACTTCTG -3'

Posted On

2020-01-23