Mutagenetix > Incidental Mutations

Incidental Mutation 'R7458:Apol7e'

578271

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: 0.071) question?

Stock #

R7458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77698857-77719285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77714404 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 23 (T23I)

Ref Sequence

ENSEMBL: ENSMUSP00000094085 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096358
AA Change: T23I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094085
Gene: ENSMUSG00000071716
AA Change: T23I

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,190,644	V501M	probably benign	Het
3632451O06Rik	T	C	14: 49,682,739	Y711C	probably damaging	Het
Abca13	T	C	11: 9,290,777	F880S	possibly damaging	Het
AI182371	T	A	2: 35,086,504	R206S	possibly damaging	Het
Akr1a1	A	T	4: 116,637,817	M286K	possibly damaging	Het
Aldh8a1	A	G	10: 21,395,593	E406G	possibly damaging	Het
Ambra1	T	A	2: 91,917,684	V1255D	probably benign	Het
Boc	T	C	16: 44,486,756	E1034G		Het
Bricd5	T	C	17: 24,474,502	I39T	probably damaging	Het
Ccne1	T	C	7: 38,100,671	T163A	probably damaging	Het
Cct7	T	C	6: 85,459,996	V72A	probably benign	Het
Cdh3	A	G	8: 106,537,147	D199G	probably damaging	Het
Clip1	T	G	5: 123,640,546	E438A	probably damaging	Het
Col4a4	T	C	1: 82,498,948	I553M	unknown	Het
Csmd1	A	T	8: 15,953,738	N2605K	probably damaging	Het
Dnajc10	T	A	2: 80,324,750		probably null	Het
Fbn1	T	A	2: 125,319,116	D2168V	probably benign	Het
G2e3	T	A	12: 51,365,507	N443K	possibly damaging	Het
Gak	T	C	5: 108,583,074	D822G	probably benign	Het
Gm9493	A	G	19: 23,619,913	I58V	probably benign	Het
Gpr65	T	G	12: 98,276,065	S326A	probably damaging	Het
Irs2	T	C	8: 11,007,739	E231G	probably damaging	Het
Itga1	T	C	13: 114,986,266	D718G	probably benign	Het
Itih1	T	C	14: 30,943,266	M1V	probably null	Het
Lgr5	A	G	10: 115,457,755		probably null	Het
Lipn	A	G	19: 34,071,842	N136S	probably benign	Het
Lrrc37a	G	A	11: 103,497,432	T2389I	unknown	Het
Myo7b	G	A	18: 31,988,551	A767V	possibly damaging	Het
Necab1	A	T	4: 15,111,244	S61R	possibly damaging	Het
Olfr1031	A	G	2: 85,992,650	T278A	probably damaging	Het
Phyhip	G	A	14: 70,461,820	R21H	probably damaging	Het
Pls1	G	A	9: 95,785,507	T116I	probably damaging	Het
Pnn	C	A	12: 59,072,414	S594R	unknown	Het
Psen1	T	A	12: 83,714,766	I114N	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Slc12a7	T	A	13: 73,785,069	V82E	probably damaging	Het
Slc25a44	A	G	3: 88,416,061	I246T	probably benign	Het
Slc2a13	T	A	15: 91,412,187	Y308F	probably benign	Het
Sntb2	C	A	8: 106,936,298	A166E	possibly damaging	Het
Tas2r135	T	A	6: 42,405,947	V140D	possibly damaging	Het
Tdrd6	T	C	17: 43,625,046	T1704A	probably benign	Het
Txndc12	A	G	4: 108,861,409	D159G	probably benign	Het
Ubash3a	T	C	17: 31,208,165	L16P	probably benign	Het
Usp4	T	C	9: 108,367,856	L331P	probably damaging	Het
Vmn2r108	T	C	17: 20,472,270	D108G	probably benign	Het
Vmn2r58	C	A	7: 41,837,699	A591S	probably benign	Het
Wdpcp	T	C	11: 21,748,919	I566T	probably damaging	Het
Zfp866	T	A	8: 69,765,552	K473*	probably null	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
R7470:Apol7e	UTSW	15	77717943	missense	probably benign
R7492:Apol7e	UTSW	15	77717456	missense	possibly damaging	0.95
R8005:Apol7e	UTSW	15	77718077	nonsense	probably null
R8119:Apol7e	UTSW	15	77717756	missense	probably damaging	1.00
R8190:Apol7e	UTSW	15	77717807	missense	possibly damaging	0.64
R8671:Apol7e	UTSW	15	77717603	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTTTAAGAACACACTCAGTCCC -3'
(R):5'- TTGCTGAGAAGAGAAACCCTG -3'

Sequencing Primer
(F):5'- TCAGTCCCTATCACTAGTGACAC -3'
(R):5'- GAACCCTAACTACTTGGTCTGTCTGG -3'

Posted On

2019-10-07