Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Apol7a'

602097

Institutional Source

Beutler Lab

Gene Symbol

Apol7a

Ensembl Gene

ENSMUSG00000010601

Gene Name

apolipoprotein L 7a

Synonyms

9130022K13Rik, Apol3

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77272419-77283310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77273275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 396 (R396G)

Ref Sequence

ENSEMBL: ENSMUSP00000134864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010745] [ENSMUST00000175789] [ENSMUST00000175919] [ENSMUST00000176074]

AlphaFold

B2RT54

Predicted Effect

probably damaging
Transcript: ENSMUST00000010745
AA Change: R396G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010745
Gene: ENSMUSG00000010601
AA Change: R396G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	82	2.4e-13	PFAM
low complexity region	84	95	N/A	INTRINSIC
Pfam:ApoL	123	416	1.8e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175789

Predicted Effect

probably damaging
Transcript: ENSMUST00000175919
AA Change: R396G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135864
Gene: ENSMUSG00000010601
AA Change: R396G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	416	3.1e-138	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176074
AA Change: R396G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134864
Gene: ENSMUSG00000010601
AA Change: R396G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	416	3.1e-138	PFAM

Meta Mutation Damage Score

0.8234

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Ism2	A	C	12: 87,326,634 (GRCm39)	V435G	probably damaging	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or6c5c	A	G	10: 129,298,665 (GRCm39)	N40S	probably damaging	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het

Other mutations in Apol7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Apol7a	APN	15	77,274,055 (GRCm39)	unclassified	probably benign
IGL01408:Apol7a	APN	15	77,273,530 (GRCm39)	missense	probably damaging	1.00
IGL01702:Apol7a	APN	15	77,273,886 (GRCm39)	splice site	probably null
IGL02215:Apol7a	APN	15	77,277,690 (GRCm39)	missense	possibly damaging	0.81
IGL02931:Apol7a	APN	15	77,277,650 (GRCm39)	nonsense	probably null
R0610:Apol7a	UTSW	15	77,273,454 (GRCm39)	missense	probably benign	0.06
R0652:Apol7a	UTSW	15	77,274,055 (GRCm39)	unclassified	probably benign
R1616:Apol7a	UTSW	15	77,273,806 (GRCm39)	missense	probably damaging	1.00
R1756:Apol7a	UTSW	15	77,277,671 (GRCm39)	missense	possibly damaging	0.93
R3034:Apol7a	UTSW	15	77,273,923 (GRCm39)	missense	probably benign	0.03
R4566:Apol7a	UTSW	15	77,273,951 (GRCm39)	nonsense	probably null
R5059:Apol7a	UTSW	15	77,274,012 (GRCm39)	unclassified	probably benign
R6807:Apol7a	UTSW	15	77,277,520 (GRCm39)	splice site	probably null
R6995:Apol7a	UTSW	15	77,274,176 (GRCm39)	unclassified	probably benign
R8364:Apol7a	UTSW	15	77,273,820 (GRCm39)	missense	possibly damaging	0.51
R8375:Apol7a	UTSW	15	77,273,547 (GRCm39)	missense	probably damaging	1.00
R9396:Apol7a	UTSW	15	77,273,925 (GRCm39)	missense	possibly damaging	0.76
R9471:Apol7a	UTSW	15	77,273,680 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGTCATGAGATTGTCCCATCTCTG -3'
(R):5'- ACAGGTGCAGAAAGCCTTTG -3'

Sequencing Primer
(F):5'- ATGAGATTGTCCCATCTCTGTTCTGG -3'
(R):5'- AAAGCCTTTGGAGGTACCGCTC -3'

Posted On

2019-12-03