Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02645:Apol7c'

301901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apol7c

Ensembl Gene

ENSMUSG00000044309

Gene Name

apolipoprotein L 7c

Synonyms

2210421G13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02645

Quality Score

Status

Chromosome

Chromosomal Location

77409052-77417516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77413083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 56 (S56T)

Ref Sequence

ENSEMBL: ENSMUSP00000155510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062562] [ENSMUST00000230863]

AlphaFold

Q8C6E1

Predicted Effect

probably benign
Transcript: ENSMUST00000062562
AA Change: S56T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: S56T

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	81	1.7e-12	PFAM
Pfam:ApoL	77	367	5.1e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230863
AA Change: S56T

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 52,001,804 (GRCm39)	Y48C	probably damaging	Het
Aox1	T	A	1: 58,373,883 (GRCm39)	M848K	probably damaging	Het
Asic4	G	A	1: 75,449,998 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,234,777 (GRCm39)	K162R	possibly damaging	Het
Car12	T	A	9: 66,654,961 (GRCm39)	H130Q	probably benign	Het
Cars1	T	C	7: 143,111,646 (GRCm39)	E737G	probably damaging	Het
Ccdc141	G	A	2: 76,905,211 (GRCm39)	R412*	probably null	Het
Cd36	T	C	5: 17,990,878 (GRCm39)	T421A	probably benign	Het
Clasp2	T	G	9: 113,719,129 (GRCm39)	M758R	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Ebf4	A	G	2: 130,203,761 (GRCm39)	K471E	probably damaging	Het
Fat2	T	A	11: 55,173,654 (GRCm39)	D2353V	probably damaging	Het
Gm10136	A	G	19: 28,981,140 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,655,702 (GRCm39)	I930V	probably benign	Het
Ndrg2	T	A	14: 52,143,979 (GRCm39)	M300L	possibly damaging	Het
Nhs	A	G	X: 160,942,054 (GRCm39)	S111P	probably benign	Het
Nme8	T	A	13: 19,844,755 (GRCm39)	L111F	probably damaging	Het
Nol8	T	A	13: 49,818,947 (GRCm39)		probably null	Het
Or10g1b	T	A	14: 52,627,958 (GRCm39)	T91S	possibly damaging	Het
Or12e13	C	T	2: 87,663,959 (GRCm39)	T192M	probably benign	Het
Or4a76	T	C	2: 89,460,679 (GRCm39)	T188A	probably benign	Het
Or4c116	T	C	2: 88,941,963 (GRCm39)	R298G	probably benign	Het
Pcdhac2	G	A	18: 37,278,292 (GRCm39)	G424D	probably damaging	Het
Pex3	T	G	10: 13,422,173 (GRCm39)	E42D	possibly damaging	Het
Plxnb1	C	T	9: 108,943,311 (GRCm39)		probably benign	Het
Rpe65	T	A	3: 159,312,128 (GRCm39)	I209N	probably damaging	Het
Rsl1	T	A	13: 67,330,273 (GRCm39)	F240L	probably benign	Het
Rttn	A	T	18: 89,128,810 (GRCm39)	I1921F	probably benign	Het
Scn3a	A	T	2: 65,344,871 (GRCm39)	F539Y	probably benign	Het
Secisbp2	T	A	13: 51,836,496 (GRCm39)	M767K	probably damaging	Het
Sipa1l3	C	T	7: 29,028,405 (GRCm39)		probably null	Het
Slfn8	T	C	11: 82,894,380 (GRCm39)	N753S	possibly damaging	Het
Spmip6	A	G	4: 41,517,080 (GRCm39)	V28A	probably damaging	Het
Sympk	T	G	7: 18,786,349 (GRCm39)	V984G	probably damaging	Het
Tacr3	A	T	3: 134,566,943 (GRCm39)	D272V	possibly damaging	Het
Timd6	A	G	11: 46,477,047 (GRCm39)	R167G	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Zfp804a	T	C	2: 81,884,220 (GRCm39)	L29P	possibly damaging	Het
Zfp94	C	T	7: 24,003,179 (GRCm39)	G88R	probably benign	Het

Other mutations in Apol7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Apol7c	APN	15	77,410,637 (GRCm39)	missense	probably damaging	1.00
IGL01653:Apol7c	APN	15	77,410,500 (GRCm39)	missense	probably damaging	1.00
IGL02169:Apol7c	APN	15	77,410,616 (GRCm39)	missense	possibly damaging	0.87
IGL02262:Apol7c	APN	15	77,410,013 (GRCm39)	missense	probably benign	0.20
IGL02375:Apol7c	APN	15	77,413,049 (GRCm39)	missense	probably damaging	0.98
IGL02934:Apol7c	APN	15	77,410,318 (GRCm39)	missense	possibly damaging	0.51
IGL03127:Apol7c	APN	15	77,410,106 (GRCm39)	missense	probably benign	0.16
R0130:Apol7c	UTSW	15	77,410,562 (GRCm39)	missense	possibly damaging	0.52
R0659:Apol7c	UTSW	15	77,410,473 (GRCm39)	missense	probably damaging	0.99
R1638:Apol7c	UTSW	15	77,410,418 (GRCm39)	missense	probably damaging	0.97
R1980:Apol7c	UTSW	15	77,410,244 (GRCm39)	missense	probably benign	0.16
R4366:Apol7c	UTSW	15	77,410,589 (GRCm39)	missense	probably benign	0.07
R4466:Apol7c	UTSW	15	77,410,664 (GRCm39)	missense	probably benign	0.00
R4624:Apol7c	UTSW	15	77,410,595 (GRCm39)	missense	probably damaging	1.00
R4629:Apol7c	UTSW	15	77,410,595 (GRCm39)	missense	probably damaging	1.00
R4706:Apol7c	UTSW	15	77,409,923 (GRCm39)	missense	probably benign	0.05
R5367:Apol7c	UTSW	15	77,410,347 (GRCm39)	missense	probably damaging	1.00
R5586:Apol7c	UTSW	15	77,410,599 (GRCm39)	missense	possibly damaging	0.81
R6239:Apol7c	UTSW	15	77,410,631 (GRCm39)	missense	probably benign	0.28
R6860:Apol7c	UTSW	15	77,410,274 (GRCm39)	missense	probably benign	0.02
R7179:Apol7c	UTSW	15	77,409,843 (GRCm39)	missense	probably benign	0.01
R7234:Apol7c	UTSW	15	77,409,875 (GRCm39)	nonsense	probably null
R7513:Apol7c	UTSW	15	77,409,911 (GRCm39)	missense	possibly damaging	0.51
R7779:Apol7c	UTSW	15	77,409,946 (GRCm39)	missense	probably damaging	0.98
R8499:Apol7c	UTSW	15	77,410,280 (GRCm39)	missense	possibly damaging	0.88
R9335:Apol7c	UTSW	15	77,409,889 (GRCm39)	missense	probably benign	0.00
R9354:Apol7c	UTSW	15	77,410,112 (GRCm39)	missense	possibly damaging	0.51

Posted On

2015-04-16