Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01112:Apol7c'

52816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apol7c

Ensembl Gene

ENSMUSG00000044309

Gene Name

apolipoprotein L 7c

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01112

Quality Score

Status

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77526437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 103 (D103V)

Ref Sequence

ENSEMBL: ENSMUSP00000050745 (fasta)

Gene Model

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

AlphaFold

Q8C6E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062562
AA Change: D103V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: D103V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	T	C	7: 144,637,145	I401V	possibly damaging	Het
Ap2a2	A	T	7: 141,605,019		probably benign	Het
Arid4a	T	C	12: 71,072,733		probably null	Het
Atp2a1	A	G	7: 126,450,307	V521A	probably benign	Het
Ccdc88c	G	T	12: 100,916,803	D1603E	probably benign	Het
Clec4f	T	C	6: 83,653,200	I125M	probably benign	Het
Dsc1	T	C	18: 20,094,622	I520V	probably benign	Het
Eomes	G	A	9: 118,482,266	A386T	probably damaging	Het
Gldc	C	T	19: 30,158,513		probably null	Het
Hectd4	G	T	5: 121,306,950	M1420I	probably benign	Het
Hmcn1	A	T	1: 150,632,552		probably benign	Het
Ighv6-3	G	A	12: 114,391,715	T118I	possibly damaging	Het
Krt82	A	G	15: 101,545,523	F250S	probably damaging	Het
Ltb	A	G	17: 35,194,600	T27A	probably benign	Het
Mex3b	T	A	7: 82,869,703	S409T	probably benign	Het
Mki67	A	T	7: 135,714,016	I39N	probably damaging	Het
Olfr576	A	G	7: 102,966,028		probably benign	Het
Palmd	A	G	3: 116,924,273	S192P	probably damaging	Het
Pcdh20	A	T	14: 88,467,200	M888K	probably benign	Het
Pclo	A	T	5: 14,681,069	H3195L	unknown	Het
Pgm1	A	T	5: 64,102,882	I137F	possibly damaging	Het
Polq	T	A	16: 37,017,309	N194K	probably damaging	Het
Rmnd1	T	C	10: 4,410,793		probably null	Het
Rnf114	T	C	2: 167,512,539	M180T	probably damaging	Het
Sap30	A	G	8: 57,485,089	F165L	possibly damaging	Het
Scgb3a2	T	A	18: 43,766,994		probably benign	Het
Sftpa1	A	T	14: 41,132,570	N38I	probably benign	Het
Sumf1	A	G	6: 108,176,016	F137S	probably damaging	Het
Tln2	C	A	9: 67,311,811	R284L	probably damaging	Het
Ttn	T	A	2: 76,710,464	R25732S	probably damaging	Het
Ttn	C	T	2: 76,740,359	R26730Q	probably damaging	Het
Tubgcp4	T	C	2: 121,173,601	V41A	probably benign	Het
Usp53	T	A	3: 122,957,718	Q230L	probably damaging	Het
Vmn2r57	T	C	7: 41,425,043	E532G	probably damaging	Het
Vps9d1	G	T	8: 123,246,030	N454K	probably damaging	Het
Wdr55	T	C	18: 36,762,079		probably null	Het
Zfp263	T	A	16: 3,748,912	C76S	probably benign	Het

Other mutations in Apol7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Apol7c	APN	15	77526300	missense	probably damaging	1.00
IGL02169:Apol7c	APN	15	77526416	missense	possibly damaging	0.87
IGL02262:Apol7c	APN	15	77525813	missense	probably benign	0.20
IGL02375:Apol7c	APN	15	77528849	missense	probably damaging	0.98
IGL02645:Apol7c	APN	15	77528883	missense	probably benign	0.19
IGL02934:Apol7c	APN	15	77526118	missense	possibly damaging	0.51
IGL03127:Apol7c	APN	15	77525906	missense	probably benign	0.16
R0130:Apol7c	UTSW	15	77526362	missense	possibly damaging	0.52
R0659:Apol7c	UTSW	15	77526273	missense	probably damaging	0.99
R1638:Apol7c	UTSW	15	77526218	missense	probably damaging	0.97
R1980:Apol7c	UTSW	15	77526044	missense	probably benign	0.16
R4366:Apol7c	UTSW	15	77526389	missense	probably benign	0.07
R4466:Apol7c	UTSW	15	77526464	missense	probably benign	0.00
R4624:Apol7c	UTSW	15	77526395	missense	probably damaging	1.00
R4629:Apol7c	UTSW	15	77526395	missense	probably damaging	1.00
R4706:Apol7c	UTSW	15	77525723	missense	probably benign	0.05
R5367:Apol7c	UTSW	15	77526147	missense	probably damaging	1.00
R5586:Apol7c	UTSW	15	77526399	missense	possibly damaging	0.81
R6239:Apol7c	UTSW	15	77526431	missense	probably benign	0.28
R6860:Apol7c	UTSW	15	77526074	missense	probably benign	0.02
R7179:Apol7c	UTSW	15	77525643	missense	probably benign	0.01
R7234:Apol7c	UTSW	15	77525675	nonsense	probably null
R7513:Apol7c	UTSW	15	77525711	missense	possibly damaging	0.51
R7779:Apol7c	UTSW	15	77525746	missense	probably damaging	0.98
R8499:Apol7c	UTSW	15	77526080	missense	possibly damaging	0.88
R9335:Apol7c	UTSW	15	77525689	missense	probably benign	0.00
R9354:Apol7c	UTSW	15	77525912	missense	possibly damaging	0.51

Posted On

2013-06-21