Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03127:Apol7c'

410183

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 #

IGL03127

Quality Score

Status

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77525906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 280 (M280T)

Ref Sequence

ENSEMBL: ENSMUSP00000050745 (fasta)

Gene Model

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

AlphaFold

Q8C6E1

Predicted Effect

probably benign
Transcript: ENSMUST00000062562
AA Change: M280T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: M280T

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Amdhd2	A	G	17: 24,157,738		probably null	Het
Atl2	T	C	17: 79,852,854	M264V	probably damaging	Het
Ccdc141	C	T	2: 77,029,235		probably null	Het
Dtx4	T	C	19: 12,486,500		probably benign	Het
Dyrk4	G	A	6: 126,897,171	T152I	possibly damaging	Het
F5	T	A	1: 164,193,538	I1194N	probably benign	Het
Gadl1	C	T	9: 115,948,664	T126M	probably damaging	Het
Gcnt7	A	T	2: 172,454,411	C110*	probably null	Het
H2-M9	C	T	17: 36,640,822	V254M	possibly damaging	Het
Hadha	A	T	5: 30,134,186		probably benign	Het
Kit	T	C	5: 75,641,188	M621T	probably benign	Het
Krt73	T	C	15: 101,795,840	M422V	probably benign	Het
Neil2	T	C	14: 63,191,808	H12R	probably benign	Het
Nrsn1	A	G	13: 25,253,717	L76P	probably damaging	Het
Olfr1393	T	G	11: 49,280,772	V208G	possibly damaging	Het
Olfr906	C	A	9: 38,488,586	Q186K	probably benign	Het
Olfr924	T	A	9: 38,848,209	Y32N	probably damaging	Het
Pot1a	G	A	6: 25,794,616	A23V	probably benign	Het
Ppp1r14d	A	G	2: 119,218,360	*147Q	probably null	Het
Ptger2	T	C	14: 45,002,005		probably benign	Het
Syne3	A	T	12: 104,943,428	D716E	probably benign	Het
Tbc1d9	A	G	8: 83,249,473	N554D	probably damaging	Het
Ushbp1	T	A	8: 71,394,376	Q204L	possibly damaging	Het

Other mutations in Apol7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Apol7c	APN	15	77526437	missense	probably damaging	1.00
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
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

2016-08-02