Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02375:Apol7c'

291051

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: 0.052) question?

Stock #

IGL02375

Quality Score

Status

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77528849 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 67 (E67G)

Ref Sequence

ENSEMBL: ENSMUSP00000050745 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000062562
AA Change: E67G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: E67G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230863
AA Change: E67G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	A	G	2: 173,522,703	M14V	probably benign	Het
1700034J05Rik	T	A	6: 146,953,315	K76N	possibly damaging	Het
Agxt	A	G	1: 93,135,703	E109G	probably damaging	Het
Alcam	T	C	16: 52,288,936	T325A	probably benign	Het
Bco1	C	A	8: 117,113,439	S232Y	probably benign	Het
Cacna1c	A	T	6: 118,675,923	V763D	probably damaging	Het
Ccdc15	T	C	9: 37,304,332	D618G	probably damaging	Het
Col6a5	T	C	9: 105,906,113	N1603S	unknown	Het
Cyp4v3	A	G	8: 45,308,374		probably null	Het
Eml5	A	T	12: 98,844,087	V870E	probably damaging	Het
Epn2	A	G	11: 61,519,671	V512A	probably damaging	Het
Fam71b	G	T	11: 46,406,552	V228L	probably damaging	Het
Farp2	A	G	1: 93,576,463	R321G	probably damaging	Het
Gprasp1	T	C	X: 135,800,803	S582P	probably damaging	Het
Grhl2	T	C	15: 37,291,577	V303A	probably damaging	Het
Grik1	A	T	16: 87,946,556	F594L	probably damaging	Het
Hivep1	A	G	13: 42,156,449	K722E	probably benign	Het
Htr5b	G	A	1: 121,527,835	R119C	probably damaging	Het
Ifit2	T	C	19: 34,574,337	S426P	probably benign	Het
Kif13a	T	C	13: 46,825,222	Y234C	probably damaging	Het
Mios	T	A	6: 8,222,598	F511I	probably benign	Het
Mtfmt	T	C	9: 65,439,567	W148R	probably damaging	Het
Myo1c	C	A	11: 75,661,574	T391N	probably benign	Het
Nlrp1a	A	T	11: 71,113,513	L710*	probably null	Het
Nlrp1b	A	G	11: 71,161,680	I971T	probably damaging	Het
Nup43	A	G	10: 7,673,594	D171G	probably damaging	Het
Olfr1445	A	G	19: 12,883,941	E20G	probably benign	Het
P2rx7	T	C	5: 122,673,656		probably benign	Het
Poli	C	T	18: 70,523,292	G155R	probably damaging	Het
Rad9b	T	C	5: 122,333,342	S220G	possibly damaging	Het
Rgn	C	T	X: 20,550,461	S28L	probably damaging	Het
Tcp11l2	G	A	10: 84,605,068		probably null	Het
Tenm4	G	A	7: 96,704,137	V379I	possibly damaging	Het
Thsd7a	A	T	6: 12,343,265	C1118S	probably damaging	Het
Tmem8	T	A	17: 26,119,499	Y512N	probably benign	Het
Trpm7	A	G	2: 126,825,744	Y776H	probably damaging	Het
Trpv4	T	C	5: 114,636,357	N222S	probably benign	Het
Tut1	C	T	19: 8,964,039	R397C	probably damaging	Het
Vmn1r72	T	A	7: 11,669,745	T259S	probably benign	Het
Wdr17	A	G	8: 54,696,388	S2P	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
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

Posted On

2015-04-16