Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Apol7c'

330366

Institutional Source

Beutler Lab

Gene Symbol

Apol7c

Ensembl Gene

ENSMUSG00000044309

Gene Name

apolipoprotein L 7c

Synonyms

MMRRC Submission

041723-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77526464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

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: E94G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: E94G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,838,466		noncoding transcript	Het
Adgra1	T	A	7: 139,840,836		probably benign	Het
Akap13	T	A	7: 75,602,773		probably null	Het
Amn1	T	C	6: 149,166,845		probably null	Het
Ano5	T	A	7: 51,570,275	F374I	probably damaging	Het
Arid4b	A	T	13: 14,132,510	S117C	probably damaging	Het
Atm	C	A	9: 53,448,169	E2778*	probably null	Het
Cped1	A	T	6: 22,123,652	Q468L	probably benign	Het
Crygb	A	G	1: 65,080,486	S112P	probably damaging	Het
Eml4	C	T	17: 83,421,674	Q93*	probably null	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam102b	T	A	3: 108,979,808	R291S	probably benign	Het
Fhad1	A	T	4: 141,957,658	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,323,653		probably null	Het
Gm5134	G	C	10: 76,008,575	K588N	probably benign	Het
Gpr21	A	G	2: 37,517,558	T39A	probably benign	Het
Irx1	C	A	13: 71,959,982	G194W	probably damaging	Het
Itgal	C	T	7: 127,328,512	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,106,342	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,320,300	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,957,268	D180G	probably damaging	Het
M6pr	A	G	6: 122,313,269	T64A	probably benign	Het
Mrpl47	G	A	3: 32,730,091	R177*	probably null	Het
Mtfr2	A	G	10: 20,348,413	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000	I31T	probably damaging	Het
Oas2	A	G	5: 120,749,602	S58P	probably damaging	Het
Olfr1489	G	A	19: 13,633,437	E109K	probably damaging	Het
Olfr339	A	T	2: 36,422,296	R299S	probably benign	Het
Olfr883	T	A	9: 38,026,183	C126S	probably damaging	Het
Polr1b	A	T	2: 129,123,882	I815L	probably benign	Het
Psma8	T	C	18: 14,721,174	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,653,102	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,237,923		probably benign	Het
Serpina3m	A	T	12: 104,391,615	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,959,851	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,381,451	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,364,707	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,227,862		probably benign	Het
Smyd2	A	G	1: 189,882,152	M393T	probably benign	Het
Sox8	C	A	17: 25,568,905	G190V	probably benign	Het
Stag2	A	G	X: 42,233,872	S400G	probably benign	Het
Stk35	C	A	2: 129,801,516	T140K	probably damaging	Het
Taf6	A	C	5: 138,181,201		probably benign	Het
Ten1	A	C	11: 116,204,997		probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Ttn	A	G	2: 76,713,700	F32981L	probably damaging	Het
Zik1	G	T	7: 10,490,966	T68K	probably benign	Het
Zzef1	T	A	11: 72,924,659	I2935N	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGTCAGGACTCCAGACACAG -3'
(R):5'- TATCAAGTGTGCTCATCCCAGAAAG -3'

Sequencing Primer
(F):5'- ACCACCCGTGAGATGGTG -3'
(R):5'- GTGTGCTCATCCCAGAAAGAAAGC -3'

Posted On

2015-07-21