Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Apol7c'

325773

Institutional Source

Beutler Lab

Gene Symbol

Apol7c

Ensembl Gene

ENSMUSG00000044309

Gene Name

apolipoprotein L 7c

Synonyms

MMRRC Submission

041114-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77526389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 119 (D119A)

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: D119A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: D119A

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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,441,969	T396P	probably damaging	Het
Apob	A	T	12: 8,016,083	I4318F	possibly damaging	Het
App	G	T	16: 85,056,433	D252E	unknown	Het
C4a	T	A	17: 34,814,908		noncoding transcript	Het
Cacna1b	T	C	2: 24,702,620	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,609,974	A123S	probably damaging	Het
Cldn6	G	C	17: 23,681,520	A153P	probably benign	Het
Cmya5	T	C	13: 93,091,956	N2208S	probably benign	Het
Csnk1g1	A	G	9: 66,019,853	T101A	probably benign	Het
Ddx46	T	A	13: 55,663,236	D544E	probably benign	Het
Dmxl1	T	A	18: 49,878,017	C1080*	probably null	Het
Dst	T	C	1: 34,251,878	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,555,945	K313R	probably damaging	Het
Elf2	G	A	3: 51,308,149	Q47*	probably null	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Epc2	A	G	2: 49,547,554	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,403,813		probably benign	Het
Ereg	T	C	5: 91,086,800	I24T	probably benign	Het
Evc2	C	A	5: 37,338,669	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,336,414	V283A	probably benign	Het
Flrt3	T	C	2: 140,660,407	T434A	probably damaging	Het
Gm572	A	G	4: 148,654,865	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,316,164	D748N	probably damaging	Het
Hivep3	A	C	4: 120,096,089	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,766,809		probably null	Het
Ipo7	T	C	7: 110,029,712	M63T	possibly damaging	Het
Ipo7	A	T	7: 110,048,216	T614S	possibly damaging	Het
Krt83	T	G	15: 101,487,514	M326L	probably benign	Het
Mbd5	T	A	2: 49,272,966	N261K	probably damaging	Het
Mcam	T	A	9: 44,134,697	L3Q	probably damaging	Het
Mcoln3	C	A	3: 146,140,492	T519K	possibly damaging	Het
Mrgprx1	C	A	7: 48,021,193	A269S	probably damaging	Het
Mypn	T	C	10: 63,192,708	E192G	probably benign	Het
Nup205	C	A	6: 35,192,027	P397Q	probably benign	Het
Obsl1	A	C	1: 75,488,049	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,015,461	S817P	probably benign	Het
Olfr800	A	T	10: 129,660,531	M242L	probably benign	Het
Olfr876	A	T	9: 37,804,190	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,754,072	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,310,862		probably null	Het
Phip	C	T	9: 82,900,869		probably benign	Het
Rhbdl2	T	A	4: 123,809,935	M1K	probably null	Het
Ripor2	C	T	13: 24,721,711	P947S	probably benign	Het
Sf3a3	A	G	4: 124,725,139	T298A	probably benign	Het
Slc25a29	C	T	12: 108,831,171		probably benign	Het
Spinkl	T	G	18: 44,174,583	T4P	possibly damaging	Het
Stk33	G	A	7: 109,279,795	S449L	probably benign	Het
Suz12	T	A	11: 80,002,162		probably benign	Het
Timp2	T	A	11: 118,310,671	I124F	probably damaging	Het
Tlr1	C	T	5: 64,925,837	D466N	probably benign	Het
Tmem200b	A	G	4: 131,922,470	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Usp33	C	A	3: 152,368,512	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,330	E634G	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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGTCACAGTGGCTGCTG -3'
(R):5'- TCTGTGGTTCCTACAGGACAGATC -3'

Sequencing Primer
(F):5'- AGACTGACTCCTGCTGTCACAG -3'
(R):5'- GGACAGATCTTACTTTACAAGCAGTC -3'

Posted On

2015-07-06