Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Apol7c'

429441

Institutional Source

Beutler Lab

Gene Symbol

Apol7c

Ensembl Gene

ENSMUSG00000044309

Gene Name

apolipoprotein L 7c

Synonyms

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77526147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 200 (V200F)

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: V200F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: V200F

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 60,039,636 (GRCm38)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,526,596 (GRCm38)	I164T	probably damaging	Het
Adam11	A	G	11: 102,773,653 (GRCm38)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,538,703 (GRCm38)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,807,871 (GRCm38)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,589,408 (GRCm38)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,318,502 (GRCm38)	V45F	probably damaging	Het
Arap1	G	A	7: 101,409,130 (GRCm38)	V721M	probably damaging	Het
Arhgef40	A	G	14: 51,989,699 (GRCm38)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,384,493 (GRCm38)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,204,653 (GRCm38)	F970L	probably damaging	Het
Celf5	A	G	10: 81,467,264 (GRCm38)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,615,141 (GRCm38)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,677,524 (GRCm38)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 134,230,214 (GRCm38)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,052,984 (GRCm38)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,104 (GRCm38)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,523,954 (GRCm38)		probably null	Het
Eif2ak4	T	A	2: 118,436,158 (GRCm38)		probably null	Het
Eif3e	C	T	15: 43,252,304 (GRCm38)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,786,944 (GRCm38)	V181M	probably damaging	Het
Erap1	A	G	13: 74,646,561 (GRCm38)	E113G	probably damaging	Het
Fads2	A	G	19: 10,064,285 (GRCm38)	L438P	probably damaging	Het
Fbl	T	A	7: 28,175,050 (GRCm38)	V67E	probably damaging	Het
Gde1	A	G	7: 118,705,406 (GRCm38)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,691,977 (GRCm38)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm38)	F205C	probably damaging	Het
Gm1988	T	A	7: 39,173,780 (GRCm38)		noncoding transcript	Het
Gm6728	T	C	6: 136,486,504 (GRCm38)		noncoding transcript	Het
Grb14	C	T	2: 64,917,309 (GRCm38)	V369I	probably benign	Het
Jag1	T	A	2: 137,085,094 (GRCm38)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm38)	G1282D	probably benign	Het
Krt87	A	T	15: 101,486,994 (GRCm38)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,393,963 (GRCm38)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,602 (GRCm38)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,254,965 (GRCm38)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,900,449 (GRCm38)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,534,298 (GRCm38)	S174R	probably damaging	Het
Nos3	A	G	5: 24,371,944 (GRCm38)	T490A	probably benign	Het
Or12d2	T	A	17: 37,314,256 (GRCm38)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,269,890 (GRCm38)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,120,436 (GRCm38)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,146,501 (GRCm38)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,608,374 (GRCm38)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,506,162 (GRCm38)	T214S	probably benign	Het
Piezo2	T	C	18: 63,064,731 (GRCm38)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,147,905 (GRCm38)		probably benign	Het
Sart3	C	T	5: 113,759,216 (GRCm38)		probably null	Het
Scara5	CG	C	14: 65,759,662 (GRCm38)		probably null	Het
Scrn2	A	G	11: 97,033,127 (GRCm38)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,745,902 (GRCm38)	D94G	probably damaging	Het
Slc12a4	A	T	8: 105,951,634 (GRCm38)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,787,803 (GRCm38)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,595,976 (GRCm38)		probably null	Het
Smr3a	T	C	5: 88,008,038 (GRCm38)		probably benign	Het
Stox2	A	G	8: 47,203,225 (GRCm38)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,600,707 (GRCm38)		probably benign	Het
Tmem35b	A	G	4: 127,124,473 (GRCm38)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,241,808 (GRCm38)	H430Y	probably benign	Het
Tpo	T	C	12: 30,103,290 (GRCm38)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,516,651 (GRCm38)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,259,150 (GRCm38)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,521,910 (GRCm38)	V12A	probably benign	Het

Other mutations in Apol7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Apol7c	APN	15	77,526,437 (GRCm38)	missense	probably damaging	1.00
IGL01653:Apol7c	APN	15	77,526,300 (GRCm38)	missense	probably damaging	1.00
IGL02169:Apol7c	APN	15	77,526,416 (GRCm38)	missense	possibly damaging	0.87
IGL02262:Apol7c	APN	15	77,525,813 (GRCm38)	missense	probably benign	0.20
IGL02375:Apol7c	APN	15	77,528,849 (GRCm38)	missense	probably damaging	0.98
IGL02645:Apol7c	APN	15	77,528,883 (GRCm38)	missense	probably benign	0.19
IGL02934:Apol7c	APN	15	77,526,118 (GRCm38)	missense	possibly damaging	0.51
IGL03127:Apol7c	APN	15	77,525,906 (GRCm38)	missense	probably benign	0.16
R0130:Apol7c	UTSW	15	77,526,362 (GRCm38)	missense	possibly damaging	0.52
R0659:Apol7c	UTSW	15	77,526,273 (GRCm38)	missense	probably damaging	0.99
R1638:Apol7c	UTSW	15	77,526,218 (GRCm38)	missense	probably damaging	0.97
R1980:Apol7c	UTSW	15	77,526,044 (GRCm38)	missense	probably benign	0.16
R4366:Apol7c	UTSW	15	77,526,389 (GRCm38)	missense	probably benign	0.07
R4466:Apol7c	UTSW	15	77,526,464 (GRCm38)	missense	probably benign	0.00
R4624:Apol7c	UTSW	15	77,526,395 (GRCm38)	missense	probably damaging	1.00
R4629:Apol7c	UTSW	15	77,526,395 (GRCm38)	missense	probably damaging	1.00
R4706:Apol7c	UTSW	15	77,525,723 (GRCm38)	missense	probably benign	0.05
R5586:Apol7c	UTSW	15	77,526,399 (GRCm38)	missense	possibly damaging	0.81
R6239:Apol7c	UTSW	15	77,526,431 (GRCm38)	missense	probably benign	0.28
R6860:Apol7c	UTSW	15	77,526,074 (GRCm38)	missense	probably benign	0.02
R7179:Apol7c	UTSW	15	77,525,643 (GRCm38)	missense	probably benign	0.01
R7234:Apol7c	UTSW	15	77,525,675 (GRCm38)	nonsense	probably null
R7513:Apol7c	UTSW	15	77,525,711 (GRCm38)	missense	possibly damaging	0.51
R7779:Apol7c	UTSW	15	77,525,746 (GRCm38)	missense	probably damaging	0.98
R8499:Apol7c	UTSW	15	77,526,080 (GRCm38)	missense	possibly damaging	0.88
R9335:Apol7c	UTSW	15	77,525,689 (GRCm38)	missense	probably benign	0.00
R9354:Apol7c	UTSW	15	77,525,912 (GRCm38)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GGCTTTGGACAACTGAATGGC -3'
(R):5'- AGAGCATCAGGAAGCTCCAC -3'

Sequencing Primer
(F):5'- TGGACAACTGAATGGCATTAATAC -3'
(R):5'- CCTGGCAGACAAGGTTGAC -3'

Posted On

2016-09-06