Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02262:Apol7c'

286793

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 #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

77524852-77533316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77525813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 311 (M311K)

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: M311K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: M311K

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,441,396	A560E	probably benign	Het
Arap2	A	C	5: 62,642,841	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,108,129	T1388I	probably damaging	Het
Dcaf13	T	C	15: 39,118,707		probably benign	Het
Dscaml1	G	A	9: 45,732,080	V1266I	probably benign	Het
Dscaml1	G	A	9: 45,745,116	G1585S	probably benign	Het
Epc1	A	G	18: 6,437,278	L750P	probably damaging	Het
Fgd6	T	A	10: 94,125,628	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,996,012	I293T	probably damaging	Het
Gm21759	T	C	5: 8,180,747		probably benign	Het
Igkv3-10	A	T	6: 70,573,170	D100V	possibly damaging	Het
Ipo13	A	C	4: 117,903,813	I569M	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Kif26b	A	G	1: 178,916,068	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,502,075	E489G	probably damaging	Het
Nrxn1	A	G	17: 90,704,208	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,781,797	L529F	probably damaging	Het
Obscn	A	T	11: 59,028,533	C6882S	possibly damaging	Het
Olfr126	A	C	17: 37,851,263	T224P	probably damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Ppp1r13b	C	A	12: 111,835,211	L346F	possibly damaging	Het
Psg22	T	C	7: 18,724,571	S396P	probably damaging	Het
Rbm19	A	G	5: 120,143,405	E797G	probably damaging	Het
Ros1	T	G	10: 52,178,969	D79A	probably damaging	Het
Scn10a	C	T	9: 119,658,433	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,550,341	V568A	probably damaging	Het
Soga1	A	T	2: 157,030,906	V895E	probably damaging	Het
Traf5	A	G	1: 191,997,675	F472L	probably damaging	Het
Trim30b	C	T	7: 104,365,900	V94M	probably damaging	Het
Wasl	A	T	6: 24,619,187	S445T	unknown	Het
Zfp541	A	G	7: 16,079,695	K758E	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
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
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

2015-04-16