Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02081:Apol7b'

192580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apol7b

Ensembl Gene

ENSMUSG00000068252

Gene Name

apolipoprotein L 7b

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02081

Quality Score

Status

Chromosome

Chromosomal Location

77306409-77331660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77307736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 253 (L253P)

Ref Sequence

ENSEMBL: ENSMUSP00000086894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089469] [ENSMUST00000229434]

AlphaFold

B1AQP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089469
AA Change: L253P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: L253P

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	82	7.9e-15	PFAM
Pfam:ApoL	77	367	1.9e-123	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229381

Predicted Effect

probably benign
Transcript: ENSMUST00000229434

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	G	T	8: 44,023,233 (GRCm39)	L86I	probably damaging	Het
Adamts17	C	T	7: 66,711,858 (GRCm39)	R726C	probably damaging	Het
Aff1	A	G	5: 103,982,171 (GRCm39)	K778R	probably damaging	Het
Agr2	G	A	12: 36,045,655 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,597,285 (GRCm39)	C1173S	possibly damaging	Het
Atp10a	A	T	7: 58,477,604 (GRCm39)	T1268S	possibly damaging	Het
Atr	A	T	9: 95,765,258 (GRCm39)	K1149N	probably damaging	Het
Bri3bp	G	A	5: 125,518,961 (GRCm39)		probably null	Het
Ccser1	T	A	6: 61,288,152 (GRCm39)	L105*	probably null	Het
Cyp4a10	G	A	4: 115,378,369 (GRCm39)	A152T	possibly damaging	Het
Dock2	C	T	11: 34,204,355 (GRCm39)	D1396N	probably benign	Het
Ext1	A	T	15: 52,936,842 (GRCm39)	Y634*	probably null	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Gcn1	A	G	5: 115,723,930 (GRCm39)	K529E	probably damaging	Het
H2-Q2	A	G	17: 35,561,684 (GRCm39)	D58G	probably damaging	Het
Hid1	T	C	11: 115,239,332 (GRCm39)	D776G	possibly damaging	Het
Il18r1	A	T	1: 40,537,665 (GRCm39)	S477C	probably damaging	Het
Irag1	T	C	7: 110,523,281 (GRCm39)		probably null	Het
Jmjd1c	T	G	10: 67,055,305 (GRCm39)	F242V	probably benign	Het
Krtap4-1	G	A	11: 99,519,010 (GRCm39)		probably benign	Het
Mms19	A	G	19: 41,938,418 (GRCm39)		probably null	Het
Mpdz	T	C	4: 81,254,106 (GRCm39)	T1009A	probably damaging	Het
Mrpl22	T	C	11: 58,062,647 (GRCm39)	I19T	probably benign	Het
Nup88	A	G	11: 70,845,480 (GRCm39)		probably benign	Het
Or5b94	A	T	19: 12,652,180 (GRCm39)	I204F	probably benign	Het
Pnpo	T	C	11: 96,830,150 (GRCm39)	Y183C	probably damaging	Het
Poln	C	T	5: 34,286,483 (GRCm39)	M228I	probably benign	Het
Scara5	T	C	14: 65,968,104 (GRCm39)	W126R	possibly damaging	Het
Scmh1	T	G	4: 120,372,275 (GRCm39)	C359W	probably damaging	Het
Snrpn	T	C	7: 59,637,194 (GRCm39)	I41V	possibly damaging	Het
St8sia1	T	C	6: 142,774,953 (GRCm39)	M209V	probably benign	Het
Stard9	T	A	2: 120,495,391 (GRCm39)	S89T	probably damaging	Het
Tet1	T	C	10: 62,649,597 (GRCm39)	T1667A	probably damaging	Het
Tmem217	C	T	17: 29,745,347 (GRCm39)	G128S	probably damaging	Het
Ttpal	A	G	2: 163,457,308 (GRCm39)	N260S	probably benign	Het
Vwa2	A	G	19: 56,890,668 (GRCm39)	D233G	probably benign	Het
Wdr83	A	G	8: 85,802,472 (GRCm39)	F258L	probably benign	Het
Zfp277	A	T	12: 40,378,795 (GRCm39)	L354*	probably null	Het
Zfp516	A	G	18: 82,973,858 (GRCm39)	R19G	probably benign	Het

Other mutations in Apol7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Apol7b	APN	15	77,308,114 (GRCm39)	missense	probably damaging	1.00
IGL02350:Apol7b	APN	15	77,307,832 (GRCm39)	missense	probably benign	0.05
IGL02357:Apol7b	APN	15	77,307,832 (GRCm39)	missense	probably benign	0.05
R0506:Apol7b	UTSW	15	77,309,728 (GRCm39)	missense	probably benign	0.02
R1187:Apol7b	UTSW	15	77,307,603 (GRCm39)	missense	possibly damaging	0.94
R1433:Apol7b	UTSW	15	77,309,746 (GRCm39)	missense	probably damaging	1.00
R1978:Apol7b	UTSW	15	77,307,539 (GRCm39)	missense	probably damaging	0.99
R2272:Apol7b	UTSW	15	77,307,910 (GRCm39)	missense	probably damaging	1.00
R4012:Apol7b	UTSW	15	77,308,909 (GRCm39)	missense	probably damaging	0.98
R4485:Apol7b	UTSW	15	77,307,866 (GRCm39)	missense	probably benign
R4571:Apol7b	UTSW	15	77,307,734 (GRCm39)	missense	probably benign	0.01
R4823:Apol7b	UTSW	15	77,311,982 (GRCm39)	utr 5 prime	probably benign
R5018:Apol7b	UTSW	15	77,308,916 (GRCm39)	missense	probably benign	0.03
R5944:Apol7b	UTSW	15	77,307,967 (GRCm39)	missense	probably damaging	0.99
R6514:Apol7b	UTSW	15	77,308,126 (GRCm39)	missense	probably benign	0.00
R6519:Apol7b	UTSW	15	77,307,548 (GRCm39)	missense	probably benign	0.01
R6808:Apol7b	UTSW	15	77,308,873 (GRCm39)	missense	probably damaging	1.00
R6904:Apol7b	UTSW	15	77,307,625 (GRCm39)	missense	probably benign	0.09
R7570:Apol7b	UTSW	15	77,307,674 (GRCm39)	missense	probably benign	0.00
R7571:Apol7b	UTSW	15	77,307,677 (GRCm39)	missense	probably benign	0.07
R7603:Apol7b	UTSW	15	77,307,656 (GRCm39)	missense	possibly damaging	0.46
R8162:Apol7b	UTSW	15	77,307,430 (GRCm39)	missense	probably benign
R8963:Apol7b	UTSW	15	77,308,120 (GRCm39)	missense	possibly damaging	0.88
R9028:Apol7b	UTSW	15	77,307,616 (GRCm39)	missense	probably damaging	1.00
R9642:Apol7b	UTSW	15	77,308,103 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-14