Mutagenetix > Incidental Mutations

Incidental Mutation 'R2272:Apol7b'

242594

Institutional Source

Beutler Lab

Gene Symbol

Apol7b

Ensembl Gene

ENSMUSG00000068252

Gene Name

apolipoprotein L 7b

Synonyms

MMRRC Submission

040272-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77422209-77447492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77423710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 195 (A195V)

Ref Sequence

ENSEMBL: ENSMUSP00000086894 (fasta)

Gene Model

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

AlphaFold

B1AQP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089469
AA Change: A195V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: A195V

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Ago1	C	A	4: 126,453,650	M435I	probably benign	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Arntl2	T	C	6: 146,822,114	F314S	probably damaging	Het
Atg2b	C	T	12: 105,638,008	V1545I	probably benign	Het
Atp4a	C	A	7: 30,715,500	S238*	probably null	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Brinp3	A	G	1: 146,901,404	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495	V45A	probably benign	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Dnah10	A	G	5: 124,731,466	N195S	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Hydin	A	T	8: 110,309,132	I152L	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnq3	T	A	15: 66,028,680	D242V	probably damaging	Het
Klhl1	T	C	14: 96,517,908	D137G	probably benign	Het
Lama5	T	C	2: 180,178,603	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,316,762	L254S	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matn4	A	T	2: 164,397,242	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,144,338	H3612R	probably null	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Myo7b	C	T	18: 31,977,043	S1122N	probably benign	Het
Myo9a	T	A	9: 59,815,301	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Neil1	A	G	9: 57,146,785	S84P	probably damaging	Het
Nfix	A	G	8: 84,727,175	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,194,408	D474E	probably benign	Het
Olfr203	T	G	16: 59,303,444	M98R	possibly damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pcnx	T	C	12: 81,995,314	V2240A	probably benign	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Prss54	C	T	8: 95,571,107	W45*	probably null	Het
Psg29	A	T	7: 17,210,696	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Serpinb9c	C	T	13: 33,154,541	G125E	probably damaging	Het
Skint4	A	G	4: 112,119,868	T152A	probably benign	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
Ttn	T	A	2: 76,764,520	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,066,255	V510A	possibly damaging	Het
Usf1	T	C	1: 171,418,060	L291P	possibly damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,660,191	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,774,347	Q163L	probably damaging	Het

Other mutations in Apol7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Apol7b	APN	15	77423914	missense	probably damaging	1.00
IGL02081:Apol7b	APN	15	77423536	missense	possibly damaging	0.83
IGL02350:Apol7b	APN	15	77423632	missense	probably benign	0.05
IGL02357:Apol7b	APN	15	77423632	missense	probably benign	0.05
R0506:Apol7b	UTSW	15	77425528	missense	probably benign	0.02
R1187:Apol7b	UTSW	15	77423403	missense	possibly damaging	0.94
R1433:Apol7b	UTSW	15	77425546	missense	probably damaging	1.00
R1978:Apol7b	UTSW	15	77423339	missense	probably damaging	0.99
R4012:Apol7b	UTSW	15	77424709	missense	probably damaging	0.98
R4485:Apol7b	UTSW	15	77423666	missense	probably benign
R4571:Apol7b	UTSW	15	77423534	missense	probably benign	0.01
R4823:Apol7b	UTSW	15	77427782	utr 5 prime	probably benign
R5018:Apol7b	UTSW	15	77424716	missense	probably benign	0.03
R5944:Apol7b	UTSW	15	77423767	missense	probably damaging	0.99
R6514:Apol7b	UTSW	15	77423926	missense	probably benign	0.00
R6519:Apol7b	UTSW	15	77423348	missense	probably benign	0.01
R6808:Apol7b	UTSW	15	77424673	missense	probably damaging	1.00
R6904:Apol7b	UTSW	15	77423425	missense	probably benign	0.09
R7570:Apol7b	UTSW	15	77423474	missense	probably benign	0.00
R7571:Apol7b	UTSW	15	77423477	missense	probably benign	0.07
R7603:Apol7b	UTSW	15	77423456	missense	possibly damaging	0.46
R8162:Apol7b	UTSW	15	77423230	missense	probably benign
R8963:Apol7b	UTSW	15	77423920	missense	possibly damaging	0.88
R9028:Apol7b	UTSW	15	77423416	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTACAAGGCTAGGGTTGGC -3'
(R):5'- CCCTGGCAGATAAGGTTGAC -3'

Sequencing Primer
(F):5'- TGTTTTTCAGTTTCTTGAAGGAATTC -3'
(R):5'- TTGACAAGGTGCACAGGGAC -3'

Posted On

2014-10-16