Mutagenetix > Incidental Mutation

Incidental Mutation 'R5944:Apol7b'

460499

Institutional Source

Beutler Lab

Gene Symbol

Apol7b

Ensembl Gene

ENSMUSG00000068252

Gene Name

apolipoprotein L 7b

Synonyms

MMRRC Submission

044136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77306409-77331660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77307967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 176 (V176E)

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: V176E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: V176E

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

possibly damaging
Transcript: ENSMUST00000229434
AA Change: V176E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	T	5: 114,384,041 (GRCm39)	R2190L	probably damaging	Het
Ankrd17	C	T	5: 90,433,702 (GRCm39)	R689H	probably damaging	Het
Arsg	T	C	11: 109,426,137 (GRCm39)	F319S	probably damaging	Het
Bcar3	T	A	3: 122,316,932 (GRCm39)	D634E	probably benign	Het
Bend7	T	C	2: 4,749,167 (GRCm39)	W95R	probably damaging	Het
Cenpj	A	G	14: 56,791,115 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,148,672 (GRCm39)	T252N	probably damaging	Het
Clasrp	A	T	7: 19,328,431 (GRCm39)	Y116N	probably damaging	Het
Cldn17	T	C	16: 88,303,597 (GRCm39)	E44G	probably damaging	Het
Cyfip1	G	A	7: 55,521,878 (GRCm39)	E61K	probably damaging	Het
Dcaf13	A	C	15: 39,010,072 (GRCm39)	M419L	probably benign	Het
Eml4	A	G	17: 83,753,472 (GRCm39)	D269G	possibly damaging	Het
Fap	T	C	2: 62,372,605 (GRCm39)	Y258C	probably damaging	Het
Fdxr	T	A	11: 115,160,672 (GRCm39)	T288S	probably benign	Het
Frs3	T	C	17: 48,003,233 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,145,363 (GRCm39)		noncoding transcript	Het
Gm7964	A	G	7: 83,405,743 (GRCm39)	D187G	probably benign	Het
Gpc5	T	C	14: 115,607,250 (GRCm39)	V284A	probably benign	Het
Hspa9	T	C	18: 35,082,076 (GRCm39)	T177A	possibly damaging	Het
Ifi202b	T	A	1: 173,791,365 (GRCm39)	M438L	probably benign	Het
Ighv1-3	T	C	12: 114,445,239 (GRCm39)		probably benign	Het
Krt36	G	T	11: 99,996,139 (GRCm39)	A95E	probably benign	Het
Krt9	C	T	11: 100,079,265 (GRCm39)	S709N	unknown	Het
Lmntd1	A	T	6: 145,373,042 (GRCm39)	S164T	probably damaging	Het
Or14c41	T	A	7: 86,234,486 (GRCm39)	M1K	probably null	Het
Or2ag1b	A	T	7: 106,288,853 (GRCm39)	C28*	probably null	Het
Or52n4b	G	A	7: 108,144,484 (GRCm39)	A249T	possibly damaging	Het
Or5b94	C	T	19: 12,652,283 (GRCm39)	T238I	probably damaging	Het
Or7a41	A	T	10: 78,871,223 (GRCm39)	M198L	probably benign	Het
Papola	T	A	12: 105,778,644 (GRCm39)	F341I	possibly damaging	Het
Phf3	A	G	1: 30,859,785 (GRCm39)	L914P	probably damaging	Het
Sec24d	T	C	3: 123,087,230 (GRCm39)	V132A	probably benign	Het
Serpini1	G	A	3: 75,547,606 (GRCm39)	D373N	probably damaging	Het
Sigirr	T	C	7: 140,671,300 (GRCm39)	Y394C	probably damaging	Het
Slc29a4	G	A	5: 142,704,573 (GRCm39)	E372K	probably damaging	Het
Slc7a4	C	T	16: 17,392,220 (GRCm39)	V405I	possibly damaging	Het
Spatc1	T	C	15: 76,168,138 (GRCm39)	L199P	probably damaging	Het
Srgap3	T	C	6: 112,772,775 (GRCm39)	M149V	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stat3	C	T	11: 100,785,931 (GRCm39)	A449T	probably damaging	Het
Stat4	A	G	1: 52,113,898 (GRCm39)	N203D	probably damaging	Het
Tanc1	T	C	2: 59,667,564 (GRCm39)		probably null	Het
Trav3-1	T	C	14: 52,818,449 (GRCm39)	I41T	probably benign	Het
Usp34	T	A	11: 23,313,089 (GRCm39)	D525E	probably damaging	Het
Vars1	T	C	17: 35,232,620 (GRCm39)	V848A	probably damaging	Het
Vmn2r101	A	T	17: 19,809,769 (GRCm39)	D185V	probably benign	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
IGL02081:Apol7b	APN	15	77,307,736 (GRCm39)	missense	possibly damaging	0.83
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTGGGACCACTCTGATC -3'
(R):5'- AAATGACCCGTGGCACAAG -3'

Sequencing Primer
(F):5'- TGGGACCACTCTGATCCAAAACTTC -3'
(R):5'- CAAGGAAAGGTTCTTGGATGCTTATC -3'

Posted On

2017-02-28