Mutagenetix > Incidental Mutation

Incidental Mutation 'R6404:Apol10a'

518913

Institutional Source

Beutler Lab

Gene Symbol

Apol10a

Ensembl Gene

ENSMUSG00000050982

Gene Name

apolipoprotein L 10A

Synonyms

9030421J09Rik

MMRRC Submission

044549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77361247-77375269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77373241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 292 (F292L)

Ref Sequence

ENSEMBL: ENSMUSP00000060650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060551] [ENSMUST00000119997]

AlphaFold

Q8CCA5

Predicted Effect

probably benign
Transcript: ENSMUST00000060551
AA Change: F292L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000060650
Gene: ENSMUSG00000050982
AA Change: F292L

Domain	Start	End	E-Value	Type
Pfam:ApoL	29	318	1.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119997
AA Change: F292L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113168
Gene: ENSMUSG00000050982
AA Change: F292L

Domain	Start	End	E-Value	Type
Pfam:ApoL	28	318	2.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126154

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,484,892 (GRCm39)	D1540G	probably benign	Het
Adamts7	A	T	9: 90,062,509 (GRCm39)		probably null	Het
Atp13a4	A	T	16: 29,290,719 (GRCm39)	Y243*	probably null	Het
Cc2d2a	A	G	5: 43,861,416 (GRCm39)	N660D	possibly damaging	Het
Ccdc57	T	C	11: 120,785,538 (GRCm39)	T466A	probably benign	Het
Ccdc74a	A	T	16: 17,467,889 (GRCm39)	N249Y	possibly damaging	Het
Cd3e	T	A	9: 44,912,426 (GRCm39)	E106V	probably damaging	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,415,743 (GRCm39)	Y2691H	possibly damaging	Het
Dmxl2	T	C	9: 54,282,820 (GRCm39)	R2786G	probably damaging	Het
Dpyd	A	G	3: 119,059,606 (GRCm39)	T768A	probably benign	Het
Endou	T	A	15: 97,610,012 (GRCm39)	Q428L	probably damaging	Het
Fam13c	T	C	10: 70,284,646 (GRCm39)		probably null	Het
Fhip1b	G	A	7: 105,034,198 (GRCm39)	R478*	probably null	Het
Frmd5	G	A	2: 121,379,699 (GRCm39)	R70*	probably null	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm4131	T	A	14: 62,718,598 (GRCm39)	R3*	probably null	Het
Habp4	A	G	13: 64,330,000 (GRCm39)	T302A	possibly damaging	Het
Ift81	A	T	5: 122,749,069 (GRCm39)	D27E	probably damaging	Het
Iqcf3	T	C	9: 106,430,083 (GRCm39)	I107V	probably benign	Het
Iqgap2	A	G	13: 95,865,985 (GRCm39)	I298T	probably benign	Het
Lilrb4b	A	G	10: 51,361,825 (GRCm39)	D199G	probably damaging	Het
Lsm8	C	T	6: 18,848,739 (GRCm39)	S3F	possibly damaging	Het
Meox1	T	C	11: 101,769,482 (GRCm39)	E238G	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	C	2: 52,097,737 (GRCm39)	Y901C	probably damaging	Het
Nfat5	A	G	8: 108,097,220 (GRCm39)	M121V	probably benign	Het
Notch2	G	A	3: 97,989,314 (GRCm39)	G278D	probably damaging	Het
Or4c121	T	C	2: 89,023,906 (GRCm39)	I157M	probably damaging	Het
Pbld2	T	A	10: 62,890,107 (GRCm39)	S172T	probably damaging	Het
Pla2g7	T	A	17: 43,905,688 (GRCm39)	Y83N	probably damaging	Het
Plxnb1	A	T	9: 108,945,705 (GRCm39)	I2079F	probably damaging	Het
Rara	T	C	11: 98,851,839 (GRCm39)	F17L	probably benign	Het
Skint5	G	A	4: 113,799,806 (GRCm39)	T121I	probably damaging	Het
Slco6c1	T	C	1: 97,046,330 (GRCm39)	Y251C	probably damaging	Het
Slmap	T	A	14: 26,143,566 (GRCm39)		probably null	Het
Uba2	A	T	7: 33,853,985 (GRCm39)	L319Q	probably damaging	Het
Vmn2r96	A	T	17: 18,817,793 (GRCm39)	I457F	probably damaging	Het
Zfp57	A	T	17: 37,320,716 (GRCm39)	H190L	probably damaging	Het
Zfp738	A	G	13: 67,819,179 (GRCm39)	S271P	possibly damaging	Het
Zp2	A	T	7: 119,734,765 (GRCm39)	H474Q	possibly damaging	Het

Other mutations in Apol10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Apol10a	APN	15	77,369,135 (GRCm39)	missense	probably null	0.99
IGL02249:Apol10a	APN	15	77,372,709 (GRCm39)	missense	probably damaging	1.00
IGL02252:Apol10a	APN	15	77,372,670 (GRCm39)	missense	probably benign
R0347:Apol10a	UTSW	15	77,372,891 (GRCm39)	missense	probably damaging	0.99
R4052:Apol10a	UTSW	15	77,373,185 (GRCm39)	missense	probably benign	0.00
R4738:Apol10a	UTSW	15	77,372,841 (GRCm39)	missense	possibly damaging	0.92
R4739:Apol10a	UTSW	15	77,372,841 (GRCm39)	missense	possibly damaging	0.92
R4740:Apol10a	UTSW	15	77,372,841 (GRCm39)	missense	possibly damaging	0.92
R5316:Apol10a	UTSW	15	77,372,729 (GRCm39)	missense	probably damaging	1.00
R5572:Apol10a	UTSW	15	77,372,834 (GRCm39)	missense	probably damaging	1.00
R6306:Apol10a	UTSW	15	77,373,161 (GRCm39)	missense	probably benign	0.00
R6713:Apol10a	UTSW	15	77,373,051 (GRCm39)	missense	possibly damaging	0.65
R7002:Apol10a	UTSW	15	77,369,046 (GRCm39)	missense	possibly damaging	0.90
R7273:Apol10a	UTSW	15	77,373,068 (GRCm39)	missense	probably damaging	0.96
R7388:Apol10a	UTSW	15	77,373,225 (GRCm39)	missense	possibly damaging	0.91
R9509:Apol10a	UTSW	15	77,372,968 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2018-05-24