Mutagenetix > Incidental Mutation

Incidental Mutation 'R0688:Apol10b'

61256

Institutional Source

Beutler Lab

Gene Symbol

Apol10b

Ensembl Gene

ENSMUSG00000050014

Gene Name

apolipoprotein L 10B

Synonyms

9130218O11Rik

MMRRC Submission

038873-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0688 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

77468019-77480325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77469419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 253 (S253P)

Ref Sequence

ENSEMBL: ENSMUSP00000086890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089465]

AlphaFold

G3X9K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089465
AA Change: S253P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086890
Gene: ENSMUSG00000050014
AA Change: S253P

Domain	Start	End	E-Value	Type
Pfam:ApoL	28	328	2.8e-88	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	G	9: 104,001,299 (GRCm39)	V615G	probably damaging	Het
Apaf1	T	G	10: 90,897,567 (GRCm39)	E305D	possibly damaging	Het
Bbs9	T	A	9: 22,479,015 (GRCm39)	C153S	probably damaging	Het
Bicra	C	T	7: 15,723,247 (GRCm39)	G90D	probably damaging	Het
Clca4a	A	C	3: 144,667,735 (GRCm39)	L412R	probably damaging	Het
Cul3	A	T	1: 80,249,281 (GRCm39)	D597E	possibly damaging	Het
Cxcr5	A	G	9: 44,424,964 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,824,782 (GRCm39)	I646T	possibly damaging	Het
Focad	T	A	4: 88,192,450 (GRCm39)	V593D	unknown	Het
Fsip2	T	A	2: 82,812,683 (GRCm39)	S3001T	probably benign	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gdf9	T	A	11: 53,327,467 (GRCm39)	L141Q	probably damaging	Het
Gpr180	A	G	14: 118,385,596 (GRCm39)	D136G	probably benign	Het
Hsd3b9	T	C	3: 98,363,710 (GRCm39)	E45G	probably benign	Het
Itga2	G	T	13: 114,976,090 (GRCm39)	A1094E	probably benign	Het
Ly75	C	T	2: 60,146,565 (GRCm39)	A1238T	probably benign	Het
Macc1	T	C	12: 119,410,738 (GRCm39)	V502A	probably damaging	Het
Mroh4	T	C	15: 74,478,527 (GRCm39)	K923E	probably damaging	Het
Msh3	G	A	13: 92,487,939 (GRCm39)	P93S	possibly damaging	Het
Myo18a	A	G	11: 77,714,966 (GRCm39)	D474G	probably damaging	Het
Npat	T	A	9: 53,481,522 (GRCm39)	Y1077N	probably benign	Het
Or4c109	A	T	2: 88,817,939 (GRCm39)	S202R	probably damaging	Het
Or6c69	T	G	10: 129,747,752 (GRCm39)	T132P	probably damaging	Het
Or6k14	A	C	1: 173,927,630 (GRCm39)	H202P	probably damaging	Het
Or8u8	A	T	2: 86,011,949 (GRCm39)		probably null	Het
Paqr5	T	G	9: 61,880,076 (GRCm39)	T59P	probably benign	Het
Phyhipl	C	T	10: 70,395,085 (GRCm39)	G329R	probably damaging	Het
Pomgnt1	T	C	4: 116,013,086 (GRCm39)	Y430H	probably damaging	Het
Pramel21	T	C	4: 143,343,927 (GRCm39)	F409S	probably benign	Het
Prkd3	A	T	17: 79,264,662 (GRCm39)	M651K	probably damaging	Het
Puf60	A	T	15: 75,942,623 (GRCm39)	M440K	probably damaging	Het
Recql4	A	G	15: 76,594,009 (GRCm39)		probably null	Het
Sgk1	A	C	10: 21,874,059 (GRCm39)	M320L	probably benign	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Sorbs1	T	C	19: 40,351,706 (GRCm39)	T235A	probably damaging	Het
Srrm3	A	G	5: 135,898,130 (GRCm39)		probably benign	Het
Tex15	C	T	8: 34,063,528 (GRCm39)	T986I	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zswim4	T	C	8: 84,955,517 (GRCm39)	M301V	possibly damaging	Het

Other mutations in Apol10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Apol10b	APN	15	77,469,796 (GRCm39)	missense	probably damaging	1.00
IGL01654:Apol10b	APN	15	77,472,996 (GRCm39)	missense	probably benign
IGL01905:Apol10b	APN	15	77,469,559 (GRCm39)	missense	possibly damaging	0.92
IGL01969:Apol10b	APN	15	77,472,885 (GRCm39)	splice site	probably null
IGL02305:Apol10b	APN	15	77,469,630 (GRCm39)	missense	possibly damaging	0.55
R0361:Apol10b	UTSW	15	77,469,586 (GRCm39)	missense	possibly damaging	0.82
R0395:Apol10b	UTSW	15	77,469,840 (GRCm39)	missense	probably damaging	1.00
R0437:Apol10b	UTSW	15	77,469,608 (GRCm39)	missense	probably benign	0.00
R0502:Apol10b	UTSW	15	77,476,349 (GRCm39)	splice site	probably benign
R1663:Apol10b	UTSW	15	77,472,914 (GRCm39)	missense	probably damaging	1.00
R1763:Apol10b	UTSW	15	77,469,215 (GRCm39)	missense	probably benign	0.14
R4884:Apol10b	UTSW	15	77,473,006 (GRCm39)	missense	possibly damaging	0.93
R6177:Apol10b	UTSW	15	77,469,987 (GRCm39)	missense	possibly damaging	0.50
R7062:Apol10b	UTSW	15	77,469,473 (GRCm39)	missense	probably benign	0.00
R7480:Apol10b	UTSW	15	77,472,988 (GRCm39)	missense	probably benign	0.02
R8511:Apol10b	UTSW	15	77,469,211 (GRCm39)	missense	probably benign	0.43
R8511:Apol10b	UTSW	15	77,469,210 (GRCm39)	missense	probably benign	0.03
R8703:Apol10b	UTSW	15	77,472,897 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTAGCTGCTTAGAGGATGGGG -3'
(R):5'- CAGATGAATCTGAAGCCAGTCGCC -3'

Sequencing Primer
(F):5'- GCAGAGCCTTATATATCTGCTCG -3'
(R):5'- CTGGTTAGAGCCAGCATGAATG -3'

Posted On

2013-07-30