Mutagenetix > Incidental Mutation

Incidental Mutation 'R5456:Apmap'

432744

Institutional Source

Beutler Lab

Gene Symbol

Apmap

Ensembl Gene

ENSMUSG00000033096

Gene Name

adipocyte plasma membrane associated protein

Synonyms

2310001A20Rik

MMRRC Submission

043019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150425000-150450487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150431989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 128 (I128L)

Ref Sequence

ENSEMBL: ENSMUSP00000040840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046399]

AlphaFold

Q9D7N9

Predicted Effect

probably benign
Transcript: ENSMUST00000046399
AA Change: I128L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040840
Gene: ENSMUSG00000033096
AA Change: I128L

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
Pfam:SGL	101	327	1.4e-17	PFAM
Pfam:Str_synth	200	288	1.2e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145325

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,889,759 (GRCm39)	D37G	probably damaging	Het
Adcy5	T	C	16: 35,118,892 (GRCm39)	F1081S	probably damaging	Het
Arhgap12	G	A	18: 6,112,170 (GRCm39)	Q65*	probably null	Het
Baat	C	T	4: 49,502,949 (GRCm39)	V58I	possibly damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bend3	T	C	10: 43,386,542 (GRCm39)	Y312H	probably damaging	Het
Btnl2	A	T	17: 34,582,295 (GRCm39)	Y287F	probably benign	Het
Cd22	T	C	7: 30,575,464 (GRCm39)	I193V	probably benign	Het
Commd3	A	G	2: 18,678,968 (GRCm39)	E95G	probably damaging	Het
Dcbld1	A	G	10: 52,190,486 (GRCm39)	D215G	probably damaging	Het
Elfn1	A	G	5: 139,958,571 (GRCm39)	Y525C	probably damaging	Het
Fam83b	T	C	9: 76,399,877 (GRCm39)	T409A	probably benign	Het
Fshr	T	A	17: 89,293,776 (GRCm39)	I301F	probably benign	Het
Hemgn	C	T	4: 46,396,571 (GRCm39)	V222M	probably damaging	Het
Igsf3	C	T	3: 101,334,537 (GRCm39)	H205Y	probably benign	Het
Mfsd1	T	C	3: 67,497,166 (GRCm39)	I147T	probably benign	Het
Mslnl	A	G	17: 25,962,133 (GRCm39)	D177G	probably damaging	Het
Nat2	G	A	8: 67,954,225 (GRCm39)	V112I	probably damaging	Het
Or4c10b	G	A	2: 89,711,602 (GRCm39)	G144E	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pabpc1l	T	C	2: 163,869,580 (GRCm39)	S127P	probably damaging	Het
Poln	A	T	5: 34,164,786 (GRCm39)	L845Q	possibly damaging	Het
Ppm1f	T	A	16: 16,741,610 (GRCm39)	D361E	probably damaging	Het
Rapgef5	T	A	12: 117,692,381 (GRCm39)		probably null	Het
Rarb	G	A	14: 16,436,843 (GRCm38)	T226I	probably damaging	Het
Sel1l3	T	C	5: 53,357,378 (GRCm39)	K205E	probably benign	Het
Sh3glb1	T	A	3: 144,415,114 (GRCm39)	I75L	probably benign	Het
Srgap1	G	A	10: 121,705,716 (GRCm39)	S236L	probably benign	Het
Tmco3	A	G	8: 13,369,815 (GRCm39)	Y609C	probably damaging	Het
Trhde	A	G	10: 114,322,665 (GRCm39)	V712A	possibly damaging	Het
Trim13	A	G	14: 61,842,523 (GRCm39)	D180G	possibly damaging	Het
Tst	T	C	15: 78,284,158 (GRCm39)	E223G	probably damaging	Het
Umodl1	A	G	17: 31,201,263 (GRCm39)	I397M	probably benign	Het
Usp31	T	C	7: 121,269,500 (GRCm39)	D481G	probably damaging	Het
Vps13c	T	A	9: 67,834,729 (GRCm39)	M1686K	possibly damaging	Het
Wdr83	T	C	8: 85,806,837 (GRCm39)	H81R	probably benign	Het

Other mutations in Apmap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03135:Apmap	APN	2	150,429,035 (GRCm39)	missense	possibly damaging	0.89
R0898:Apmap	UTSW	2	150,427,669 (GRCm39)	splice site	probably benign
R2267:Apmap	UTSW	2	150,430,821 (GRCm39)	critical splice donor site	probably null
R4171:Apmap	UTSW	2	150,425,987 (GRCm39)	missense	probably benign	0.01
R5815:Apmap	UTSW	2	150,442,171 (GRCm39)	missense	probably benign	0.00
R5838:Apmap	UTSW	2	150,427,777 (GRCm39)	missense	probably damaging	1.00
R5846:Apmap	UTSW	2	150,450,341 (GRCm39)	missense	probably damaging	0.99
R6117:Apmap	UTSW	2	150,442,252 (GRCm39)	missense	probably benign	0.13
R6899:Apmap	UTSW	2	150,436,228 (GRCm39)	missense	probably benign	0.07
R8527:Apmap	UTSW	2	150,428,385 (GRCm39)	missense	probably benign	0.21
R8542:Apmap	UTSW	2	150,428,385 (GRCm39)	missense	probably benign	0.21
R8734:Apmap	UTSW	2	150,430,824 (GRCm39)	missense	probably benign	0.05
R8867:Apmap	UTSW	2	150,431,886 (GRCm39)	intron	probably benign
R9046:Apmap	UTSW	2	150,426,093 (GRCm39)	missense	probably benign	0.10
R9556:Apmap	UTSW	2	150,429,035 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CACTGCCCAACTGGACACTC -3'
(R):5'- ACCTGCTGGCTTGTTTCTTTACA -3'

Sequencing Primer
(F):5'- CTCCAAGGCCAGATGACTG -3'
(R):5'- CATATCACCATCATTTTCAGAATTGC -3'

Posted On

2016-10-06