Mutagenetix > Incidental Mutation

Incidental Mutation 'R2178:Apon'

237011

Institutional Source

Beutler Lab

Gene Symbol

Apon

Ensembl Gene

ENSMUSG00000051716

Gene Name

apolipoprotein N

Synonyms

D10Ucla2

MMRRC Submission

040180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128090000-128091770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128090634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 104 (A104E)

Ref Sequence

ENSEMBL: ENSMUSP00000151553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055539] [ENSMUST00000060782] [ENSMUST00000105242] [ENSMUST00000105244] [ENSMUST00000105245] [ENSMUST00000218722]

AlphaFold

G3X9D6

Predicted Effect

probably benign
Transcript: ENSMUST00000055539

SMART Domains

Protein: ENSMUSP00000058021
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.2e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1197	1.9e-186	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060782
AA Change: A104E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000059142
Gene: ENSMUSG00000051716
AA Change: A104E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipo_F	50	247	2.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105240

Predicted Effect

probably benign
Transcript: ENSMUST00000105242

SMART Domains

Protein: ENSMUSP00000100876
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.1e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	4.4e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105244

SMART Domains

Protein: ENSMUSP00000100878
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.3e-103	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	5e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105245

SMART Domains

Protein: ENSMUSP00000100879
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	24	284	1.1e-81	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1197	1.9e-186	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145710

Predicted Effect

probably benign
Transcript: ENSMUST00000218722
AA Change: A104E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	A	T	15: 98,492,236 (GRCm39)	N1007K	probably damaging	Het
Cdh15	T	A	8: 123,591,715 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,779,297 (GRCm39)	V769A	probably benign	Het
Cep152	A	T	2: 125,421,954 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,711,863 (GRCm39)	N711D	probably damaging	Het
Col1a2	T	C	6: 4,531,143 (GRCm39)	F731L	unknown	Het
Cpt1b	T	C	15: 89,303,246 (GRCm39)	E603G	probably damaging	Het
Cspp1	T	G	1: 10,174,471 (GRCm39)	D641E	possibly damaging	Het
Ddr2	C	T	1: 169,822,251 (GRCm39)	R399Q	probably benign	Het
Dzip1	T	C	14: 119,126,816 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,746,388 (GRCm39)	V1294A	probably damaging	Het
Hmgb4	A	G	4: 128,154,275 (GRCm39)	S98P	probably damaging	Het
Kif12	G	A	4: 63,085,196 (GRCm39)	P515L	probably benign	Het
Kmt5b	A	C	19: 3,865,372 (GRCm39)	E789A	possibly damaging	Het
Lama1	G	T	17: 68,076,510 (GRCm39)	V1095F	probably benign	Het
Leprot	T	C	4: 101,513,308 (GRCm39)	V32A	probably benign	Het
Mcoln1	A	G	8: 3,558,766 (GRCm39)	T255A	probably damaging	Het
Mertk	G	A	2: 128,634,984 (GRCm39)	E765K	probably damaging	Het
Muc5b	A	G	7: 141,417,853 (GRCm39)	T3600A	possibly damaging	Het
Ncapd3	A	T	9: 26,999,845 (GRCm39)	E1395V	probably benign	Het
Ntrk2	T	C	13: 58,956,616 (GRCm39)	F25S	probably benign	Het
Or2a5	A	G	6: 42,873,732 (GRCm39)	M116V	probably benign	Het
Or6z1	G	T	7: 6,504,487 (GRCm39)	A246D	probably damaging	Het
Or7c70	T	A	10: 78,683,612 (GRCm39)	I46F	probably damaging	Het
Pappa	C	A	4: 65,269,924 (GRCm39)	H1613N	probably benign	Het
Polq	T	C	16: 36,883,191 (GRCm39)	V1785A	probably damaging	Het
Pramel23	A	T	4: 143,424,612 (GRCm39)	I277K	possibly damaging	Het
Prkar2a	T	C	9: 108,617,737 (GRCm39)		probably null	Het
Qrich2	T	C	11: 116,334,603 (GRCm39)	D2194G	probably damaging	Het
Rnf183	T	C	4: 62,346,333 (GRCm39)	N155S	probably benign	Het
S1pr5	T	C	9: 21,155,760 (GRCm39)	N222S	probably benign	Het
Scnn1a	C	T	6: 125,307,965 (GRCm39)	R170C	probably damaging	Het
Slc25a2	T	C	18: 37,771,311 (GRCm39)	T73A	probably benign	Het
Tgfb1	A	G	7: 25,404,234 (GRCm39)	N347S	probably damaging	Het
Ticrr	T	C	7: 79,315,433 (GRCm39)	V229A	probably benign	Het
Tjp3	T	C	10: 81,115,941 (GRCm39)	E313G	probably benign	Het
Tnfsf11	A	G	14: 78,521,682 (GRCm39)	S176P	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vps39	C	A	2: 120,154,160 (GRCm39)	E612*	probably null	Het
Vwf	T	A	6: 125,619,095 (GRCm39)	Y1258N	possibly damaging	Het

Other mutations in Apon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02535:Apon	APN	10	128,090,823 (GRCm39)	missense	probably damaging	1.00
IGL03340:Apon	APN	10	128,090,847 (GRCm39)	missense	probably benign	0.01
R1704:Apon	UTSW	10	128,090,865 (GRCm39)	missense	probably damaging	1.00
R4853:Apon	UTSW	10	128,090,951 (GRCm39)	missense	probably benign	0.13
R5323:Apon	UTSW	10	128,090,907 (GRCm39)	missense	probably damaging	1.00
R6385:Apon	UTSW	10	128,090,223 (GRCm39)	start gained	probably benign
R7354:Apon	UTSW	10	128,090,607 (GRCm39)	missense	probably benign	0.18
R7567:Apon	UTSW	10	128,090,922 (GRCm39)	missense	possibly damaging	0.73
R7759:Apon	UTSW	10	128,090,384 (GRCm39)	missense	probably benign	0.00
R7858:Apon	UTSW	10	128,090,328 (GRCm39)	missense	probably benign	0.07
R8467:Apon	UTSW	10	128,091,002 (GRCm39)	missense	probably benign
R8680:Apon	UTSW	10	128,090,428 (GRCm39)	missense	probably benign	0.00
R9187:Apon	UTSW	10	128,090,832 (GRCm39)	missense	probably benign	0.00
R9779:Apon	UTSW	10	128,091,065 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GTGCTCCCCAACAAGATTCC -3'
(R):5'- CAATAGGAGGGAGCTTGTTCG -3'

Sequencing Primer
(F):5'- GCTCCCCAACAAGATTCCTCCTC -3'
(R):5'- AGCACCTGGGCCATATCGTAC -3'

Posted On

2014-10-02