Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Ap5b1'

552784

Institutional Source

Beutler Lab

Gene Symbol

Ap5b1

Ensembl Gene

ENSMUSG00000049562

Gene Name

adaptor-related protein complex 5, beta 1 subunit

Synonyms

Gm962

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5618053-5621289 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 5619412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 277 (Y277*)

Ref Sequence

ENSEMBL: ENSMUSP00000094042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096318]

AlphaFold

Q3TAP4

Predicted Effect

probably null
Transcript: ENSMUST00000096318
AA Change: Y277*

SMART Domains

Protein: ENSMUSP00000094042
Gene: ENSMUSG00000049562
AA Change: Y277*

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	68	75	N/A	INTRINSIC
low complexity region	84	104	N/A	INTRINSIC
low complexity region	114	136	N/A	INTRINSIC
low complexity region	185	199	N/A	INTRINSIC
low complexity region	283	301	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
low complexity region	511	524	N/A	INTRINSIC
low complexity region	616	644	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (GRCm39)		probably null	Het

Other mutations in Ap5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Ap5b1	APN	19	5,621,007 (GRCm39)	nonsense	probably null
IGL02121:Ap5b1	APN	19	5,620,815 (GRCm39)	missense	possibly damaging	0.92
R1513:Ap5b1	UTSW	19	5,619,892 (GRCm39)	nonsense	probably null
R2004:Ap5b1	UTSW	19	5,620,502 (GRCm39)	missense	possibly damaging	0.83
R2036:Ap5b1	UTSW	19	5,618,897 (GRCm39)	missense	possibly damaging	0.83
R2282:Ap5b1	UTSW	19	5,619,665 (GRCm39)	missense	possibly damaging	0.66
R3441:Ap5b1	UTSW	19	5,620,011 (GRCm39)	missense	probably benign
R3835:Ap5b1	UTSW	19	5,618,918 (GRCm39)	missense	possibly damaging	0.66
R4241:Ap5b1	UTSW	19	5,618,825 (GRCm39)	missense	possibly damaging	0.92
R5324:Ap5b1	UTSW	19	5,619,863 (GRCm39)	missense	possibly damaging	0.66
R5359:Ap5b1	UTSW	19	5,619,126 (GRCm39)	missense	possibly damaging	0.83
R7102:Ap5b1	UTSW	19	5,620,215 (GRCm39)	missense	possibly damaging	0.92
R8548:Ap5b1	UTSW	19	5,621,123 (GRCm39)	missense	possibly damaging	0.46
Z1088:Ap5b1	UTSW	19	5,620,452 (GRCm39)	missense	possibly damaging	0.82
Z1177:Ap5b1	UTSW	19	5,620,956 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGTGGTACAGTCCAGGTC -3'
(R):5'- AGCTTCATCCTGTGCAGTGAAC -3'

Sequencing Primer
(F):5'- TGGCTGAGGACTTCTCCACTG -3'
(R):5'- TGTGCAGTGAACAGGGCCTC -3'

Posted On

2019-05-15