Mutagenetix > Incidental Mutation

Incidental Mutation 'R3956:Aagab'

310705

Institutional Source

Beutler Lab

Gene Symbol

Aagab

Ensembl Gene

ENSMUSG00000037257

Gene Name

alpha- and gamma-adaptin binding protein

Synonyms

2310007F21Rik

MMRRC Submission

040833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R3956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63509942-63551870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63526442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 155 (E155G)

Ref Sequence

ENSEMBL: ENSMUSP00000048595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041551] [ENSMUST00000213880]

AlphaFold

Q8R2R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000041551
AA Change: E155G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257
AA Change: E155G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_binding	155	295	3.8e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213880
AA Change: E67G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.7093

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Abca16	A	G	7: 120,126,975 (GRCm39)	N1221S	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Acsl1	T	A	8: 46,987,495 (GRCm39)	L693Q	probably damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
B3gat1	A	G	9: 26,668,324 (GRCm39)	T305A	possibly damaging	Het
BC051076	A	G	5: 88,112,110 (GRCm39)		noncoding transcript	Het
Ccni	A	G	5: 93,331,263 (GRCm39)	L236S	probably damaging	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cdc45	A	G	16: 18,624,180 (GRCm39)	V119A	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,469,190 (GRCm39)	D340G	possibly damaging	Het
Cyrib	T	C	15: 63,813,823 (GRCm39)	Y158C	probably damaging	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	T	A	11: 69,374,847 (GRCm39)	I1417L	probably benign	Het
Efhc1	A	C	1: 21,048,890 (GRCm39)	K434N	probably damaging	Het
Evi5l	T	C	8: 4,241,358 (GRCm39)	V297A	possibly damaging	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gfod1	A	T	13: 43,354,538 (GRCm39)	C146S	probably damaging	Het
Greb1	G	T	12: 16,732,300 (GRCm39)	P1554T	probably damaging	Het
Grip1	A	T	10: 119,765,931 (GRCm39)	I88F	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2e	A	G	5: 23,701,023 (GRCm39)	T121A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mfsd2b	A	T	12: 4,916,848 (GRCm39)	F194Y	probably damaging	Het
Mtmr3	A	T	11: 4,441,138 (GRCm39)	V504E	probably damaging	Het
Neb	C	T	2: 52,091,975 (GRCm39)	V5030M	possibly damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or5ac17	G	A	16: 59,036,428 (GRCm39)	Q183*	probably null	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5al5	C	T	2: 85,961,363 (GRCm39)	V215I	probably benign	Het
Pmfbp1	A	G	8: 110,256,801 (GRCm39)	S502G	probably benign	Het
Prb1c	G	T	6: 132,338,814 (GRCm39)	Q135K	unknown	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Riok3	T	A	18: 12,276,031 (GRCm39)	Y242*	probably null	Het
Robo2	T	G	16: 73,758,755 (GRCm39)	Y672S	probably damaging	Het
Rsbn1	A	G	3: 103,835,991 (GRCm39)	H343R	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Spmip9	A	G	6: 70,890,469 (GRCm39)	Y108H	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tlcd5	C	A	9: 43,022,808 (GRCm39)	C182F	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Top6bl	T	A	19: 4,742,525 (GRCm39)	T214S	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Umodl1	A	G	17: 31,221,837 (GRCm39)	T1280A	probably benign	Het
Xpnpep3	A	G	15: 81,335,230 (GRCm39)		probably benign	Het

Other mutations in Aagab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Aagab	APN	9	63,546,901 (GRCm39)	missense	probably damaging	1.00
IGL01293:Aagab	APN	9	63,543,751 (GRCm39)	missense	probably benign
IGL01782:Aagab	APN	9	63,523,995 (GRCm39)	missense	probably benign	0.00
IGL02505:Aagab	APN	9	63,524,096 (GRCm39)	missense	probably damaging	0.99
IGL03085:Aagab	APN	9	63,546,316 (GRCm39)	splice site	probably benign
IGL03172:Aagab	APN	9	63,542,676 (GRCm39)	intron	probably benign
R0326:Aagab	UTSW	9	63,526,444 (GRCm39)	missense	probably damaging	0.96
R0879:Aagab	UTSW	9	63,524,892 (GRCm39)	splice site	probably benign
R2141:Aagab	UTSW	9	63,523,957 (GRCm39)	splice site	probably null
R2142:Aagab	UTSW	9	63,523,957 (GRCm39)	splice site	probably null
R3954:Aagab	UTSW	9	63,526,442 (GRCm39)	missense	probably damaging	0.99
R4886:Aagab	UTSW	9	63,543,738 (GRCm39)	missense	possibly damaging	0.69
R6193:Aagab	UTSW	9	63,524,795 (GRCm39)	missense	possibly damaging	0.94
R7899:Aagab	UTSW	9	63,524,132 (GRCm39)	missense	probably benign	0.08
R9057:Aagab	UTSW	9	63,524,782 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCTCTGAGCCCTGTGTTTG -3'
(R):5'- CACAGGGTAAAGGTAACGCTGTC -3'

Sequencing Primer
(F):5'- ACATGATGAAGCGACAGC -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'

Posted On

2015-04-29