Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Ap5m1'

332031

Institutional Source

Beutler Lab

Gene Symbol

Ap5m1

Ensembl Gene

ENSMUSG00000036291

Gene Name

adaptor-related protein complex 5, mu 1 subunit

Synonyms

Mudeng, 4932432K03Rik

MMRRC Submission

041584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49066097-49094234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49073761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 96 (V96A)

Ref Sequence

ENSEMBL: ENSMUSP00000154186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037473] [ENSMUST00000227410] [ENSMUST00000227431] [ENSMUST00000227608] [ENSMUST00000228238]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037473
AA Change: V96A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046536
Gene: ENSMUSG00000036291
AA Change: V96A

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
Pfam:Adap_comp_sub	196	476	3.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227410

Predicted Effect

probably damaging
Transcript: ENSMUST00000227431
AA Change: V96A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227608

Predicted Effect

probably benign
Transcript: ENSMUST00000227991

Predicted Effect

probably damaging
Transcript: ENSMUST00000228238
AA Change: V96A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6024

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,261	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730	N61I	possibly damaging	Het
Atr	T	A	9: 95,865,237	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cnot6l	A	T	5: 96,086,174	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603		probably null	Het
Fgfr3	A	G	5: 33,729,999	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Map3k13	A	G	16: 21,922,178	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883		probably benign	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695	C143*	probably null	Het
Parp4	T	A	14: 56,652,304	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Ric8a	A	G	7: 140,858,516	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc7a5	A	T	8: 121,887,495		probably null	Het
Slc7a9	A	T	7: 35,453,420	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372		probably null	Het
Trpv3	A	G	11: 73,295,324	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,308,819	V137M	probably damaging	Het
Zfp276	G	A	8: 123,264,927		probably null	Het
Zfp90	C	T	8: 106,424,864	P403L	possibly damaging	Het

Other mutations in Ap5m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Ap5m1	APN	14	49073790	missense	probably damaging	1.00
IGL01806:Ap5m1	APN	14	49080340	missense	probably damaging	1.00
IGL02011:Ap5m1	APN	14	49081135	unclassified	probably benign
IGL02165:Ap5m1	APN	14	49078728	missense	possibly damaging	0.94
IGL02203:Ap5m1	APN	14	49080258	missense	probably damaging	1.00
IGL02950:Ap5m1	APN	14	49073935	missense	probably benign	0.44
IGL03123:Ap5m1	APN	14	49073761	missense	probably damaging	1.00
IGL03368:Ap5m1	APN	14	49081136	unclassified	probably benign
R1688:Ap5m1	UTSW	14	49080834	critical splice acceptor site	probably null
R2113:Ap5m1	UTSW	14	49086248	missense	probably damaging	1.00
R2184:Ap5m1	UTSW	14	49086295	missense	probably damaging	1.00
R2220:Ap5m1	UTSW	14	49081095	missense	probably damaging	1.00
R2971:Ap5m1	UTSW	14	49083882	nonsense	probably null
R3425:Ap5m1	UTSW	14	49073683	missense	probably damaging	0.99
R4679:Ap5m1	UTSW	14	49078828	missense	probably benign	0.00
R4799:Ap5m1	UTSW	14	49081070	missense	probably benign	0.08
R6365:Ap5m1	UTSW	14	49078828	missense	probably benign	0.00
R6834:Ap5m1	UTSW	14	49073737	missense	probably damaging	0.99
R7115:Ap5m1	UTSW	14	49086270	nonsense	probably null
R7224:Ap5m1	UTSW	14	49080927	missense	unknown
R7383:Ap5m1	UTSW	14	49074196	missense	possibly damaging	0.77
R7539:Ap5m1	UTSW	14	49073557	missense	probably damaging	1.00
R7866:Ap5m1	UTSW	14	49073761	missense	probably damaging	1.00
R7897:Ap5m1	UTSW	14	49073775	missense	probably benign	0.11
R8853:Ap5m1	UTSW	14	49073880	missense	possibly damaging	0.79
R9236:Ap5m1	UTSW	14	49073607	missense	probably benign	0.00
R9545:Ap5m1	UTSW	14	49073814	missense	possibly damaging	0.76
R9750:Ap5m1	UTSW	14	49080299	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGAGCCAAAGCCTTCAATG -3'
(R):5'- CTGTAGAAGCAAGTCAGGCAAC -3'

Sequencing Primer
(F):5'- GCCAAAGCCTTCAATGGAATG -3'
(R):5'- ACTGACTCAGTTTTGTGTGTAGGTC -3'

Posted On

2015-07-21