Mutagenetix > Incidental Mutation

Incidental Mutation 'R7866:Ap5m1'

607797

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

045918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49303869-49331681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49311218 bp (GRCm39)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,317,269 (GRCm39)	R194*	probably null	Het
Actl6a	A	G	3: 32,766,262 (GRCm39)	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,550,257 (GRCm39)	C624*	probably null	Het
Adgrl1	T	C	8: 84,664,564 (GRCm39)		probably null	Het
Ap3m2	A	G	8: 23,289,674 (GRCm39)	V143A	probably benign	Het
Aqp5	T	A	15: 99,489,424 (GRCm39)	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,742,350 (GRCm39)	I181N	probably damaging	Het
Ccp110	T	A	7: 118,322,241 (GRCm39)	M632K	probably benign	Het
Cd44	A	T	2: 102,672,604 (GRCm39)		probably null	Het
Cidea	G	A	18: 67,491,854 (GRCm39)	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,245,042 (GRCm39)	I86T	probably benign	Het
Col14a1	C	A	15: 55,252,016 (GRCm39)	D557E	unknown	Het
Col6a6	T	C	9: 105,566,760 (GRCm39)	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,725,092 (GRCm39)	N196Y	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dpep2	T	C	8: 106,716,113 (GRCm39)	T267A		Het
Dtx3l	T	A	16: 35,759,120 (GRCm39)	Q43L	probably benign	Het
Ednrb	A	G	14: 104,080,738 (GRCm39)	S59P	probably benign	Het
Eml4	A	G	17: 83,758,126 (GRCm39)	T435A	probably benign	Het
Fam135b	A	T	15: 71,333,925 (GRCm39)	F1090I	probably benign	Het
Filip1	A	G	9: 79,726,225 (GRCm39)	V798A	probably benign	Het
Fnip1	T	G	11: 54,356,228 (GRCm39)		probably benign	Het
Gabrb2	C	T	11: 42,378,050 (GRCm39)	Q89*	probably null	Het
Gtf2ird1	A	T	5: 134,392,063 (GRCm39)	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804 (GRCm39)	M1K	probably null	Het
Ift70b	A	G	2: 75,766,963 (GRCm39)	S597P	possibly damaging	Het
Igkv10-96	T	A	6: 68,609,025 (GRCm39)	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,608,740 (GRCm39)	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,035,847 (GRCm39)	A45D	probably damaging	Het
Klk1b22	A	T	7: 43,762,168 (GRCm39)	I15F	possibly damaging	Het
Lamp3	T	A	16: 19,518,490 (GRCm39)	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,022,149 (GRCm39)	V125A	possibly damaging	Het
Mprip	G	A	11: 59,643,756 (GRCm39)	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,349,589 (GRCm39)	M501V	probably benign	Het
Myo5a	C	T	9: 75,111,034 (GRCm39)	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,258,554 (GRCm39)	Y63C	probably damaging	Het
Oit3	A	G	10: 59,259,852 (GRCm39)	V517A	probably benign	Het
Or8g21	A	T	9: 38,906,027 (GRCm39)	S235T	not run	Het
Pcdhb18	T	A	18: 37,623,512 (GRCm39)	F281I	probably damaging	Het
Pkd1	C	A	17: 24,809,881 (GRCm39)	Q3520K	probably benign	Het
Plxnb1	T	A	9: 108,929,525 (GRCm39)	I127N	probably damaging	Het
Ppfia2	A	T	10: 106,655,390 (GRCm39)	N319I	probably damaging	Het
Pxn	T	C	5: 115,686,665 (GRCm39)	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,714,738 (GRCm39)	V104I	probably benign	Het
Rp1	C	T	1: 4,417,924 (GRCm39)	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,399,532 (GRCm39)	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,724 (GRCm39)	I277N	probably damaging	Het
Spc25	A	G	2: 69,036,406 (GRCm39)		probably null	Het
Tex29	A	G	8: 11,894,055 (GRCm39)	N6D	unknown	Het
Top6bl	T	A	19: 4,748,514 (GRCm39)	R61S	unknown	Het
Ttc6	G	A	12: 57,721,435 (GRCm39)	A975T	probably damaging	Het
Uba6	T	C	5: 86,320,560 (GRCm39)	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927 (GRCm39)	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,240,190 (GRCm39)	D65V	probably damaging	Het
Unc93b1	A	T	19: 3,985,243 (GRCm39)	D17V	not run	Het
Usf1	G	T	1: 171,245,462 (GRCm39)	W291C	unknown	Het
Vps29	T	C	5: 122,500,180 (GRCm39)	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,319,577 (GRCm39)	E117G	probably damaging	Het
Zfp735	A	C	11: 73,601,629 (GRCm39)	D191A	probably benign	Het

Other mutations in Ap5m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Ap5m1	APN	14	49,311,247 (GRCm39)	missense	probably damaging	1.00
IGL01806:Ap5m1	APN	14	49,317,797 (GRCm39)	missense	probably damaging	1.00
IGL02011:Ap5m1	APN	14	49,318,592 (GRCm39)	unclassified	probably benign
IGL02165:Ap5m1	APN	14	49,316,185 (GRCm39)	missense	possibly damaging	0.94
IGL02203:Ap5m1	APN	14	49,317,715 (GRCm39)	missense	probably damaging	1.00
IGL02950:Ap5m1	APN	14	49,311,392 (GRCm39)	missense	probably benign	0.44
IGL03123:Ap5m1	APN	14	49,311,218 (GRCm39)	missense	probably damaging	1.00
IGL03368:Ap5m1	APN	14	49,318,593 (GRCm39)	unclassified	probably benign
R1688:Ap5m1	UTSW	14	49,318,291 (GRCm39)	critical splice acceptor site	probably null
R2113:Ap5m1	UTSW	14	49,323,705 (GRCm39)	missense	probably damaging	1.00
R2184:Ap5m1	UTSW	14	49,323,752 (GRCm39)	missense	probably damaging	1.00
R2220:Ap5m1	UTSW	14	49,318,552 (GRCm39)	missense	probably damaging	1.00
R2971:Ap5m1	UTSW	14	49,321,339 (GRCm39)	nonsense	probably null
R3425:Ap5m1	UTSW	14	49,311,140 (GRCm39)	missense	probably damaging	0.99
R4506:Ap5m1	UTSW	14	49,311,218 (GRCm39)	missense	probably damaging	1.00
R4679:Ap5m1	UTSW	14	49,316,285 (GRCm39)	missense	probably benign	0.00
R4799:Ap5m1	UTSW	14	49,318,527 (GRCm39)	missense	probably benign	0.08
R6365:Ap5m1	UTSW	14	49,316,285 (GRCm39)	missense	probably benign	0.00
R6834:Ap5m1	UTSW	14	49,311,194 (GRCm39)	missense	probably damaging	0.99
R7115:Ap5m1	UTSW	14	49,323,727 (GRCm39)	nonsense	probably null
R7224:Ap5m1	UTSW	14	49,318,384 (GRCm39)	missense	unknown
R7383:Ap5m1	UTSW	14	49,311,653 (GRCm39)	missense	possibly damaging	0.77
R7539:Ap5m1	UTSW	14	49,311,014 (GRCm39)	missense	probably damaging	1.00
R7897:Ap5m1	UTSW	14	49,311,232 (GRCm39)	missense	probably benign	0.11
R8853:Ap5m1	UTSW	14	49,311,337 (GRCm39)	missense	possibly damaging	0.79
R9236:Ap5m1	UTSW	14	49,311,064 (GRCm39)	missense	probably benign	0.00
R9545:Ap5m1	UTSW	14	49,311,271 (GRCm39)	missense	possibly damaging	0.76
R9750:Ap5m1	UTSW	14	49,317,756 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCAAAGCCTTCAATGGAATG -3'
(R):5'- ACAAGCCTGTAGAAGCAAGTC -3'

Sequencing Primer
(F):5'- GCCTTCAATGGAATGACTTATGTTCC -3'
(R):5'- CCTGTAGAAGCAAGTCAGGCAAC -3'

Posted On

2019-12-20