Mutagenetix > Incidental Mutation

Incidental Mutation 'R9545:Ap5m1'

720080

Institutional Source

Beutler Lab

Gene Symbol

Ap5m1

Ensembl Gene

ENSMUSG00000036291

Gene Name

adaptor-related protein complex 5, mu 1 subunit

Synonyms

Mudeng, 4932432K03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49303869-49331681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 49311271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 114 (Q114E)

Ref Sequence

ENSEMBL: ENSMUSP00000046536 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037473
AA Change: Q114E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046536
Gene: ENSMUSG00000036291
AA Change: Q114E

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 benign
Transcript: ENSMUST00000227431
AA Change: Q114E

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000227608

Predicted Effect

probably benign
Transcript: ENSMUST00000227991

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228238
AA Change: Q114E

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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
Abca13	T	A	11: 9,416,538 (GRCm39)	L4100Q	probably damaging	Het
Acss2	C	A	2: 155,403,716 (GRCm39)	P652T	probably damaging	Het
Agl	A	T	3: 116,582,338 (GRCm39)	I228N	possibly damaging	Het
Apob	C	T	12: 8,033,890 (GRCm39)	T201I	possibly damaging	Het
As3mt	G	A	19: 46,696,233 (GRCm39)	V14I	probably damaging	Het
Atp1a4	T	C	1: 172,078,464 (GRCm39)	N258S	probably benign	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
B4galnt4	T	C	7: 140,644,804 (GRCm39)	V208A	probably benign	Het
Bet1	A	T	6: 4,077,973 (GRCm39)	S89T	probably damaging	Het
Cdhr1	T	G	14: 36,817,016 (GRCm39)	N115T	possibly damaging	Het
Cstf1	C	T	2: 172,212,885 (GRCm39)		probably benign	Het
Dcdc2c	G	T	12: 28,602,295 (GRCm39)	T3K	possibly damaging	Het
Deup1	C	T	9: 15,519,120 (GRCm39)	E129K	possibly damaging	Het
Dgkg	T	C	16: 22,385,168 (GRCm39)	E446G	possibly damaging	Het
Dolk	A	G	2: 30,176,016 (GRCm39)	S10P	probably benign	Het
Gm1110	T	C	9: 26,800,977 (GRCm39)	T406A	probably benign	Het
Gm8439	C	T	4: 120,445,957 (GRCm39)		probably benign	Het
Gna12	A	G	5: 140,746,575 (GRCm39)	I290T	probably damaging	Het
Gtf2h1	T	C	7: 46,458,112 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Kcnc3	T	C	7: 44,245,357 (GRCm39)	L549P	probably damaging	Het
Klhl26	T	C	8: 70,904,164 (GRCm39)	D582G	probably damaging	Het
Lhfpl5	C	A	17: 28,799,079 (GRCm39)	A196D	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Lrp6	A	G	6: 134,483,329 (GRCm39)	Y459H	probably damaging	Het
Lzts1	C	A	8: 69,591,286 (GRCm39)	K287N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmp23	T	A	4: 155,735,980 (GRCm39)	Q224L	probably benign	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Ms4a2	A	G	19: 11,596,237 (GRCm39)	F164S	probably benign	Het
Nudt15	A	T	14: 73,760,918 (GRCm39)	C58S	probably damaging	Het
Or2w25	A	G	11: 59,504,275 (GRCm39)	T162A	probably benign	Het
Or8h6	T	C	2: 86,703,615 (GRCm39)	I151V	probably benign	Het
Or9i1	A	G	19: 13,839,217 (GRCm39)	H20R	possibly damaging	Het
Panx3	A	G	9: 37,575,437 (GRCm39)	F142L	probably damaging	Het
Pik3r6	T	C	11: 68,422,365 (GRCm39)	Y255H	probably damaging	Het
Pnpt1	T	C	11: 29,106,840 (GRCm39)	V637A	probably benign	Het
Ppfibp2	T	C	7: 107,337,504 (GRCm39)	L602P	probably damaging	Het
Ppp2r3d	T	C	9: 101,089,214 (GRCm39)	N370D	probably benign	Het
Ppp2r5d	A	T	17: 46,995,687 (GRCm39)	I454N	probably damaging	Het
Pramel17	C	A	4: 101,693,097 (GRCm39)	C301F	probably damaging	Het
Radil	A	G	5: 142,492,392 (GRCm39)	V412A	probably benign	Het
Reep3	TTGACAGATTTCATG	TTG	10: 66,850,703 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic3	T	A	13: 76,259,832 (GRCm39)	V44D	probably damaging	Het
Spink5	G	A	18: 44,136,262 (GRCm39)	V558I	possibly damaging	Het
Stxbp5l	T	C	16: 37,028,625 (GRCm39)		probably null	Het
Svs5	T	A	2: 164,079,313 (GRCm39)	Q198L	possibly damaging	Het
Thap2	A	T	10: 115,208,834 (GRCm39)	N95K	probably benign	Het
Tie1	A	G	4: 118,336,112 (GRCm39)	V718A	probably benign	Het
Trpm3	G	A	19: 22,878,458 (GRCm39)	E632K	probably benign	Het
Ube4a	A	T	9: 44,843,638 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,618,511 (GRCm39)	I1163T	probably benign	Het
Vav2	C	T	2: 27,173,351 (GRCm39)	R491Q	probably damaging	Het
Wapl	T	A	14: 34,399,050 (GRCm39)	F40I	probably damaging	Het
Wdfy3	A	C	5: 102,100,957 (GRCm39)	I220R		Het
Xrra1	T	A	7: 99,535,334 (GRCm39)	V213D	possibly damaging	Het
Zwilch	A	T	9: 64,051,415 (GRCm39)	V550E	probably damaging	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
R7866:Ap5m1	UTSW	14	49,311,218 (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
R9750:Ap5m1	UTSW	14	49,317,756 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGGCCCCTTTCTTAGAGC -3'
(R):5'- GTGAATTCTGCAAGTTAGCATCC -3'

Sequencing Primer
(F):5'- AGCATTGCTCTTTCAACTTAGAC -3'
(R):5'- TGCAAGTTAGCATCCAATAAAGTACC -3'

Posted On

2022-07-18