Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00323:Ap5m1'

8988

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00323

Quality Score

Status

Chromosome

Chromosomal Location

49303869-49331681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49311247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 106 (Y106H)

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: Y106H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046536
Gene: ENSMUSG00000036291
AA Change: Y106H

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: Y106H

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: Y106H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrnl1	C	A	19: 57,680,249 (GRCm39)	N716K	probably benign	Het
Ccnq	A	G	11: 78,641,782 (GRCm39)	V236A	probably benign	Het
Cdk13	A	T	13: 17,895,683 (GRCm39)	N1075K	possibly damaging	Het
Daam1	G	A	12: 72,005,517 (GRCm39)		probably benign	Het
Exd2	T	C	12: 80,522,940 (GRCm39)	V133A	probably damaging	Het
Glrb	T	C	3: 80,769,262 (GRCm39)	D155G	probably damaging	Het
Gm13941	T	A	2: 110,935,198 (GRCm39)	M11L	unknown	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Inpp5d	G	T	1: 87,611,537 (GRCm39)	V329F	probably benign	Het
Lilrb4b	A	T	10: 51,357,347 (GRCm39)	D61V	probably benign	Het
Malt1	T	A	18: 65,582,034 (GRCm39)	C299*	probably null	Het
Or10j27	G	A	1: 172,957,978 (GRCm39)	Q269*	probably null	Het
Or4f14	A	T	2: 111,742,381 (GRCm39)	M298K	possibly damaging	Het
Pigk	C	A	3: 152,453,269 (GRCm39)	S282*	probably null	Het
Pik3r1	T	A	13: 101,827,044 (GRCm39)	M1L	probably benign	Het
Pnpla1	A	G	17: 29,096,416 (GRCm39)	Y165C	probably damaging	Het
Rfx7	A	G	9: 72,524,702 (GRCm39)	N631D	probably damaging	Het
Rp1	T	A	1: 4,416,969 (GRCm39)	D1381V	probably damaging	Het
Rrp8	T	C	7: 105,382,223 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,210,745 (GRCm39)	D1757E	probably benign	Het
Sec62	T	C	3: 30,864,591 (GRCm39)		probably benign	Het
Smarca5	G	A	8: 81,440,670 (GRCm39)	T598M	probably benign	Het
Sptbn5	T	C	2: 119,884,948 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,141,885 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,861,263 (GRCm39)	E71D	probably benign	Het
Trhde	A	T	10: 114,322,652 (GRCm39)	S716R	possibly damaging	Het
Ttn	T	C	2: 76,726,859 (GRCm39)		probably benign	Het
Wscd2	A	C	5: 113,689,236 (GRCm39)	T81P	possibly damaging	Het
Zfp335	G	A	2: 164,734,302 (GRCm39)	T1295I	probably damaging	Het

Other mutations in Ap5m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06