Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02661:Ap1s1'

302557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1s1

Ensembl Gene

ENSMUSG00000004849

Gene Name

adaptor protein complex AP-1, sigma 1

Synonyms

AP19

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

IGL02661

Quality Score

Status

Chromosome

Chromosomal Location

137063847-137074962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137066327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000115941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041543] [ENSMUST00000111080] [ENSMUST00000144303] [ENSMUST00000150603] [ENSMUST00000186451] [ENSMUST00000190827]

AlphaFold

P61967

Predicted Effect

probably benign
Transcript: ENSMUST00000041543

SMART Domains

Protein: ENSMUSP00000048273
Gene: ENSMUSG00000037428

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111080
AA Change: D125G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: D125G

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	142	5.6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144303
AA Change: D125G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: D125G

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	142	5.2e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150603
AA Change: D158G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: D158G

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	34	175	2.4e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154183

Predicted Effect

probably benign
Transcript: ENSMUST00000186451

SMART Domains

Protein: ENSMUSP00000140735
Gene: ENSMUSG00000037428

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190827

SMART Domains

Protein: ENSMUSP00000140815
Gene: ENSMUSG00000037428

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	G	T	18: 52,793,566 (GRCm39)	W33L	probably damaging	Het
Adam34	A	T	8: 44,104,572 (GRCm39)	C358S	probably damaging	Het
Ak5	C	A	3: 152,169,593 (GRCm39)	V561F	probably benign	Het
Bard1	A	G	1: 71,114,469 (GRCm39)	S171P	probably damaging	Het
Bsn	A	C	9: 107,984,135 (GRCm39)	Y534*	probably null	Het
Clcn4	A	T	7: 7,294,730 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,124,887 (GRCm39)	T4A	probably benign	Het
Dnajc10	T	A	2: 80,157,084 (GRCm39)		probably benign	Het
Dtl	G	T	1: 191,273,483 (GRCm39)	T475N	probably benign	Het
Eif3m	T	C	2: 104,835,314 (GRCm39)	Y120C	probably damaging	Het
Gab1	A	G	8: 81,515,566 (GRCm39)	S251P	probably damaging	Het
Gba1	T	A	3: 89,110,834 (GRCm39)	V14E	probably benign	Het
Ggcx	C	T	6: 72,395,343 (GRCm39)	P145S	possibly damaging	Het
Gm13889	G	A	2: 93,787,024 (GRCm39)	T150I	probably benign	Het
Gm4978	C	A	9: 69,358,180 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,762,821 (GRCm39)	D850G	probably damaging	Het
Hspa1l	A	G	17: 35,196,251 (GRCm39)	I97V	probably benign	Het
Ighv1-4	T	G	12: 114,450,850 (GRCm39)	K86T	probably damaging	Het
Ints4	C	A	7: 97,144,912 (GRCm39)	L175I	probably benign	Het
Kif13b	T	G	14: 65,005,140 (GRCm39)	V1144G	probably benign	Het
Kpna3	T	A	14: 61,610,398 (GRCm39)		probably benign	Het
Man2c1	A	G	9: 57,044,766 (GRCm39)	D371G	probably damaging	Het
Mtf1	T	C	4: 124,718,902 (GRCm39)	L305P	probably damaging	Het
Myo15b	T	G	11: 115,774,895 (GRCm39)	V2139G	probably benign	Het
Nalcn	T	C	14: 123,830,321 (GRCm39)		probably benign	Het
Neurod2	T	C	11: 98,218,405 (GRCm39)	Q253R	possibly damaging	Het
Nfkbil1	C	A	17: 35,439,647 (GRCm39)	A289S	probably benign	Het
Or4k35	T	A	2: 111,099,811 (GRCm39)	R300S	possibly damaging	Het
Paxbp1	A	T	16: 90,827,413 (GRCm39)	I474K	probably benign	Het
Pde6c	A	T	19: 38,169,248 (GRCm39)	I798F	probably damaging	Het
Pon3	T	A	6: 5,256,205 (GRCm39)	T8S	probably benign	Het
Prkdc	A	G	16: 15,587,689 (GRCm39)	T2525A	possibly damaging	Het
Rnase10	T	G	14: 51,247,273 (GRCm39)	V180G	probably damaging	Het
Rreb1	T	A	13: 38,114,778 (GRCm39)	C712*	probably null	Het
Scamp2	T	C	9: 57,494,697 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,515 (GRCm39)	K51*	probably null	Het
Smyd4	C	A	11: 75,281,767 (GRCm39)	C413*	probably null	Het
Spata2	C	T	2: 167,325,281 (GRCm39)	V513M	probably damaging	Het
Sri	T	A	5: 8,113,252 (GRCm39)		probably benign	Het
Urah	A	T	7: 140,417,618 (GRCm39)	K119M	probably damaging	Het
Wdr19	C	T	5: 65,403,151 (GRCm39)	T1005I	probably benign	Het

Other mutations in Ap1s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Ap1s1	APN	5	137,070,663 (GRCm39)	missense	probably damaging	1.00
IGL01621:Ap1s1	APN	5	137,070,658 (GRCm39)	nonsense	probably null
IGL02850:Ap1s1	APN	5	137,070,634 (GRCm39)	missense	possibly damaging	0.91
R1597:Ap1s1	UTSW	5	137,072,095 (GRCm39)	missense	probably damaging	0.99
R2257:Ap1s1	UTSW	5	137,070,633 (GRCm39)	missense	possibly damaging	0.94
R2964:Ap1s1	UTSW	5	137,066,357 (GRCm39)	missense	probably damaging	1.00
R2966:Ap1s1	UTSW	5	137,066,357 (GRCm39)	missense	probably damaging	1.00
R5690:Ap1s1	UTSW	5	137,066,233 (GRCm39)	unclassified	probably benign
R6164:Ap1s1	UTSW	5	137,066,240 (GRCm39)	unclassified	probably benign
R7650:Ap1s1	UTSW	5	137,074,387 (GRCm39)	missense	probably benign
R9530:Ap1s1	UTSW	5	137,064,612 (GRCm39)	missense	probably benign
Z1176:Ap1s1	UTSW	5	137,066,324 (GRCm39)	missense	probably damaging	1.00
Z1177:Ap1s1	UTSW	5	137,074,087 (GRCm39)	intron	probably benign

Posted On

2015-04-16