Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Ap1s1'

490034

Institutional Source

Beutler Lab

Gene Symbol

Ap1s1

Ensembl Gene

ENSMUSG00000004849

Gene Name

adaptor protein complex AP-1, sigma 1

Synonyms

AP19

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R6164 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

137063847-137074962 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 137066240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140815 (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

SMART Domains

Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144303

SMART Domains

Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849

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

Predicted Effect

unknown
Transcript: ENSMUST00000150603
AA Change: E187G

SMART Domains

Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: E187G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	G	7: 79,491,953 (GRCm39)	I16T	possibly damaging	Het
Atp1a2	T	C	1: 172,106,459 (GRCm39)	S848G	probably damaging	Het
Bche	T	A	3: 73,608,389 (GRCm39)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,713,645 (GRCm39)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,919,642 (GRCm39)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,071,331 (GRCm39)	S351P	probably benign	Het
Cfap100	T	C	6: 90,392,768 (GRCm39)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,968,833 (GRCm39)	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,870,584 (GRCm39)		probably null	Het
Cybrd1	T	C	2: 70,948,618 (GRCm39)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm39)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,489 (GRCm39)	I2942L	probably benign	Het
Ehd4	C	T	2: 119,932,689 (GRCm39)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 64,020,158 (GRCm39)		probably benign	Het
Exoc4	T	A	6: 33,309,218 (GRCm39)	M280K	probably damaging	Het
Fmo1	T	G	1: 162,678,979 (GRCm39)	E89A	probably benign	Het
Foxm1	A	G	6: 128,350,898 (GRCm39)	D733G	probably benign	Het
Garin5b	T	C	7: 4,773,677 (GRCm39)	T73A	probably damaging	Het
Gulp1	A	C	1: 44,793,511 (GRCm39)	R57S	probably damaging	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Hdac4	G	T	1: 91,957,876 (GRCm39)	A46E	probably benign	Het
Hspg2	T	C	4: 137,241,966 (GRCm39)	S567P	possibly damaging	Het
Insyn1	C	A	9: 58,406,530 (GRCm39)	P147T	probably damaging	Het
Iqgap1	A	C	7: 80,458,854 (GRCm39)	C21W	unknown	Het
Isoc2a	T	C	7: 4,894,488 (GRCm39)	L57P	probably damaging	Het
Krt34	G	A	11: 99,929,272 (GRCm39)	Q313*	probably null	Het
Krt6a	C	T	15: 101,601,008 (GRCm39)	V263I	probably damaging	Het
Man2a1	A	G	17: 65,040,719 (GRCm39)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,469,675 (GRCm39)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,417,082 (GRCm39)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,618,239 (GRCm39)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,075,754 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,095,507 (GRCm39)	L795P	probably damaging	Het
Nup160	T	A	2: 90,548,220 (GRCm39)	Y984*	probably null	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or2d3	G	T	7: 106,491,135 (GRCm39)	Y60*	probably null	Het
Or5p52	A	G	7: 107,502,595 (GRCm39)	T224A	probably benign	Het
Osmr	A	G	15: 6,889,833 (GRCm39)	V5A	probably benign	Het
Pabir1	T	A	19: 24,454,450 (GRCm39)	M91L	probably benign	Het
Pcsk5	A	G	19: 17,814,317 (GRCm39)		probably null	Het
Pex11a	G	A	7: 79,387,127 (GRCm39)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,442,799 (GRCm39)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm39)		probably benign	Het
Ppp2r2d	T	C	7: 138,474,742 (GRCm39)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,326,191 (GRCm39)	R126H	probably damaging	Het
Primpol	C	T	8: 47,039,477 (GRCm39)	R381H	probably benign	Het
Prl7a1	C	A	13: 27,821,626 (GRCm39)	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,252,799 (GRCm39)	L284P	probably damaging	Het
Rgs21	A	T	1: 144,417,035 (GRCm39)	C6S	probably benign	Het
Rnasel	T	C	1: 153,630,138 (GRCm39)	V218A	probably benign	Het
Sag	G	T	1: 87,752,175 (GRCm39)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,117,824 (GRCm39)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,833,896 (GRCm39)	V679M	probably damaging	Het
Sele	T	A	1: 163,879,386 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,990,117 (GRCm39)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,983,981 (GRCm39)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,863,590 (GRCm39)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,157,647 (GRCm39)	V75D	probably benign	Het
Syne1	C	T	10: 5,011,429 (GRCm39)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,264,007 (GRCm39)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,903,040 (GRCm39)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,008,329 (GRCm39)	R235*	probably null	Het
Wnk4	C	T	11: 101,165,894 (GRCm39)	A807V	possibly damaging	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
IGL02661:Ap1s1	APN	5	137,066,327 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GACAGACGTCTTAGGTCTTGGG -3'
(R):5'- TCCCAGGTATGTGAGTTGGAC -3'

Sequencing Primer
(F):5'- TCTTGGGAAGAGCCTGAGC -3'
(R):5'- CCAGGTATGTGAGTTGGACATCATC -3'

Posted On

2017-10-10