Mutagenetix > Incidental Mutation

Incidental Mutation 'R2964:Ap1s1'

255967

Institutional Source

Beutler Lab

Gene Symbol

Ap1s1

Ensembl Gene

ENSMUSG00000004849

Gene Name

adaptor protein complex AP-1, sigma 1

Synonyms

AP19

MMRRC Submission

040520-MU

Accession Numbers

Essential gene?

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

Stock #

R2964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137063847-137074962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137066357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 148 (D148G)

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 damaging
Transcript: ENSMUST00000111080
AA Change: D115G

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

SMART Domains

Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: D115G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144303
AA Change: D115G

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

SMART Domains

Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: D115G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150603
AA Change: D148G

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

SMART Domains

Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: D148G

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

0.9219

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Acox3	T	C	5: 35,762,611 (GRCm39)	I495T	possibly damaging	Het
Acsl3	A	G	1: 78,672,011 (GRCm39)	S302G	probably benign	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Cdkal1	A	G	13: 29,628,018 (GRCm39)	S39P	unknown	Het
Chrna2	T	C	14: 66,386,817 (GRCm39)	V321A	possibly damaging	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Cwh43	T	C	5: 73,565,679 (GRCm39)		probably benign	Het
Dbi	C	T	1: 120,047,846 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,607,460 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gsdma2	T	C	11: 98,548,085 (GRCm39)	S184P	probably damaging	Het
Gtf2ird1	T	C	5: 134,386,538 (GRCm39)		probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Hrh4	T	C	18: 13,155,426 (GRCm39)	C322R	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Kif3a	A	T	11: 53,469,757 (GRCm39)	I123F	probably damaging	Het
Lrp6	T	C	6: 134,444,489 (GRCm39)	E1127G	probably damaging	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mdc1	A	T	17: 36,164,529 (GRCm39)	Q1359L	possibly damaging	Het
Mdga1	A	T	17: 30,071,442 (GRCm39)	I393N	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Myo3a	T	C	2: 22,345,067 (GRCm39)	V509A	possibly damaging	Het
Nav2	C	T	7: 49,206,780 (GRCm39)	T1535I	probably damaging	Het
Nlrp4d	G	T	7: 10,112,256 (GRCm39)	S626*	probably null	Het
Nup188	T	A	2: 30,215,358 (GRCm39)	I732K	probably damaging	Het
Oprm1	T	C	10: 6,738,914 (GRCm39)	S14P	probably damaging	Het
Or1j12	T	C	2: 36,342,779 (GRCm39)	F61L	probably damaging	Het
Or1l8	G	A	2: 36,817,419 (GRCm39)	R236C	probably benign	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pigr	G	A	1: 130,769,272 (GRCm39)	V28M	probably damaging	Het
Pnpla2	C	T	7: 141,038,391 (GRCm39)	L215F	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rasal1	T	A	5: 120,809,685 (GRCm39)	L530Q	probably damaging	Het
Sdccag8	A	T	1: 176,775,937 (GRCm39)	K616M	possibly damaging	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Trav7d-4	C	T	14: 53,007,584 (GRCm39)	Q26*	probably null	Het
Zcchc8	A	G	5: 123,858,930 (GRCm39)	S22P	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTTAGACAGCAGGGCGTG -3'
(R):5'- ACTCACGACGGAACTCACTG -3'

Sequencing Primer
(F):5'- CGTGATGGGGGCCAGAC -3'
(R):5'- ATCGGTTCAAGGACAGCTTC -3'

Posted On

2014-12-29