Mutagenetix > Incidental Mutations

Incidental Mutation 'R5165:Synrg'

395662

Institutional Source

Beutler Lab

Gene Symbol

Synrg

Ensembl Gene

ENSMUSG00000034940

Gene Name

synergin, gamma

Synonyms

Ap1gbp1, L71-5

MMRRC Submission

042746-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83964428-84044578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83990935 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 366 (S366P)

Ref Sequence

ENSEMBL: ENSMUSP00000090510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049714] [ENSMUST00000092834] [ENSMUST00000183456] [ENSMUST00000183714]

Predicted Effect

probably benign
Transcript: ENSMUST00000049714
AA Change: S445P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: S445P

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
coiled coil region	113	153	N/A	INTRINSIC
Blast:EH	301	368	8e-6	BLAST
low complexity region	560	569	N/A	INTRINSIC
low complexity region	644	662	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1295	1306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092834
AA Change: S366P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: S366P

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
coiled coil region	112	152	N/A	INTRINSIC
Blast:EH	222	289	5e-6	BLAST
low complexity region	481	490	N/A	INTRINSIC
low complexity region	565	583	N/A	INTRINSIC
internal_repeat_1	617	755	7.57e-6	PROSPERO
internal_repeat_1	746	879	7.57e-6	PROSPERO
low complexity region	880	894	N/A	INTRINSIC
low complexity region	1127	1138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138676

SMART Domains

Protein: ENSMUSP00000117709
Gene: ENSMUSG00000034940

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Blast:EH	134	201	3e-7	BLAST
SCOP:d1fi6a_	147	208	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148901

Predicted Effect

probably benign
Transcript: ENSMUST00000183456
AA Change: S545P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: S545P

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
coiled coil region	112	152	N/A	INTRINSIC
low complexity region	197	209	N/A	INTRINSIC
Blast:EH	401	468	7e-6	BLAST
low complexity region	660	669	N/A	INTRINSIC
low complexity region	744	762	N/A	INTRINSIC
internal_repeat_1	796	934	2.26e-5	PROSPERO
internal_repeat_1	925	1058	2.26e-5	PROSPERO
low complexity region	1059	1073	N/A	INTRINSIC
low complexity region	1318	1329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183714
AA Change: S444P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: S444P

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
coiled coil region	112	152	N/A	INTRINSIC
Blast:EH	300	367	6e-6	BLAST
low complexity region	559	568	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
internal_repeat_1	695	833	1.34e-5	PROSPERO
internal_repeat_1	824	957	1.34e-5	PROSPERO
low complexity region	958	972	N/A	INTRINSIC
low complexity region	1205	1216	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,526,832	I77F	probably benign	Het
Actl6a	G	A	3: 32,720,208	V285I	probably benign	Het
Adam9	A	T	8: 24,967,174	I646N	possibly damaging	Het
Ahnak	T	C	19: 9,015,665	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,241,255	T223A	probably damaging	Het
Apc2	A	G	10: 80,315,850	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,581,789	I795T	probably benign	Het
Cdhr4	T	C	9: 107,997,630	L633P	probably damaging	Het
Cep350	A	G	1: 155,928,368	S990P	probably damaging	Het
Cplx2	A	G	13: 54,378,976	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 94,779,876	S170P	probably benign	Het
Cyth1	T	C	11: 118,169,082	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,939,215		probably null	Het
Dmwd	G	A	7: 19,078,035		probably benign	Het
Dsg1c	A	G	18: 20,277,023	H516R	probably damaging	Het
Efemp2	T	C	19: 5,475,411	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,777,657	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,956,012	V26A	probably damaging	Het
Gkap1	A	G	13: 58,263,196		probably null	Het
Gstcd	A	C	3: 133,084,679	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,984,000	M215K	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kcnj9	A	T	1: 172,323,157	D296E	probably benign	Het
Kctd18	T	C	1: 57,959,236	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,839,624	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,872,461	S692P	probably benign	Het
Lrrc10	A	T	10: 117,046,060	N213I	probably benign	Het
Mettl11b	A	G	1: 163,722,523	I53T	probably benign	Het
Nceh1	G	A	3: 27,241,528	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,153,743	H53Q	probably damaging	Het
Nov	A	G	15: 54,749,189	D198G	probably damaging	Het
Olfr1276	T	A	2: 111,257,223	V36E	possibly damaging	Het
Olfr128	A	G	17: 37,924,361	D265G	probably benign	Het
Olfr1388	A	G	11: 49,444,376	H175R	probably damaging	Het
Olfr1447	A	T	19: 12,901,200	N193K	probably benign	Het
Oxct1	A	T	15: 4,053,769	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,675,670	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,967,925	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,678,272	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,465,912	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,846,822	S229T	possibly damaging	Het
Shank2	T	A	7: 144,409,636	V327D	possibly damaging	Het
Skint6	A	T	4: 112,865,668	V904E	possibly damaging	Het
Slfn8	A	T	11: 83,017,127	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,078	L23Q	unknown	Het
Snx29	T	A	16: 11,420,775	M23K	probably damaging	Het
Tomm40	A	G	7: 19,713,667		probably null	Het
Tpcn1	T	C	5: 120,557,945	E81G	probably damaging	Het
Trappc1	A	G	11: 69,324,234	Q26R	probably benign	Het
Ttn	T	A	2: 76,776,556		probably null	Het
Usp25	T	A	16: 77,076,405	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,958,189	Y132*	probably null	Het

Other mutations in Synrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Synrg	APN	11	84039246	missense	probably damaging	0.98
IGL01640:Synrg	APN	11	83981508	missense	probably damaging	1.00
IGL01936:Synrg	APN	11	84019705	missense	probably benign	0.00
IGL02311:Synrg	APN	11	84019804	missense	probably benign	0.01
IGL02836:Synrg	APN	11	84001978	splice site	probably benign
IGL02868:Synrg	APN	11	83987050	splice site	probably benign
IGL03185:Synrg	APN	11	83981479	missense	probably damaging	1.00
IGL03224:Synrg	APN	11	84039666	missense	possibly damaging	0.86
polaris	UTSW	11	84019914	missense	probably damaging	1.00
P0041:Synrg	UTSW	11	83982311	splice site	probably benign
R0023:Synrg	UTSW	11	84008653	missense	probably damaging	1.00
R0044:Synrg	UTSW	11	84009181	missense	probably damaging	1.00
R0082:Synrg	UTSW	11	83987910	splice site	probably benign
R0227:Synrg	UTSW	11	84009432	missense	probably damaging	1.00
R0361:Synrg	UTSW	11	84024337	splice site	probably null
R0494:Synrg	UTSW	11	84019543	missense	probably benign
R0548:Synrg	UTSW	11	83982188	splice site	probably benign
R0744:Synrg	UTSW	11	84024305	nonsense	probably null
R1114:Synrg	UTSW	11	84023436	splice site	probably benign
R1240:Synrg	UTSW	11	84023356	missense	probably damaging	1.00
R1989:Synrg	UTSW	11	84019955	critical splice donor site	probably null
R2247:Synrg	UTSW	11	84009376	missense	probably damaging	1.00
R2263:Synrg	UTSW	11	83977152	missense	possibly damaging	0.79
R2420:Synrg	UTSW	11	84009224	missense	probably damaging	0.96
R2421:Synrg	UTSW	11	84009224	missense	probably damaging	0.96
R2937:Synrg	UTSW	11	83994354	missense	probably damaging	1.00
R3783:Synrg	UTSW	11	84001920	missense	probably damaging	0.99
R3784:Synrg	UTSW	11	84001920	missense	probably damaging	0.99
R3785:Synrg	UTSW	11	84001920	missense	probably damaging	0.99
R3787:Synrg	UTSW	11	84001920	missense	probably damaging	0.99
R3925:Synrg	UTSW	11	84040899	missense	probably benign	0.03
R3945:Synrg	UTSW	11	84023406	missense	probably damaging	1.00
R3950:Synrg	UTSW	11	83989815	missense	probably damaging	1.00
R5216:Synrg	UTSW	11	83982196	missense	probably damaging	0.99
R5293:Synrg	UTSW	11	83981499	missense	probably damaging	1.00
R5561:Synrg	UTSW	11	84002240	splice site	probably null
R5575:Synrg	UTSW	11	84009552	critical splice donor site	probably null
R6079:Synrg	UTSW	11	84024300	missense	probably damaging	1.00
R6085:Synrg	UTSW	11	84039661	missense	possibly damaging	0.80
R6138:Synrg	UTSW	11	84024300	missense	probably damaging	1.00
R6259:Synrg	UTSW	11	84008658	missense	probably damaging	1.00
R6751:Synrg	UTSW	11	83981425	missense	probably damaging	1.00
R6795:Synrg	UTSW	11	84019914	missense	probably damaging	1.00
R6944:Synrg	UTSW	11	84025086	missense	probably damaging	1.00
R7092:Synrg	UTSW	11	84008857	missense	possibly damaging	0.95
R7109:Synrg	UTSW	11	84039672	missense	possibly damaging	0.82
R7291:Synrg	UTSW	11	84009381	missense	probably damaging	1.00
R7489:Synrg	UTSW	11	83990825	missense	probably benign	0.33
R7794:Synrg	UTSW	11	84019574	missense	probably benign	0.10
R7982:Synrg	UTSW	11	84019818	missense	probably damaging	1.00
R8327:Synrg	UTSW	11	84008905	missense	probably benign	0.26
U15987:Synrg	UTSW	11	84024300	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTTTGAGCCAGTTCCC -3'
(R):5'- CTGGGGTCAAATTTAGGATCCTGAG -3'

Sequencing Primer
(F):5'- TACCTTAAGCGGCTTTCCTATGAC -3'
(R):5'- ATCCTGAGTATCCTAGTGAGAGCTC -3'

Posted On

2016-06-21