Mutagenetix > Incidental Mutation

Incidental Mutation 'R6079:Synrg'

482862

Institutional Source

Beutler Lab

Gene Symbol

Synrg

Ensembl Gene

ENSMUSG00000034940

Gene Name

synergin, gamma

Synonyms

Ap1gbp1, L71-5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83855254-83935404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83915126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1044 (E1044G)

Ref Sequence

ENSEMBL: ENSMUSP00000139103 (fasta)

Gene Model

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

AlphaFold

Q5SV85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049714
AA Change: E1122G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: E1122G

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 damaging
Transcript: ENSMUST00000092834
AA Change: E966G

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

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: E966G

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

noncoding transcript
Transcript: ENSMUST00000132887

Predicted Effect

probably damaging
Transcript: ENSMUST00000183456
AA Change: E1145G

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

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: E1145G

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 damaging
Transcript: ENSMUST00000183714
AA Change: E1044G

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

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: E1044G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184239

Meta Mutation Damage Score

0.2718

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcc8	T	C	7: 45,755,268 (GRCm39)	M1511V	probably benign	Het
Adamts2	T	A	11: 50,647,533 (GRCm39)	I302N	probably damaging	Het
Adgra2	G	A	8: 27,604,457 (GRCm39)	A511T	probably damaging	Het
Anxa10	C	A	8: 62,530,960 (GRCm39)	M83I	probably benign	Het
Atp2b4	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	1: 133,629,440 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,576 (GRCm39)	F485S	probably damaging	Het
Edc4	C	T	8: 106,614,180 (GRCm39)	R19C	probably benign	Het
Fam90a1b	T	C	X: 93,400,191 (GRCm39)	N213S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Itgae	A	G	11: 73,006,400 (GRCm39)	E356G	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc19	A	T	4: 94,531,580 (GRCm39)	F11I	probably benign	Het
Msl1	G	T	11: 98,689,519 (GRCm39)	G9C	probably benign	Het
Muc4	T	A	16: 32,575,621 (GRCm39)		probably benign	Het
Myo7a	C	T	7: 97,714,997 (GRCm39)	W1558*	probably null	Het
Or5p81	T	A	7: 108,267,412 (GRCm39)	V263E	probably damaging	Het
Pgk1	C	A	X: 105,238,098 (GRCm39)	L85I	possibly damaging	Het
Ppp4r1	G	A	17: 66,121,343 (GRCm39)	V268I	possibly damaging	Het
Rad23b	C	T	4: 55,370,400 (GRCm39)	A142V	probably damaging	Het
Satl1	T	C	X: 111,315,613 (GRCm39)	T281A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Syt12	T	C	19: 4,506,896 (GRCm39)	D83G	probably benign	Het
Taf4b	T	C	18: 14,955,255 (GRCm39)	C603R	possibly damaging	Het
Tbx5	T	C	5: 120,021,211 (GRCm39)	S406P	probably benign	Het
Tfe3	T	C	X: 7,637,288 (GRCm39)	L231P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het

Other mutations in Synrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Synrg	APN	11	83,930,072 (GRCm39)	missense	probably damaging	0.98
IGL01640:Synrg	APN	11	83,872,334 (GRCm39)	missense	probably damaging	1.00
IGL01936:Synrg	APN	11	83,910,531 (GRCm39)	missense	probably benign	0.00
IGL02311:Synrg	APN	11	83,910,630 (GRCm39)	missense	probably benign	0.01
IGL02836:Synrg	APN	11	83,892,804 (GRCm39)	splice site	probably benign
IGL02868:Synrg	APN	11	83,877,876 (GRCm39)	splice site	probably benign
IGL03185:Synrg	APN	11	83,872,305 (GRCm39)	missense	probably damaging	1.00
IGL03224:Synrg	APN	11	83,930,492 (GRCm39)	missense	possibly damaging	0.86
Polaris	UTSW	11	83,910,740 (GRCm39)	missense	probably damaging	1.00
P0041:Synrg	UTSW	11	83,873,137 (GRCm39)	splice site	probably benign
R0023:Synrg	UTSW	11	83,899,479 (GRCm39)	missense	probably damaging	1.00
R0044:Synrg	UTSW	11	83,900,007 (GRCm39)	missense	probably damaging	1.00
R0082:Synrg	UTSW	11	83,878,736 (GRCm39)	splice site	probably benign
R0227:Synrg	UTSW	11	83,900,258 (GRCm39)	missense	probably damaging	1.00
R0361:Synrg	UTSW	11	83,915,163 (GRCm39)	splice site	probably null
R0494:Synrg	UTSW	11	83,910,369 (GRCm39)	missense	probably benign
R0548:Synrg	UTSW	11	83,873,014 (GRCm39)	splice site	probably benign
R0744:Synrg	UTSW	11	83,915,131 (GRCm39)	nonsense	probably null
R1114:Synrg	UTSW	11	83,914,262 (GRCm39)	splice site	probably benign
R1240:Synrg	UTSW	11	83,914,182 (GRCm39)	missense	probably damaging	1.00
R1989:Synrg	UTSW	11	83,910,781 (GRCm39)	critical splice donor site	probably null
R2247:Synrg	UTSW	11	83,900,202 (GRCm39)	missense	probably damaging	1.00
R2263:Synrg	UTSW	11	83,867,978 (GRCm39)	missense	possibly damaging	0.79
R2420:Synrg	UTSW	11	83,900,050 (GRCm39)	missense	probably damaging	0.96
R2421:Synrg	UTSW	11	83,900,050 (GRCm39)	missense	probably damaging	0.96
R2937:Synrg	UTSW	11	83,885,180 (GRCm39)	missense	probably damaging	1.00
R3783:Synrg	UTSW	11	83,892,746 (GRCm39)	missense	probably damaging	0.99
R3784:Synrg	UTSW	11	83,892,746 (GRCm39)	missense	probably damaging	0.99
R3785:Synrg	UTSW	11	83,892,746 (GRCm39)	missense	probably damaging	0.99
R3787:Synrg	UTSW	11	83,892,746 (GRCm39)	missense	probably damaging	0.99
R3925:Synrg	UTSW	11	83,931,725 (GRCm39)	missense	probably benign	0.03
R3945:Synrg	UTSW	11	83,914,232 (GRCm39)	missense	probably damaging	1.00
R3950:Synrg	UTSW	11	83,880,641 (GRCm39)	missense	probably damaging	1.00
R5165:Synrg	UTSW	11	83,881,761 (GRCm39)	missense	probably benign	0.02
R5216:Synrg	UTSW	11	83,873,022 (GRCm39)	missense	probably damaging	0.99
R5293:Synrg	UTSW	11	83,872,325 (GRCm39)	missense	probably damaging	1.00
R5561:Synrg	UTSW	11	83,893,066 (GRCm39)	splice site	probably null
R5575:Synrg	UTSW	11	83,900,378 (GRCm39)	critical splice donor site	probably null
R6085:Synrg	UTSW	11	83,930,487 (GRCm39)	missense	possibly damaging	0.80
R6138:Synrg	UTSW	11	83,915,126 (GRCm39)	missense	probably damaging	1.00
R6259:Synrg	UTSW	11	83,899,484 (GRCm39)	missense	probably damaging	1.00
R6751:Synrg	UTSW	11	83,872,251 (GRCm39)	missense	probably damaging	1.00
R6795:Synrg	UTSW	11	83,910,740 (GRCm39)	missense	probably damaging	1.00
R6944:Synrg	UTSW	11	83,915,912 (GRCm39)	missense	probably damaging	1.00
R7092:Synrg	UTSW	11	83,899,683 (GRCm39)	missense	possibly damaging	0.95
R7109:Synrg	UTSW	11	83,930,498 (GRCm39)	missense	possibly damaging	0.82
R7291:Synrg	UTSW	11	83,900,207 (GRCm39)	missense	probably damaging	1.00
R7489:Synrg	UTSW	11	83,881,651 (GRCm39)	missense	probably benign	0.33
R7794:Synrg	UTSW	11	83,910,400 (GRCm39)	missense	probably benign	0.10
R7982:Synrg	UTSW	11	83,910,644 (GRCm39)	missense	probably damaging	1.00
R8327:Synrg	UTSW	11	83,899,731 (GRCm39)	missense	probably benign	0.26
R8811:Synrg	UTSW	11	83,910,410 (GRCm39)	missense	probably benign	0.16
R8926:Synrg	UTSW	11	83,881,567 (GRCm39)	missense	possibly damaging	0.89
R9109:Synrg	UTSW	11	83,900,278 (GRCm39)	missense	probably damaging	1.00
R9112:Synrg	UTSW	11	83,862,409 (GRCm39)	missense	probably damaging	1.00
R9298:Synrg	UTSW	11	83,900,278 (GRCm39)	missense	probably damaging	1.00
R9494:Synrg	UTSW	11	83,881,747 (GRCm39)	missense	probably benign	0.11
R9535:Synrg	UTSW	11	83,881,660 (GRCm39)	missense	probably benign	0.06
R9584:Synrg	UTSW	11	83,900,200 (GRCm39)	missense	probably damaging	1.00
R9644:Synrg	UTSW	11	83,910,696 (GRCm39)	missense	probably damaging	1.00
R9728:Synrg	UTSW	11	83,915,117 (GRCm39)	missense	probably damaging	1.00
R9788:Synrg	UTSW	11	83,877,781 (GRCm39)	missense	probably benign	0.02
U15987:Synrg	UTSW	11	83,915,126 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACTGGAACAAACGAGGC -3'
(R):5'- GCTGACAAATGAGCCAGTGTC -3'

Sequencing Primer
(F):5'- GAGGCAACATTTACACAGAAATGTTG -3'
(R):5'- TTGAACCTGTGTCCTCCAGAAGAG -3'

Posted On

2017-07-14