Mutagenetix > Incidental Mutation

Incidental Mutation 'R6085:Synrg'

482438

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 #

R6085 (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 T at 83930487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1276 (E1276D)

Ref Sequence

ENSEMBL: ENSMUSP00000138969 (fasta)

Gene Model

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

AlphaFold

Q5SV85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049714
AA Change: E1253D

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: E1253D

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

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940

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

possibly damaging
Transcript: ENSMUST00000183456
AA Change: E1276D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: E1276D

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

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Boc	G	T	16: 44,308,970 (GRCm39)	D847E	probably damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cdk12	T	C	11: 98,134,255 (GRCm39)	I1051T	unknown	Het
Ciita	A	G	16: 10,330,029 (GRCm39)	E771G	probably benign	Het
Cul2	T	C	18: 3,431,508 (GRCm39)	F638L	probably benign	Het
Ddx21	A	G	10: 62,429,866 (GRCm39)	Y293H	probably damaging	Het
Dhx8	C	T	11: 101,655,139 (GRCm39)	R1050W	probably damaging	Het
Etv1	G	A	12: 38,904,194 (GRCm39)	D285N	probably damaging	Het
Hs3st3a1	G	A	11: 64,327,004 (GRCm39)	V38I	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Lama3	C	T	18: 12,615,156 (GRCm39)	T1360I	probably benign	Het
Mgrn1	A	G	16: 4,738,240 (GRCm39)	T265A	probably benign	Het
Nup155	T	C	15: 8,177,842 (GRCm39)	V1075A	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Pld4	A	G	12: 112,733,320 (GRCm39)	T299A	probably benign	Het
Prr5	T	A	15: 84,572,106 (GRCm39)	I38N	probably damaging	Het
Slc25a47	A	G	12: 108,820,254 (GRCm39)	Y86C	probably benign	Het
Spata31e5	T	C	1: 28,817,308 (GRCm39)	I241M	possibly damaging	Het
Taar7e	T	C	10: 23,913,761 (GRCm39)	F84L	probably benign	Het
Tssk1	G	A	16: 17,712,848 (GRCm39)	C211Y	possibly damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Xpo7	A	T	14: 70,934,051 (GRCm39)	S236T	probably benign	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
R6079:Synrg	UTSW	11	83,915,126 (GRCm39)	missense	probably damaging	1.00
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'- ACAAGTGCTGTGACCAGAG -3'
(R):5'- TGATCACACGTTATGGGGACG -3'

Sequencing Primer
(F):5'- TGCTGAAGTCTAGAAAGGTCTATAG -3'
(R):5'- CACGTTATGGGGACGAGTGAGTC -3'

Posted On

2017-07-14