Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02311:Synrg'

287819

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02311

Quality Score

Status

Chromosome

Chromosomal Location

83855254-83935404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83910630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 854 (K854R)

Ref Sequence

ENSEMBL: ENSMUSP00000090510 (fasta)

Gene Model

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

AlphaFold

Q5SV85

Predicted Effect

probably benign
Transcript: ENSMUST00000049714
AA Change: K1010R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: K1010R

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: K854R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: K854R

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: ENSMUST00000183456
AA Change: K1033R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: K1033R

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: K932R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: K932R

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	A	5: 25,202,705 (GRCm39)		probably benign	Het
Adam21	T	G	12: 81,607,666 (GRCm39)	D32A	probably benign	Het
Asns	A	G	6: 7,676,233 (GRCm39)		probably null	Het
Bin3	A	T	14: 70,361,666 (GRCm39)	M45L	probably benign	Het
Cfap44	A	T	16: 44,225,134 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,227,163 (GRCm39)	T2642A	probably benign	Het
Dbndd2	T	C	2: 164,330,622 (GRCm39)	S92P	possibly damaging	Het
Dclre1b	A	C	3: 103,715,409 (GRCm39)	F30V	probably damaging	Het
Dock6	T	C	9: 21,755,624 (GRCm39)	D200G	probably damaging	Het
Epb41l4b	C	A	4: 57,076,456 (GRCm39)	R335L	probably damaging	Het
Fscn1	T	C	5: 142,957,765 (GRCm39)	V304A	probably benign	Het
Gm7008	G	A	12: 40,273,385 (GRCm39)		probably benign	Het
Gm8237	A	G	14: 5,864,425 (GRCm38)		probably null	Het
Ifih1	T	C	2: 62,440,847 (GRCm39)	T440A	probably damaging	Het
Mepe	C	T	5: 104,485,571 (GRCm39)	S237F	probably damaging	Het
Nr4a2	T	C	2: 57,001,743 (GRCm39)	I174V	probably benign	Het
Or2ag2	A	G	7: 106,485,101 (GRCm39)	Y308H	probably benign	Het
Or8c11	C	T	9: 38,289,194 (GRCm39)	Q6*	probably null	Het
Orc1	G	T	4: 108,457,171 (GRCm39)	V404L	probably benign	Het
Pcsk5	G	T	19: 17,410,784 (GRCm39)	Y1869*	probably null	Het
Phf21b	A	G	15: 84,678,095 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,484,246 (GRCm39)	T631A	probably benign	Het
Plxnb1	A	G	9: 108,930,190 (GRCm39)	N349D	probably benign	Het
Scaf11	T	C	15: 96,316,637 (GRCm39)	S976G	probably benign	Het
Scn8a	G	T	15: 100,911,164 (GRCm39)	M861I	probably damaging	Het
Stau1	T	C	2: 166,792,239 (GRCm39)	N433S	probably damaging	Het
Tbata	T	A	10: 61,015,234 (GRCm39)	C150*	probably null	Het
Tcn2	G	A	11: 3,867,692 (GRCm39)	P417S	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tpr	G	T	1: 150,274,404 (GRCm39)	D104Y	probably damaging	Het
Ubash3b	T	C	9: 40,958,333 (GRCm39)	T16A	probably benign	Het
Uso1	T	A	5: 92,335,635 (GRCm39)	S548T	probably benign	Het
Vps13b	T	A	15: 35,709,660 (GRCm39)	V1869E	probably benign	Het
Vps18	T	C	2: 119,120,732 (GRCm39)	C64R	probably benign	Het
Zic2	C	A	14: 122,713,606 (GRCm39)	N173K	probably 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
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
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

Posted On

2015-04-16