Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03224:Synrg'

413725

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 #

IGL03224

Quality Score

Status

Chromosome

Chromosomal Location

83855254-83935404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83930492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1278 (T1278M)

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: T1255M

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: T1255M

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: T1278M

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: T1278M

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	C	3: 88,942,575 (GRCm39)		probably benign	Het
Capn10	T	G	1: 92,867,046 (GRCm39)	V92G	probably damaging	Het
Cntn2	A	G	1: 132,450,780 (GRCm39)	C532R	probably damaging	Het
Csf1r	T	C	18: 61,245,134 (GRCm39)	F233L	probably damaging	Het
Cts6	T	C	13: 61,349,547 (GRCm39)	D82G	probably damaging	Het
Cym	T	C	3: 107,126,048 (GRCm39)	S72G	possibly damaging	Het
Cyp4a29	T	A	4: 115,104,247 (GRCm39)	M105K	probably damaging	Het
Dhx35	T	C	2: 158,699,052 (GRCm39)		probably benign	Het
Dnah5	C	A	15: 28,459,300 (GRCm39)	D4506E	probably damaging	Het
Dok5	T	C	2: 170,674,807 (GRCm39)	F139L	possibly damaging	Het
Dync2h1	T	C	9: 7,076,235 (GRCm39)	D2974G	probably benign	Het
Frem3	C	T	8: 81,340,092 (GRCm39)	T795I	probably damaging	Het
Ints6l	A	G	X: 55,543,287 (GRCm39)	T525A	probably damaging	Het
Lrp1b	T	C	2: 41,361,043 (GRCm39)	T587A	possibly damaging	Het
Meikin	A	G	11: 54,289,286 (GRCm39)	M220V	probably benign	Het
Mmp12	T	A	9: 7,350,002 (GRCm39)		probably benign	Het
Mpp7	T	C	18: 7,403,269 (GRCm39)	D347G	probably benign	Het
Myo3b	A	G	2: 70,180,283 (GRCm39)	Y1190C	probably benign	Het
Myo5c	A	G	9: 75,185,525 (GRCm39)	K963E	probably benign	Het
Nipbl	T	C	15: 8,322,569 (GRCm39)	D2614G	probably damaging	Het
Ppp1r3f	A	G	X: 7,426,821 (GRCm39)	V480A	probably benign	Het
Prkcb	A	T	7: 122,116,147 (GRCm39)	K209*	probably null	Het
Rasgef1a	A	G	6: 118,066,767 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,784,681 (GRCm39)	C233*	probably null	Het
Scn8a	A	G	15: 100,933,520 (GRCm39)	R1534G	probably damaging	Het
Slitrk3	A	T	3: 72,957,263 (GRCm39)	L503H	possibly damaging	Het
Spag17	A	G	3: 99,918,156 (GRCm39)	K380E	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,840 (GRCm39)	V1096A	possibly damaging	Het
Teddm1a	G	T	1: 153,767,763 (GRCm39)	V76F	possibly damaging	Het
Troap	A	G	15: 98,979,758 (GRCm39)	T365A	probably benign	Het
Vps35l	A	G	7: 118,391,776 (GRCm39)		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
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

2016-08-02