Mutagenetix > Incidental Mutations

Incidental Mutation 'R0744:Synrg'

70871

Institutional Source

Beutler Lab

Gene Symbol

Synrg

Ensembl Gene

ENSMUSG00000034940

Gene Name

synergin, gamma

Synonyms

Ap1gbp1, L71-5

MMRRC Submission

038925-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83964428-84044578 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 84024305 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1046 (Q1046*)

Ref Sequence

ENSEMBL: ENSMUSP00000139103 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000049714
AA Change: Q1124*

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: Q1124*

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 null
Transcript: ENSMUST00000092834
AA Change: Q968*

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: Q968*

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 null
Transcript: ENSMUST00000183456
AA Change: Q1147*

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: Q1147*

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 null
Transcript: ENSMUST00000183714
AA Change: Q1046*

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: Q1046*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,642,364		probably null	Het
AI987944	T	C	7: 41,376,859	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,266,641	D479V	probably benign	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dzip3	A	G	16: 48,959,675	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,365,667	N600K	probably damaging	Het
Erich6	T	A	3: 58,636,122		probably benign	Het
Fbn1	T	C	2: 125,314,814		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Galnt17	T	A	5: 131,150,916	D131V	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Gm6619	T	A	6: 131,490,334	L54Q	probably damaging	Het
Herc2	T	C	7: 56,206,036		probably benign	Het
Hic1	T	A	11: 75,165,801	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,651,629	D286V	possibly damaging	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,878,573		probably benign	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mark1	T	A	1: 184,921,608	I166F	probably damaging	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mast4	C	G	13: 102,737,387	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mgst3	A	G	1: 167,373,805	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,132,475	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Muc1	C	A	3: 89,230,328	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,797,505		probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr329-ps	T	A	11: 58,543,162	M105L	possibly damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Pzp	A	G	6: 128,516,195		probably benign	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapgef3	G	A	15: 97,761,585		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,203,318	M29K	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Slc6a13	T	G	6: 121,302,867	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Supt20	T	A	3: 54,714,701	Y409N	probably damaging	Het
Tab2	T	C	10: 7,907,581		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm6	T	C	2: 130,151,761	V640A	probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Tomm34	T	C	2: 164,070,976	N22D	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Trim62	A	G	4: 128,884,215	S16G	probably damaging	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,814,406		probably benign	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,902,272	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	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
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
R5165:Synrg	UTSW	11	83990935	missense	probably benign	0.02
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
U15987:Synrg	UTSW	11	84024300	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACACCTCCACAGGGAGTAACTG -3'
(R):5'- TTCATGCTCTGCCTGGTGATGGAAG -3'

Sequencing Primer
(F):5'- GTAACTGCATAAAAGTTCACACTGC -3'
(R):5'- ATGGAAGTAGGCACGCCTC -3'

Posted On

2013-09-30