Mutagenetix > Incidental Mutation

Incidental Mutation 'R6795:Synrg'

532984

Institutional Source

Beutler Lab

Gene Symbol

Synrg

Ensembl Gene

ENSMUSG00000034940

Gene Name

synergin, gamma

Synonyms

Ap1gbp1, L71-5

MMRRC Submission

044908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83855254-83935404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83910740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1047 (I1047V)

Ref Sequence

ENSEMBL: ENSMUSP00000059000 (fasta)

Gene Model

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

AlphaFold

Q5SV85

Predicted Effect

probably damaging
Transcript: ENSMUST00000049714
AA Change: I1047V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940
AA Change: I1047V

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: I891V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940
AA Change: I891V

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 damaging
Transcript: ENSMUST00000183456
AA Change: I1070V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138969
Gene: ENSMUSG00000034940
AA Change: I1070V

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: I969V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139103
Gene: ENSMUSG00000034940
AA Change: I969V

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

Meta Mutation Damage Score

0.0994

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	A	4: 73,869,065 (GRCm39)		probably benign	Het
A2m	T	A	6: 121,625,281 (GRCm39)		probably null	Het
Aadacl2fm3	A	T	3: 59,776,357 (GRCm39)	Y176F	probably damaging	Het
Agps	A	G	2: 75,724,402 (GRCm39)	D472G	probably damaging	Het
Amfr	A	G	8: 94,726,961 (GRCm39)	V158A	probably benign	Het
Birc2	A	G	9: 7,833,873 (GRCm39)	Y203H	possibly damaging	Het
Calr4	A	G	4: 109,101,985 (GRCm39)	N147D	probably damaging	Het
Cd8b1	T	A	6: 71,303,324 (GRCm39)	L133Q	probably damaging	Het
Cenpn	T	A	8: 117,652,887 (GRCm39)	S19R	probably benign	Het
Ces2g	A	G	8: 105,694,449 (GRCm39)	N494S	probably damaging	Het
Ces3a	G	A	8: 105,777,228 (GRCm39)	G184R	possibly damaging	Het
Dlgap1	C	A	17: 71,125,069 (GRCm39)	A614E	possibly damaging	Het
Dpy19l1	C	A	9: 24,414,158 (GRCm39)	R90L	possibly damaging	Het
Ephb2	A	C	4: 136,400,646 (GRCm39)	L544R	possibly damaging	Het
Fanca	T	A	8: 124,045,232 (GRCm39)	T21S	probably benign	Het
Fsip2	A	T	2: 82,811,303 (GRCm39)	M2541L	probably benign	Het
Galnt2	T	C	8: 125,070,175 (GRCm39)	F530S	probably damaging	Het
Gm19410	G	A	8: 36,262,676 (GRCm39)	C871Y	probably damaging	Het
Gmds	C	T	13: 32,418,335 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,841,270 (GRCm39)	V620A	possibly damaging	Het
Myo18b	T	C	5: 112,994,230 (GRCm39)	T908A	probably damaging	Het
Or5d18	C	T	2: 87,864,668 (GRCm39)	V272I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcf11	A	C	7: 92,306,786 (GRCm39)	N1127K	probably benign	Het
Plec	T	C	15: 76,064,338 (GRCm39)	K1979E	probably damaging	Het
Prpf38b	T	C	3: 108,811,980 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,478,941 (GRCm39)	C588*	probably null	Het
Skint5	C	T	4: 113,524,420 (GRCm39)	E854K	unknown	Het
Slc25a42	A	G	8: 70,641,040 (GRCm39)	Y187H	probably damaging	Het
Slc30a5	A	T	13: 100,953,577 (GRCm39)	D182E	probably damaging	Het
Tbc1d31	A	G	15: 57,815,102 (GRCm39)	D593G	probably damaging	Het
Thnsl1	C	T	2: 21,218,303 (GRCm39)	Q165*	probably null	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttf2	G	A	3: 100,866,578 (GRCm39)	A518V	probably damaging	Het
Vmn1r6	A	G	6: 56,979,422 (GRCm39)	Y28C	possibly damaging	Het
Zzef1	A	G	11: 72,741,485 (GRCm39)	E709G	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
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
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'- AGGATTTCACCAGGCAGGAC -3'
(R):5'- CCTGCTAAGCAAAGAATCATTACTG -3'

Sequencing Primer
(F):5'- ACATGCCCACGGTGGAC -3'
(R):5'- TTTTTGAATAATGCCTCATTATGTGG -3'

Posted On

2018-08-29