Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Syndig1'

525414

Institutional Source

Beutler Lab

Gene Symbol

Syndig1

Ensembl Gene

ENSMUSG00000074736

Gene Name

synapse differentiation inducing 1

Synonyms

Tmem90b, SynDIG1

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149672703-149846312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149845208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 244 (V244M)

Ref Sequence

ENSEMBL: ENSMUSP00000105561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109934] [ENSMUST00000109935]

AlphaFold

A2ANU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109934
AA Change: V244M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736
AA Change: V244M

Domain	Start	End	E-Value	Type
Pfam:Dispanin	164	246	5.8e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109935
AA Change: V244M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736
AA Change: V244M

Domain	Start	End	E-Value	Type
low complexity region	151	171	N/A	INTRINSIC
Pfam:CD225	172	244	7.9e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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 belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lonrf1	T	A	8: 36,690,095 (GRCm39)	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prmt8	A	T	6: 127,706,376 (GRCm39)	F138L	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tasor	A	G	14: 27,168,343 (GRCm39)	Y295C	probably damaging	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Ttc34	T	A	4: 154,923,762 (GRCm39)	I157K	probably benign	Het
Txndc16	A	G	14: 45,389,224 (GRCm39)	F492S	probably damaging	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	probably damaging	Het

Other mutations in Syndig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Syndig1	APN	2	149,741,677 (GRCm39)	missense	probably damaging	1.00
IGL01599:Syndig1	APN	2	149,845,203 (GRCm39)	missense	probably damaging	1.00
IGL01814:Syndig1	APN	2	149,741,690 (GRCm39)	missense	probably damaging	1.00
IGL01988:Syndig1	APN	2	149,845,090 (GRCm39)	splice site	probably benign
IGL02323:Syndig1	APN	2	149,741,707 (GRCm39)	missense	probably benign	0.00
R1445:Syndig1	UTSW	2	149,772,841 (GRCm39)	missense	probably damaging	1.00
R1523:Syndig1	UTSW	2	149,845,154 (GRCm39)	missense	probably damaging	1.00
R4825:Syndig1	UTSW	2	149,741,473 (GRCm39)	missense	probably damaging	0.99
R4892:Syndig1	UTSW	2	149,741,811 (GRCm39)	missense	probably damaging	1.00
R5643:Syndig1	UTSW	2	149,741,428 (GRCm39)	missense	possibly damaging	0.78
R5644:Syndig1	UTSW	2	149,741,428 (GRCm39)	missense	possibly damaging	0.78
R6386:Syndig1	UTSW	2	149,741,496 (GRCm39)	missense	probably damaging	1.00
R7941:Syndig1	UTSW	2	149,741,708 (GRCm39)	missense	probably benign	0.37
R8177:Syndig1	UTSW	2	149,741,788 (GRCm39)	missense	probably damaging	1.00
R9265:Syndig1	UTSW	2	149,845,160 (GRCm39)	missense	probably damaging	0.98
R9340:Syndig1	UTSW	2	149,845,175 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAACCTGTCTGTAATCCAG -3'
(R):5'- AGAAGATTCCAGGGCATCATGG -3'

Sequencing Primer
(F):5'- GGAACCTGTCTGTAATCCAGTAAAG -3'
(R):5'- CATCATGGAGTTGTTTGGCAATCAC -3'

Posted On

2018-06-22