Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Syndig1'

182012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syndig1

Ensembl Gene

ENSMUSG00000074736

Gene Name

synapse differentiation inducing 1

Synonyms

Tmem90b, SynDIG1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

149672703-149846312 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 149845090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105561 (fasta)

Gene Model

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

AlphaFold

A2ANU3

Predicted Effect

probably benign
Transcript: ENSMUST00000109934

SMART Domains

Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109935

SMART Domains

Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Col24a1	T	C	3: 145,229,922 (GRCm39)		probably null	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dcaf12	T	C	4: 41,298,299 (GRCm39)	N283S	probably benign	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Spty2d1	T	A	7: 46,647,358 (GRCm39)	S524C	probably damaging	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tmem176a	T	A	6: 48,819,554 (GRCm39)	V11E	possibly damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	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
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
R6603:Syndig1	UTSW	2	149,845,208 (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

Posted On

2014-05-07