Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01110:Dlgap5'

52689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlgap5

Ensembl Gene

ENSMUSG00000037544

Gene Name

DLG associated protein 5

Synonyms

Dlg7, C86398, Hurp

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

IGL01110

Quality Score

Status

Chromosome

Chromosomal Location

47387779-47418407 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 47394326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000178661] [ENSMUST00000180299]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043296

SMART Domains

Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544

Domain	Start	End	E-Value	Type
coiled coil region	86	116	N/A	INTRINSIC
Pfam:GKAP	327	590	2.2e-38	PFAM
low complexity region	735	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111778

SMART Domains

Protein: ENSMUSP00000107408
Gene: ENSMUSG00000037544

Domain	Start	End	E-Value	Type
Pfam:GKAP	78	303	3.9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177822

Predicted Effect

probably benign
Transcript: ENSMUST00000178661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179465

Predicted Effect

probably benign
Transcript: ENSMUST00000180299

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display female infertility resulting from a defect in decidualization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs1	G	A	19: 4,892,925	S479L	possibly damaging	Het
Capn6	G	T	X: 143,807,250	P385H	probably damaging	Het
Cavin1	C	A	11: 100,970,474		probably benign	Het
Cdh9	A	G	15: 16,855,926	D684G	possibly damaging	Het
Doc2g	A	G	19: 4,006,577	E321G	probably damaging	Het
Eef1akmt1	A	C	14: 57,549,790	F210V	probably damaging	Het
Eya1	A	G	1: 14,283,130	S65P	probably damaging	Het
Gpx8	C	T	13: 113,045,684	V72I	probably benign	Het
Gria1	A	G	11: 57,289,381	E650G	probably damaging	Het
Hic1	A	T	11: 75,165,519	L848Q	possibly damaging	Het
Mmp1b	C	T	9: 7,384,921	D243N	probably benign	Het
Mov10l1	G	T	15: 89,021,257	V872L	probably benign	Het
Olfr1099	C	T	2: 86,958,921	C179Y	possibly damaging	Het
Olfr150	T	C	9: 39,737,397	V194A	probably benign	Het
Otof	A	G	5: 30,461,725	F25S	probably damaging	Het
Patj	A	C	4: 98,413,024	N182T	probably damaging	Het
Pik3r6	G	A	11: 68,528,826		probably null	Het
Ppil6	G	A	10: 41,498,410	V96I	probably benign	Het
Sardh	T	A	2: 27,215,113	Q666L	probably benign	Het
Tasp1	A	G	2: 139,977,618	S222P	probably damaging	Het
Tln2	G	T	9: 67,250,582	C1158*	probably null	Het
Zfp707	T	A	15: 75,975,195	C292S	probably damaging	Het
Zfp956	A	G	6: 47,963,412	E235G	probably benign	Het

Other mutations in Dlgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Dlgap5	APN	14	47398468	missense	probably damaging	1.00
IGL02943:Dlgap5	APN	14	47412976	critical splice donor site	probably null
PIT4453001:Dlgap5	UTSW	14	47401522	frame shift	probably null
R0189:Dlgap5	UTSW	14	47412975	splice site	probably null
R0383:Dlgap5	UTSW	14	47410361	missense	probably benign	0.01
R1078:Dlgap5	UTSW	14	47399566	missense	probably damaging	1.00
R1915:Dlgap5	UTSW	14	47407773	missense	probably benign	0.00
R1959:Dlgap5	UTSW	14	47416386	missense	possibly damaging	0.88
R2051:Dlgap5	UTSW	14	47411484	missense	probably benign	0.01
R2145:Dlgap5	UTSW	14	47395923	nonsense	probably null
R2922:Dlgap5	UTSW	14	47390441	critical splice donor site	probably null
R4261:Dlgap5	UTSW	14	47413788	missense	probably damaging	1.00
R4607:Dlgap5	UTSW	14	47413018	missense	possibly damaging	0.87
R4724:Dlgap5	UTSW	14	47401520	critical splice donor site	probably null
R4898:Dlgap5	UTSW	14	47413819	missense	probably benign	0.01
R5135:Dlgap5	UTSW	14	47399665	missense	probably damaging	1.00
R5154:Dlgap5	UTSW	14	47413720	missense	probably damaging	1.00
R5650:Dlgap5	UTSW	14	47411739	missense	probably benign	0.01
R5849:Dlgap5	UTSW	14	47389435	missense	possibly damaging	0.95
R5958:Dlgap5	UTSW	14	47413754	missense	probably damaging	1.00
R6845:Dlgap5	UTSW	14	47416563	missense	possibly damaging	0.79
R7163:Dlgap5	UTSW	14	47399638	missense	probably damaging	1.00
R7529:Dlgap5	UTSW	14	47416419	missense	probably damaging	1.00
R7646:Dlgap5	UTSW	14	47399519	critical splice donor site	probably null
R8029:Dlgap5	UTSW	14	47416440	missense	probably benign	0.01
R8084:Dlgap5	UTSW	14	47407841	missense	probably benign	0.00
R9126:Dlgap5	UTSW	14	47401532	missense	probably damaging	1.00
R9166:Dlgap5	UTSW	14	47413749	missense	probably damaging	1.00
Z1177:Dlgap5	UTSW	14	47388063	nonsense	probably null

Posted On

2013-06-21