Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Dlgap5'

23138

Institutional Source

Beutler Lab

Gene Symbol

Dlgap5

Ensembl Gene

ENSMUSG00000037544

Gene Name

DLG associated protein 5

Synonyms

Dlg7, C86398, Hurp

MMRRC Submission

038450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R0189 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47387779-47418407 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 47412975 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 null
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: ENSMUST00000178661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179392

Predicted Effect

probably null
Transcript: ENSMUST00000180299

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,096,947	V207A	possibly damaging	Het
Abca9	A	T	11: 110,108,653	W1459R	probably damaging	Het
Abca9	A	T	11: 110,141,662		probably benign	Het
Adam25	T	A	8: 40,755,430	C578S	probably damaging	Het
Adam32	T	A	8: 24,922,337		probably null	Het
Add1	T	C	5: 34,616,648	V67A	probably benign	Het
Aggf1	A	T	13: 95,356,480		probably benign	Het
Ahcyl2	A	T	6: 29,891,243	I449F	probably benign	Het
Ak6	A	G	13: 100,655,142	Y31C	probably damaging	Het
Akap6	T	C	12: 53,141,254	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,928,850	P964T	probably damaging	Het
Atxn7l3b	A	T	10: 112,928,580	L48Q	possibly damaging	Het
Bbs10	T	G	10: 111,301,065	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,705,764	T164I	probably damaging	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Ccdc110	T	A	8: 45,935,082	D25E	probably damaging	Het
Ccdc83	T	A	7: 90,226,683	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,153,251	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,652,446	D313G	probably damaging	Het
Dusp3	A	T	11: 101,981,721	I83N	probably damaging	Het
Eea1	A	T	10: 95,995,582	K178N	possibly damaging	Het
Efr3b	T	A	12: 3,982,925	D144V	probably damaging	Het
Gm1110	T	A	9: 26,883,218	E504V	probably null	Het
Got2	T	C	8: 95,888,253	H18R	probably benign	Het
Gprc5b	T	C	7: 118,983,633	M338V	probably benign	Het
Has2	A	T	15: 56,668,435	F295I	probably damaging	Het
Hcn3	T	C	3: 89,148,800	D519G	probably damaging	Het
Ino80	T	A	2: 119,379,679	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,413,562		probably benign	Het
Kif3c	T	A	12: 3,365,989	S3R	probably benign	Het
Krt17	A	G	11: 100,260,619	I116T	possibly damaging	Het
Lrba	T	C	3: 86,368,509	V1728A	probably damaging	Het
Map3k6	G	T	4: 133,246,941	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,788,471	V803A	probably damaging	Het
Med13	A	G	11: 86,319,876	V480A	probably benign	Het
Msh5	T	C	17: 35,029,654	E772G	probably null	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,304,740	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,724,235	T34A	probably benign	Het
Nipal3	A	T	4: 135,468,518	I258N	possibly damaging	Het
Nup54	A	G	5: 92,422,564	V328A	probably damaging	Het
Olfr1410	T	C	1: 92,607,893	F19L	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr615	G	T	7: 103,561,082	V202F	probably benign	Het
Olfr763	T	A	10: 129,011,322	F12L	possibly damaging	Het
Olfr923	T	A	9: 38,827,815	Y41*	probably null	Het
Oprm1	T	C	10: 6,789,071	V66A	possibly damaging	Het
Peg12	G	A	7: 62,463,548	T267I	unknown	Het
Phf20	A	G	2: 156,303,141	S890G	probably benign	Het
Plk2	C	T	13: 110,399,463	T567M	probably damaging	Het
Pola2	A	T	19: 5,942,342		probably benign	Het
Ppp1r12b	A	G	1: 134,865,776		probably null	Het
Prickle1	A	T	15: 93,503,019	L528*	probably null	Het
Prpf6	T	A	2: 181,655,457	N903K	probably benign	Het
Ptprc	G	A	1: 138,082,715	A601V	probably benign	Het
Ranbp1	A	T	16: 18,241,743		probably null	Het
Rapgef6	C	T	11: 54,691,249	S1334L	probably benign	Het
Rgs2	T	C	1: 144,002,284		probably null	Het
Ripk2	A	T	4: 16,129,125		probably null	Het
Rnf17	A	G	14: 56,482,193	S967G	probably null	Het
Rock2	T	A	12: 16,959,516		probably benign	Het
Rpusd3	C	T	6: 113,415,553		probably null	Het
Scgb1b20	G	T	7: 33,373,510	V48L	probably benign	Het
Sec16a	T	A	2: 26,424,414		probably null	Het
Serpina5	T	A	12: 104,103,330	L267H	probably damaging	Het
Slc12a3	C	T	8: 94,356,358	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,581,914	S745P	probably benign	Het
Sucla2	T	C	14: 73,592,648	V375A	probably damaging	Het
Sun2	C	A	15: 79,737,076	V213F	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424	R129C	probably damaging	Het
Taf6	T	C	5: 138,182,713	E202G	probably benign	Het
Tex21	T	A	12: 76,239,533	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620	S503G	probably benign	Het
Tmem184c	C	T	8: 77,597,812	V350I	possibly damaging	Het
Tnks1bp1	A	G	2: 85,070,929	S960G	possibly damaging	Het
Trbc2	T	C	6: 41,548,149		probably benign	Het
Tsta3	C	A	15: 75,926,978	D127Y	probably damaging	Het
Tubgcp2	A	T	7: 140,001,605		probably benign	Het
Vmn1r39	T	A	6: 66,805,197	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,610,700	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,725,264	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,382,239	H181L	possibly damaging	Het

Other mutations in Dlgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Dlgap5	APN	14	47398468	missense	probably damaging	1.00
IGL01110:Dlgap5	APN	14	47394326	splice site	probably benign
IGL02943:Dlgap5	APN	14	47412976	critical splice donor site	probably null
PIT4453001:Dlgap5	UTSW	14	47401522	frame shift	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

Predicted Primers

PCR Primer
(F):5'- CAACTGCTCTAAGCCATCCCTAATCTTC -3'
(R):5'- GCTGAGCCAGAAAAGGTCCGT -3'

Sequencing Primer
(F):5'- AAGCCATCCCTAATCTTCCTTCATAC -3'
(R):5'- agcaagccaataaagaacatcc -3'

Posted On

2013-04-16