Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Dlgap5'

85750

Institutional Source

Beutler Lab

Gene Symbol

Dlgap5

Ensembl Gene

ENSMUSG00000037544

Gene Name

DLG associated protein 5

Synonyms

Dlg7, C86398, Hurp

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47625236-47655864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47637023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 485 (T485M)

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 damaging
Transcript: ENSMUST00000043296
AA Change: T485M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544
AA Change: T485M

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

unknown
Transcript: ENSMUST00000111778
AA Change: T283M

SMART Domains

Protein: ENSMUSP00000107408
Gene: ENSMUSG00000037544
AA Change: T283M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178661
AA Change: T485M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179465

Predicted Effect

probably damaging
Transcript: ENSMUST00000180299
AA Change: T485M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hfm1	A	T	5: 107,026,696 (GRCm39)	F140I	probably damaging	Het
Hyal2	T	A	9: 107,449,445 (GRCm39)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,077,088 (GRCm39)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,616,437 (GRCm39)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Soat2	T	A	15: 102,061,573 (GRCm39)		probably null	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (GRCm39)		probably null	Het

Other mutations in Dlgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Dlgap5	APN	14	47,635,925 (GRCm39)	missense	probably damaging	1.00
IGL01110:Dlgap5	APN	14	47,631,783 (GRCm39)	splice site	probably benign
IGL02943:Dlgap5	APN	14	47,650,433 (GRCm39)	critical splice donor site	probably null
PIT4453001:Dlgap5	UTSW	14	47,638,979 (GRCm39)	frame shift	probably null
R0189:Dlgap5	UTSW	14	47,650,432 (GRCm39)	splice site	probably null
R0383:Dlgap5	UTSW	14	47,647,818 (GRCm39)	missense	probably benign	0.01
R1915:Dlgap5	UTSW	14	47,645,230 (GRCm39)	missense	probably benign	0.00
R1959:Dlgap5	UTSW	14	47,653,843 (GRCm39)	missense	possibly damaging	0.88
R2051:Dlgap5	UTSW	14	47,648,941 (GRCm39)	missense	probably benign	0.01
R2145:Dlgap5	UTSW	14	47,633,380 (GRCm39)	nonsense	probably null
R2922:Dlgap5	UTSW	14	47,627,898 (GRCm39)	critical splice donor site	probably null
R4261:Dlgap5	UTSW	14	47,651,245 (GRCm39)	missense	probably damaging	1.00
R4607:Dlgap5	UTSW	14	47,650,475 (GRCm39)	missense	possibly damaging	0.87
R4724:Dlgap5	UTSW	14	47,638,977 (GRCm39)	critical splice donor site	probably null
R4898:Dlgap5	UTSW	14	47,651,276 (GRCm39)	missense	probably benign	0.01
R5135:Dlgap5	UTSW	14	47,637,122 (GRCm39)	missense	probably damaging	1.00
R5154:Dlgap5	UTSW	14	47,651,177 (GRCm39)	missense	probably damaging	1.00
R5650:Dlgap5	UTSW	14	47,649,196 (GRCm39)	missense	probably benign	0.01
R5849:Dlgap5	UTSW	14	47,626,892 (GRCm39)	missense	possibly damaging	0.95
R5958:Dlgap5	UTSW	14	47,651,211 (GRCm39)	missense	probably damaging	1.00
R6845:Dlgap5	UTSW	14	47,654,020 (GRCm39)	missense	possibly damaging	0.79
R7163:Dlgap5	UTSW	14	47,637,095 (GRCm39)	missense	probably damaging	1.00
R7529:Dlgap5	UTSW	14	47,653,876 (GRCm39)	missense	probably damaging	1.00
R7646:Dlgap5	UTSW	14	47,636,976 (GRCm39)	critical splice donor site	probably null
R8029:Dlgap5	UTSW	14	47,653,897 (GRCm39)	missense	probably benign	0.01
R8084:Dlgap5	UTSW	14	47,645,298 (GRCm39)	missense	probably benign	0.00
R9126:Dlgap5	UTSW	14	47,638,989 (GRCm39)	missense	probably damaging	1.00
R9166:Dlgap5	UTSW	14	47,651,206 (GRCm39)	missense	probably damaging	1.00
Z1177:Dlgap5	UTSW	14	47,625,520 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACACAACTGACTGCTTGCTCTG -3'
(R):5'- TGGCTTGCTATAAAGGCCCGTTTTC -3'

Sequencing Primer
(F):5'- ccctggctgtctgcaag -3'
(R):5'- GCTATAAAGGCCCGTTTTCATTTC -3'

Posted On

2013-11-18