Mutagenetix > Incidental Mutation

Incidental Mutation 'R5650:Dlgap5'

441389

Institutional Source

Beutler Lab

Gene Symbol

Dlgap5

Ensembl Gene

ENSMUSG00000037544

Gene Name

DLG associated protein 5

Synonyms

Dlg7, C86398, Hurp

MMRRC Submission

043296-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47625236-47655864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47649196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 166 (G166D)

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
AA Change: G166D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544
AA Change: G166D

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
AA Change: G166D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179392

Predicted Effect

probably benign
Transcript: ENSMUST00000180299
AA Change: G166D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,597,253 (GRCm39)	L693P	probably damaging	Het
Ankrd11	T	C	8: 123,614,136 (GRCm39)	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,557,559 (GRCm39)	I322T	probably damaging	Het
Cep76	A	T	18: 67,758,136 (GRCm39)	C385S	probably damaging	Het
Cercam	C	T	2: 29,771,827 (GRCm39)	S549F	probably damaging	Het
Coro1b	C	T	19: 4,200,610 (GRCm39)	T209I	possibly damaging	Het
Dlec1	G	T	9: 118,972,662 (GRCm39)	E1462*	probably null	Het
Ep400	C	T	5: 110,843,818 (GRCm39)		probably null	Het
Fam3d	A	T	14: 8,357,142 (GRCm38)	V96E	probably damaging	Het
Fgr	T	G	4: 132,727,533 (GRCm39)	V478G	probably benign	Het
Fmo9	T	A	1: 166,491,015 (GRCm39)	I437F	probably damaging	Het
Gabrd	A	T	4: 155,473,081 (GRCm39)	V64E	probably damaging	Het
Gsap	A	G	5: 21,456,051 (GRCm39)	Y385C	probably damaging	Het
H4c4	A	T	13: 23,765,778 (GRCm39)	N65I	possibly damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Helz	T	A	11: 107,485,972 (GRCm39)	M127K	probably null	Het
Hsp90b1	G	A	10: 86,529,367 (GRCm39)	A310V	probably damaging	Het
Hspa4	T	C	11: 53,155,919 (GRCm39)	Y662C	probably damaging	Het
Kif7	C	T	7: 79,360,727 (GRCm39)	R216H	probably damaging	Het
Klhl33	A	G	14: 51,129,285 (GRCm39)	I648T	probably benign	Het
Knl1	T	A	2: 118,912,031 (GRCm39)	L1716*	probably null	Het
Lgals9	T	A	11: 78,863,980 (GRCm39)	N55I	probably damaging	Het
Lmo7	A	T	14: 102,136,110 (GRCm39)	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467 (GRCm39)		probably null	Het
Mip	A	T	10: 128,061,934 (GRCm39)	I62F	possibly damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Npepl1	T	C	2: 173,963,329 (GRCm39)	F454L	possibly damaging	Het
Or10h28	A	T	17: 33,487,858 (GRCm39)	E53D	probably benign	Het
Or1j21	T	A	2: 36,683,277 (GRCm39)	S10T	probably benign	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or8b1b	A	T	9: 38,376,023 (GRCm39)	K229*	probably null	Het
Oxct1	T	A	15: 4,172,332 (GRCm39)	V466D	probably damaging	Het
Piezo2	T	A	18: 63,144,792 (GRCm39)	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,153,319 (GRCm39)	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,464,018 (GRCm39)	N277S	probably benign	Het
Rab33b	T	C	3: 51,400,837 (GRCm39)	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,604,331 (GRCm39)	S473G	probably benign	Het
Serpina1b	T	A	12: 103,694,694 (GRCm39)		probably null	Het
Slc25a17	A	T	15: 81,213,377 (GRCm39)		probably null	Het
Slc43a2	T	C	11: 75,436,633 (GRCm39)	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,393,548 (GRCm39)	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,755,120 (GRCm39)	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Specc1	T	C	11: 62,008,793 (GRCm39)	I183T	probably damaging	Het
Sucla2	A	G	14: 73,828,569 (GRCm39)	K362E	probably benign	Het
Tcf12	A	T	9: 71,792,584 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,658 (GRCm39)	P215S	probably benign	Het
Tmem41b	A	G	7: 109,574,072 (GRCm39)	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,698,670 (GRCm39)	F427S	probably damaging	Het
Wdr81	T	A	11: 75,335,574 (GRCm39)	S1752C	probably damaging	Het
Zbtb7a	A	G	10: 80,980,883 (GRCm39)	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,110,002 (GRCm39)	Y354C	probably damaging	Het
Zmpste24	T	A	4: 120,940,074 (GRCm39)	I191F	possibly damaging	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
R1078:Dlgap5	UTSW	14	47,637,023 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTGGGGAAAATCATCTCATCAG -3'
(R):5'- AGAATTCTCCAGTGAGCATATAAGG -3'

Sequencing Primer
(F):5'- AGATGCCTCCTGTCATTCAAGTG -3'
(R):5'- TGGACTTTAGACAAACCTGCCTG -3'

Posted On

2016-11-08