Mutagenetix > Incidental Mutations

Incidental Mutation 'R7932:Dlgap1'

643685

Institutional Source

Beutler Lab

Gene Symbol

Dlgap1

Ensembl Gene

ENSMUSG00000003279

Gene Name

DLG associated protein 1

Synonyms

GKAP/SAPAP, 4933422O14Rik, SAPAP1, Gkap, Sapap1, D17Bwg0511e, DAP-1 beta

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7932 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

69969073-70821413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70516238 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 73 (R73W)

Ref Sequence

ENSEMBL: ENSMUSP00000122896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000146730] [ENSMUST00000155016]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060072
AA Change: R73W

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

SMART Domains

Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: R73W

Domain	Start	End	E-Value	Type
low complexity region	180	210	N/A	INTRINSIC
low complexity region	515	539	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
low complexity region	628	642	N/A	INTRINSIC
Pfam:GKAP	643	982	6.8e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000133983
AA Change: R73W

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

SMART Domains

Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: R73W

Domain	Start	End	E-Value	Type
low complexity region	180	210	N/A	INTRINSIC
low complexity region	515	539	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
low complexity region	628	642	N/A	INTRINSIC
Pfam:GKAP	643	982	6.8e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135938
AA Change: R73W

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

SMART Domains

Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: R73W

Domain	Start	End	E-Value	Type
low complexity region	180	210	N/A	INTRINSIC
low complexity region	516	536	N/A	INTRINSIC
low complexity region	610	624	N/A	INTRINSIC
Pfam:GKAP	625	964	9.3e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146730
AA Change: R73W

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

SMART Domains

Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: R73W

Domain	Start	End	E-Value	Type
low complexity region	180	210	N/A	INTRINSIC
low complexity region	516	536	N/A	INTRINSIC
low complexity region	552	569	N/A	INTRINSIC
low complexity region	638	652	N/A	INTRINSIC
Pfam:GKAP	653	933	9.5e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155016
AA Change: R73W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: R73W

Domain	Start	End	E-Value	Type
low complexity region	180	210	N/A	INTRINSIC
low complexity region	516	536	N/A	INTRINSIC
low complexity region	552	569	N/A	INTRINSIC
low complexity region	638	652	N/A	INTRINSIC
Pfam:GKAP	660	992	2e-153	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,573,180	R666G	unknown	Het
Adam21	T	A	12: 81,560,164	N275Y	probably damaging	Het
Adam33	G	A	2: 131,063,697		probably benign	Het
Arhgap24	A	T	5: 102,845,969		probably benign	Het
Arhgef1	C	T	7: 24,919,710	L459F	probably damaging	Het
Bbx	A	T	16: 50,210,443		probably null	Het
Blk	C	T	14: 63,373,559	G445S	possibly damaging	Het
Brca1	T	C	11: 101,540,017	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,084,359	L513R	probably damaging	Het
Cnn3	T	A	3: 121,451,429	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,533	L716F	probably damaging	Het
Dnajc4	A	G	19: 6,988,270	L182P	probably damaging	Het
Dock2	T	C	11: 34,267,998	M1191V	probably benign	Het
Fam13a	C	T	6: 58,983,888		probably null	Het
Fbn2	C	T	18: 58,020,483	G2569E	possibly damaging	Het
Fes	T	C	7: 80,379,872	I623V	probably damaging	Het
Fyco1	A	C	9: 123,828,990	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,930,335	V7E	possibly damaging	Het
Gm12169	C	A	11: 46,535,539	P158T	probably benign	Het
Gm19410	T	A	8: 35,795,599	C897S	probably damaging	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
Hk1	A	G	10: 62,315,520	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,190,417	K261N	probably damaging	Het
Hrh4	T	A	18: 13,015,812	L77*	probably null	Het
Igf1r	A	T	7: 68,212,054	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,425,794	I24L	probably benign	Het
Itk	A	T	11: 46,340,692	W346R	probably benign	Het
Kdm2a	A	G	19: 4,319,156	S1144P	probably damaging	Het
Krt86	A	T	15: 101,476,592	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,222,916	I663V	probably benign	Het
Lrp2	T	G	2: 69,426,027	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,813,025	R434C	probably damaging	Het
Maneal	T	C	4: 124,861,845	Y108C	probably damaging	Het
Myh8	G	A	11: 67,294,604	V894I	probably benign	Het
Ncam2	T	G	16: 81,615,820	L732R	probably damaging	Het
Nsun4	A	T	4: 116,044,800	D156E	probably damaging	Het
Olfr111	T	C	17: 37,530,184	I69T	probably benign	Het
Olfr136	A	T	17: 38,335,255	I33L	probably benign	Het
Olfr1459	A	T	19: 13,145,981	M226K	probably benign	Het
Olfr382	A	C	11: 73,517,157	L14R	probably damaging	Het
Olfr419	T	C	1: 174,250,694	I78V	probably benign	Het
Olfr798	C	A	10: 129,625,225	V279F	probably damaging	Het
P2rx7	G	A	5: 122,644,182	V37I	probably benign	Het
Pcdh15	A	G	10: 74,645,527	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,663,460	S506P	probably damaging	Het
Pira2	A	T	7: 3,842,436		probably null	Het
Plch1	A	G	3: 63,701,981	V935A	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prpf8	A	G	11: 75,492,597	D607G	possibly damaging	Het
Ptdss1	T	C	13: 66,966,432	W215R	probably damaging	Het
Ptpn9	C	A	9: 57,036,616	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,821,350	V85A	possibly damaging	Het
Sacs	C	A	14: 61,204,878	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,531,550	S24T	probably benign	Het
Siae	A	G	9: 37,633,684	D325G	probably benign	Het
Slc22a23	C	A	13: 34,182,977	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,512,360	I244N	possibly damaging	Het
Srrm2	T	A	17: 23,818,527	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,551,786	Y207C	probably damaging	Het
Tnc	T	C	4: 64,008,620	I890V	probably benign	Het
Trim30a	A	T	7: 104,429,338	I177N	probably benign	Het
Tshz2	T	A	2: 169,886,331	M949K	possibly damaging	Het
Ttn	T	G	2: 76,725,186	T30492P	probably damaging	Het
Ubb	C	T	11: 62,552,785	Q214*	probably null	Het
Ulk2	A	G	11: 61,808,090	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,314,463	D149E	probably benign	Het
Zbtb24	A	G	10: 41,451,508	D130G	probably benign	Het
Zfp689	C	A	7: 127,444,351	G369V	probably damaging	Het
Zg16	A	G	7: 127,050,405	F128S	probably damaging	Het
Zmym1	T	G	4: 127,050,785	N203T	possibly damaging	Het

Other mutations in Dlgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Dlgap1	APN	17	70516085	missense	probably benign	0.02
IGL01413:Dlgap1	APN	17	70516074	missense	probably benign	0.00
IGL01531:Dlgap1	APN	17	70516379	missense	probably damaging	1.00
IGL02226:Dlgap1	APN	17	70516034	missense	probably damaging	1.00
BB009:Dlgap1	UTSW	17	70516238	missense	probably damaging	1.00
BB019:Dlgap1	UTSW	17	70516238	missense	probably damaging	1.00
R0453:Dlgap1	UTSW	17	70761346	missense	probably benign	0.03
R0482:Dlgap1	UTSW	17	70516190	missense	probably benign	0.11
R0520:Dlgap1	UTSW	17	70516994	nonsense	probably null
R1951:Dlgap1	UTSW	17	70761311	missense	probably damaging	0.96
R2072:Dlgap1	UTSW	17	70662770	missense	probably damaging	0.99
R2076:Dlgap1	UTSW	17	70786831	nonsense	probably null
R3438:Dlgap1	UTSW	17	70516361	missense	probably damaging	0.97
R3743:Dlgap1	UTSW	17	70718226	critical splice donor site	probably null
R3881:Dlgap1	UTSW	17	70786815	missense	probably damaging	1.00
R3981:Dlgap1	UTSW	17	70516785	missense	probably damaging	1.00
R4043:Dlgap1	UTSW	17	70761080	missense	probably damaging	1.00
R4272:Dlgap1	UTSW	17	70766043	missense	probably benign
R4273:Dlgap1	UTSW	17	70766043	missense	probably benign
R4557:Dlgap1	UTSW	17	70516689	missense	probably benign	0.01
R4652:Dlgap1	UTSW	17	70761095	missense	probably damaging	1.00
R4771:Dlgap1	UTSW	17	70593380	nonsense	probably null
R5000:Dlgap1	UTSW	17	70766058	missense	probably damaging	1.00
R5004:Dlgap1	UTSW	17	70718227	critical splice donor site	probably null
R5291:Dlgap1	UTSW	17	70718210	missense	probably benign	0.03
R5304:Dlgap1	UTSW	17	70815207	missense	probably damaging	1.00
R5473:Dlgap1	UTSW	17	70517030	intron	probably benign
R5522:Dlgap1	UTSW	17	70516998	critical splice donor site	probably null
R5586:Dlgap1	UTSW	17	70818161	missense	probably damaging	1.00
R5742:Dlgap1	UTSW	17	70718199	missense	probably benign
R5802:Dlgap1	UTSW	17	70766091	critical splice donor site	probably null
R5850:Dlgap1	UTSW	17	70787092	missense	probably damaging	1.00
R5857:Dlgap1	UTSW	17	70815393	intron	probably benign
R5883:Dlgap1	UTSW	17	70517013	intron	probably benign
R6045:Dlgap1	UTSW	17	70818098	missense	probably damaging	1.00
R6336:Dlgap1	UTSW	17	70815289	missense	probably damaging	1.00
R6448:Dlgap1	UTSW	17	70593330	missense	possibly damaging	0.59
R6682:Dlgap1	UTSW	17	70787123	missense	probably damaging	1.00
R6795:Dlgap1	UTSW	17	70818074	missense	possibly damaging	0.48
R7147:Dlgap1	UTSW	17	70662758	missense	probably benign	0.00
R7187:Dlgap1	UTSW	17	70516098	missense	possibly damaging	0.93
R7382:Dlgap1	UTSW	17	70787174	missense	probably damaging	1.00
R7859:Dlgap1	UTSW	17	70516688	missense	probably benign
R8477:Dlgap1	UTSW	17	70516972	missense	probably damaging	1.00
T0975:Dlgap1	UTSW	17	70516955	missense	possibly damaging	0.86
Z1176:Dlgap1	UTSW	17	70815209	missense	probably damaging	1.00
Z1177:Dlgap1	UTSW	17	70662743	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAAGGGTTATCGGGTAGCC -3'
(R):5'- TAAAGAGCTTCTGGACCGAGTG -3'

Sequencing Primer
(F):5'- ACCATGGGATCACCTGCGAG -3'
(R):5'- TATCGCTGCGATGCTCCACAG -3'

Posted On

2020-08-07