Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Dlgap1'

322306

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

041645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69969073-70821413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70766043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 686 (S686T)

Ref Sequence

ENSEMBL: ENSMUSP00000122896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000097288] [ENSMUST00000133717] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000140728] [ENSMUST00000146730] [ENSMUST00000148486] [ENSMUST00000155016]

AlphaFold

Q9D415

Predicted Effect

probably benign
Transcript: ENSMUST00000060072
AA Change: S676T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: S676T

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 benign
Transcript: ENSMUST00000097288
AA Change: S378T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: S378T

Domain	Start	End	E-Value	Type
low complexity region	208	228	N/A	INTRINSIC
low complexity region	244	261	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
Pfam:GKAP	345	625	9.4e-106	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126801

Predicted Effect

probably benign
Transcript: ENSMUST00000133717
AA Change: S360T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: S360T

Domain	Start	End	E-Value	Type
low complexity region	218	238	N/A	INTRINSIC
low complexity region	312	326	N/A	INTRINSIC
Pfam:GKAP	327	666	1.3e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133983
AA Change: S676T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: S676T

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 benign
Transcript: ENSMUST00000135938
AA Change: S658T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: S658T

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 benign
Transcript: ENSMUST00000140728
AA Change: S386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: S386T

Domain	Start	End	E-Value	Type
low complexity region	216	236	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	338	352	N/A	INTRINSIC
Pfam:GKAP	353	692	1.4e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146730
AA Change: S686T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: S686T

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 benign
Transcript: ENSMUST00000148486
AA Change: S376T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: S376T

Domain	Start	End	E-Value	Type
low complexity region	215	239	N/A	INTRINSIC
low complexity region	242	259	N/A	INTRINSIC
low complexity region	328	342	N/A	INTRINSIC
Pfam:GKAP	343	682	1.3e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155016
AA Change: S686T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: S686T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably 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
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
R7932:Dlgap1	UTSW	17	70516238	missense	probably damaging	1.00
R8477:Dlgap1	UTSW	17	70516972	missense	probably damaging	1.00
R8673:Dlgap1	UTSW	17	70815298	missense	probably damaging	1.00
R8866:Dlgap1	UTSW	17	70516440	missense	probably damaging	1.00
R8910:Dlgap1	UTSW	17	70786820	missense	probably damaging	1.00
R8997:Dlgap1	UTSW	17	70516533	missense	possibly damaging	0.63
R9012:Dlgap1	UTSW	17	70516187	missense	possibly damaging	0.94
R9035:Dlgap1	UTSW	17	70516860	missense	possibly damaging	0.73
R9067:Dlgap1	UTSW	17	70809191	missense	probably damaging	1.00
R9361:Dlgap1	UTSW	17	70761264	missense	probably damaging	1.00
R9464:Dlgap1	UTSW	17	70516969	missense	probably benign	0.11
R9550:Dlgap1	UTSW	17	70786907	missense	possibly damaging	0.61
R9564:Dlgap1	UTSW	17	70657463	missense	probably benign	0.02
R9565:Dlgap1	UTSW	17	70657463	missense	probably benign	0.02
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'- TCGCTGCTATCAGATGCAC -3'
(R):5'- GATGAATACTGTGCGGCCCTTC -3'

Sequencing Primer
(F):5'- CTGCTATCAGATGCACAAATGTGG -3'
(R):5'- TTCGCCACTCAGACGGGAG -3'

Posted On

2015-06-20