Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Dlgap1'

351439

Institutional Source

Beutler Lab

Gene Symbol

Dlgap1

Ensembl Gene

ENSMUSG00000003279

Gene Name

DLG associated protein 1

Synonyms

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

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70276068-71128408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71068090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 554 (Y554N)

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 damaging
Transcript: ENSMUST00000060072
AA Change: Y544N

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

SMART Domains

Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: Y544N

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

possibly damaging
Transcript: ENSMUST00000097288
AA Change: Y246N

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: Y246N

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

SMART Domains

Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279

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 damaging
Transcript: ENSMUST00000133983
AA Change: Y544N

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

SMART Domains

Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: Y544N

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

SMART Domains

Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279

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: ENSMUST00000140728
AA Change: Y254N

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

SMART Domains

Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: Y254N

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 damaging
Transcript: ENSMUST00000146730
AA Change: Y554N

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

SMART Domains

Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: Y554N

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: ENSMUST00000148486
AA Change: Y244N

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

SMART Domains

Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: Y244N

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 damaging
Transcript: ENSMUST00000155016
AA Change: Y554N

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

SMART Domains

Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: Y554N

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

0.5006

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Dlgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Dlgap1	APN	17	70,823,080 (GRCm39)	missense	probably benign	0.02
IGL01413:Dlgap1	APN	17	70,823,069 (GRCm39)	missense	probably benign	0.00
IGL01531:Dlgap1	APN	17	70,823,374 (GRCm39)	missense	probably damaging	1.00
IGL02226:Dlgap1	APN	17	70,823,029 (GRCm39)	missense	probably damaging	1.00
BB009:Dlgap1	UTSW	17	70,823,233 (GRCm39)	missense	probably damaging	1.00
BB019:Dlgap1	UTSW	17	70,823,233 (GRCm39)	missense	probably damaging	1.00
R0453:Dlgap1	UTSW	17	71,068,341 (GRCm39)	missense	probably benign	0.03
R0482:Dlgap1	UTSW	17	70,823,185 (GRCm39)	missense	probably benign	0.11
R0520:Dlgap1	UTSW	17	70,823,989 (GRCm39)	nonsense	probably null
R1951:Dlgap1	UTSW	17	71,068,306 (GRCm39)	missense	probably damaging	0.96
R2072:Dlgap1	UTSW	17	70,969,765 (GRCm39)	missense	probably damaging	0.99
R2076:Dlgap1	UTSW	17	71,093,826 (GRCm39)	nonsense	probably null
R3438:Dlgap1	UTSW	17	70,823,356 (GRCm39)	missense	probably damaging	0.97
R3743:Dlgap1	UTSW	17	71,025,221 (GRCm39)	critical splice donor site	probably null
R3881:Dlgap1	UTSW	17	71,093,810 (GRCm39)	missense	probably damaging	1.00
R3981:Dlgap1	UTSW	17	70,823,780 (GRCm39)	missense	probably damaging	1.00
R4043:Dlgap1	UTSW	17	71,068,075 (GRCm39)	missense	probably damaging	1.00
R4272:Dlgap1	UTSW	17	71,073,038 (GRCm39)	missense	probably benign
R4273:Dlgap1	UTSW	17	71,073,038 (GRCm39)	missense	probably benign
R4557:Dlgap1	UTSW	17	70,823,684 (GRCm39)	missense	probably benign	0.01
R4771:Dlgap1	UTSW	17	70,900,375 (GRCm39)	nonsense	probably null
R5000:Dlgap1	UTSW	17	71,073,053 (GRCm39)	missense	probably damaging	1.00
R5004:Dlgap1	UTSW	17	71,025,222 (GRCm39)	critical splice donor site	probably null
R5291:Dlgap1	UTSW	17	71,025,205 (GRCm39)	missense	probably benign	0.03
R5304:Dlgap1	UTSW	17	71,122,202 (GRCm39)	missense	probably damaging	1.00
R5473:Dlgap1	UTSW	17	70,824,025 (GRCm39)	intron	probably benign
R5522:Dlgap1	UTSW	17	70,823,993 (GRCm39)	critical splice donor site	probably null
R5586:Dlgap1	UTSW	17	71,125,156 (GRCm39)	missense	probably damaging	1.00
R5742:Dlgap1	UTSW	17	71,025,194 (GRCm39)	missense	probably benign
R5802:Dlgap1	UTSW	17	71,073,086 (GRCm39)	critical splice donor site	probably null
R5850:Dlgap1	UTSW	17	71,094,087 (GRCm39)	missense	probably damaging	1.00
R5857:Dlgap1	UTSW	17	71,122,388 (GRCm39)	intron	probably benign
R5883:Dlgap1	UTSW	17	70,824,008 (GRCm39)	intron	probably benign
R6045:Dlgap1	UTSW	17	71,125,093 (GRCm39)	missense	probably damaging	1.00
R6336:Dlgap1	UTSW	17	71,122,284 (GRCm39)	missense	probably damaging	1.00
R6448:Dlgap1	UTSW	17	70,900,325 (GRCm39)	missense	possibly damaging	0.59
R6682:Dlgap1	UTSW	17	71,094,118 (GRCm39)	missense	probably damaging	1.00
R6795:Dlgap1	UTSW	17	71,125,069 (GRCm39)	missense	possibly damaging	0.48
R7147:Dlgap1	UTSW	17	70,969,753 (GRCm39)	missense	probably benign	0.00
R7187:Dlgap1	UTSW	17	70,823,093 (GRCm39)	missense	possibly damaging	0.93
R7382:Dlgap1	UTSW	17	71,094,169 (GRCm39)	missense	probably damaging	1.00
R7859:Dlgap1	UTSW	17	70,823,683 (GRCm39)	missense	probably benign
R7932:Dlgap1	UTSW	17	70,823,233 (GRCm39)	missense	probably damaging	1.00
R8477:Dlgap1	UTSW	17	70,823,967 (GRCm39)	missense	probably damaging	1.00
R8673:Dlgap1	UTSW	17	71,122,293 (GRCm39)	missense	probably damaging	1.00
R8866:Dlgap1	UTSW	17	70,823,435 (GRCm39)	missense	probably damaging	1.00
R8910:Dlgap1	UTSW	17	71,093,815 (GRCm39)	missense	probably damaging	1.00
R8997:Dlgap1	UTSW	17	70,823,528 (GRCm39)	missense	possibly damaging	0.63
R9012:Dlgap1	UTSW	17	70,823,182 (GRCm39)	missense	possibly damaging	0.94
R9035:Dlgap1	UTSW	17	70,823,855 (GRCm39)	missense	possibly damaging	0.73
R9067:Dlgap1	UTSW	17	71,116,186 (GRCm39)	missense	probably damaging	1.00
R9361:Dlgap1	UTSW	17	71,068,259 (GRCm39)	missense	probably damaging	1.00
R9464:Dlgap1	UTSW	17	70,823,964 (GRCm39)	missense	probably benign	0.11
R9550:Dlgap1	UTSW	17	71,093,902 (GRCm39)	missense	possibly damaging	0.61
R9564:Dlgap1	UTSW	17	70,964,458 (GRCm39)	missense	probably benign	0.02
R9565:Dlgap1	UTSW	17	70,964,458 (GRCm39)	missense	probably benign	0.02
T0975:Dlgap1	UTSW	17	70,823,950 (GRCm39)	missense	possibly damaging	0.86
Z1176:Dlgap1	UTSW	17	71,122,204 (GRCm39)	missense	probably damaging	1.00
Z1177:Dlgap1	UTSW	17	70,969,738 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTTCCGTTTCAGAGGTG -3'
(R):5'- CCAGACTTTCGGTGGAGTTG -3'

Sequencing Primer
(F):5'- AGGTGGGTGTCCTCCAATCTC -3'
(R):5'- AGTTGCTGAGGCCAGACTG -3'

Posted On

2015-10-08