Mutagenetix > Incidental Mutations

Incidental Mutation 'R2072:Dlgap1'

227276

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

040077-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2072 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

69969073-70821413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70662770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 524 (R524C)

Ref Sequence

ENSEMBL: ENSMUSP00000116072 (fasta)

Gene Model

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

AlphaFold

Q9D415

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060072
AA Change: R524C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: R524C

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: R216C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: R216C

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 damaging
Transcript: ENSMUST00000133717
AA Change: R226C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: R226C

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

possibly damaging
Transcript: ENSMUST00000133983
AA Change: R524C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: R524C

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: ENSMUST00000135938
AA Change: R524C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: R524C

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: R224C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: R224C

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: R524C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: R524C

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: R224C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: R224C

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

noncoding transcript
Transcript: ENSMUST00000150260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150798

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155016
AA Change: R524C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: R524C

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
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
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
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'- AGTTCGAATCCGTGTGCGAG -3'
(R):5'- CCTGTGGATTCTCACATGGTGG -3'

Sequencing Primer
(F):5'- CGAGTCTGTGTTCAGCGAGC -3'
(R):5'- ATTCTCACATGGTGGTGGAG -3'

Posted On

2014-09-17