Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Dlgap1'

687345

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

068864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70276068-71128408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70823855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 280 (L280Q)

Ref Sequence

ENSEMBL: ENSMUSP00000122896 (fasta)

Gene Model

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

AlphaFold

Q9D415

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060072
AA Change: L280Q

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: L280Q

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: ENSMUST00000133983
AA Change: L280Q

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: L280Q

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: L280Q

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: L280Q

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

possibly damaging
Transcript: ENSMUST00000146730
AA Change: L280Q

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: L280Q

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

possibly damaging
Transcript: ENSMUST00000155016
AA Change: L280Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: L280Q

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,461 (GRCm39)	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,510,460 (GRCm39)	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,693,167 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,963,842 (GRCm39)	V1784A	probably damaging	Het
Cabs1	T	C	5: 88,128,309 (GRCm39)	V320A	probably damaging	Het
Camta1	A	C	4: 151,229,159 (GRCm39)	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922 (GRCm39)	K466*	probably null	Het
Cdhr1	G	A	14: 36,810,924 (GRCm39)	P279L	possibly damaging	Het
Cenpe	A	G	3: 134,976,572 (GRCm39)	N2393S	probably benign	Het
Cep104	T	C	4: 154,063,462 (GRCm39)	V8A	probably benign	Het
Chaf1a	T	A	17: 56,371,110 (GRCm39)	V665E	probably damaging	Het
Clasp1	T	A	1: 118,431,583 (GRCm39)	D404E	probably damaging	Het
Clnk	G	A	5: 38,907,751 (GRCm39)	T169I	possibly damaging	Het
Cnst	G	A	1: 179,437,587 (GRCm39)	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,162 (GRCm39)	M15K	possibly damaging	Het
Dll1	T	C	17: 15,588,959 (GRCm39)	K572R	probably benign	Het
Dnai4	T	A	4: 102,905,499 (GRCm39)	K761*	probably null	Het
Dolk	C	A	2: 30,174,542 (GRCm39)	W501L	probably damaging	Het
Ednrb	G	A	14: 104,080,665 (GRCm39)	P83L	probably benign	Het
Edrf1	T	C	7: 133,245,431 (GRCm39)	W190R	probably damaging	Het
Epha5	T	A	5: 84,255,886 (GRCm39)	D468V	probably damaging	Het
Fat2	G	T	11: 55,194,547 (GRCm39)	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,717,041 (GRCm39)	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,758,449 (GRCm39)	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,161,140 (GRCm39)	S557R	probably benign	Het
Gmip	A	T	8: 70,273,298 (GRCm39)	H863L	probably damaging	Het
Grm3	A	T	5: 9,620,464 (GRCm39)	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,566,511 (GRCm39)	P64S	probably benign	Het
Hand1	A	C	11: 57,722,548 (GRCm39)	M22R	probably benign	Het
Ift70b	T	C	2: 75,767,596 (GRCm39)	T386A	probably benign	Het
Igsf21	A	G	4: 139,884,782 (GRCm39)	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,578,637 (GRCm39)	R291*	probably null	Het
Itih4	C	G	14: 30,618,650 (GRCm39)	P687R	probably benign	Het
Kifc3	C	T	8: 95,853,195 (GRCm39)	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,524,010 (GRCm39)	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,518,708 (GRCm39)	R101S	unknown	Het
L3mbtl2	T	A	15: 81,560,744 (GRCm39)		probably benign	Het
Lcor	A	T	19: 41,573,399 (GRCm39)	H718L	probably benign	Het
Lrrc73	T	C	17: 46,565,293 (GRCm39)	I8T	probably damaging	Het
Med19	C	A	2: 84,516,532 (GRCm39)		probably benign	Het
Mgarp	C	T	3: 51,296,264 (GRCm39)	S246N	unknown	Het
Mkrn2	T	C	6: 115,594,681 (GRCm39)	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,926,279 (GRCm39)	R137H	unknown	Het
Myo1g	A	G	11: 6,464,916 (GRCm39)	Y453H	probably damaging	Het
Nacc2	C	A	2: 25,951,605 (GRCm39)	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,725,217 (GRCm39)	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,488,595 (GRCm39)	T580K	probably damaging	Het
Nobox	A	T	6: 43,284,522 (GRCm39)	D41E	probably damaging	Het
Nsd1	A	G	13: 55,393,667 (GRCm39)	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,246,873 (GRCm39)	M370V	probably benign	Het
Olfm5	T	A	7: 103,803,099 (GRCm39)	N455Y	probably damaging	Het
Or2g7	T	C	17: 38,378,179 (GRCm39)	V39A	probably benign	Het
Or4c101	T	A	2: 88,389,863 (GRCm39)	F6I	probably damaging	Het
Or52e19	T	C	7: 102,959,186 (GRCm39)	I86T	probably damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or8k33	T	A	2: 86,384,021 (GRCm39)	Y149F	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Pclo	A	T	5: 14,763,192 (GRCm39)	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,573,176 (GRCm39)	Q1910L	probably damaging	Het
Plg	C	A	17: 12,609,107 (GRCm39)	Y137*	probably null	Het
Prkra	T	C	2: 76,460,856 (GRCm39)	I281V	probably benign	Het
Prrc2c	A	C	1: 162,503,295 (GRCm39)	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,279,149 (GRCm39)	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,708,290 (GRCm39)	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772 (GRCm38)	Y17N	possibly damaging	Het
Ryr1	A	T	7: 28,790,422 (GRCm39)	H1468Q	probably damaging	Het
Scp2	C	T	4: 107,912,717 (GRCm39)	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,080,381 (GRCm39)	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,782,238 (GRCm39)	S34G	probably benign	Het
Shisa9	T	A	16: 11,802,902 (GRCm39)	I153N	probably damaging	Het
Sin3b	C	A	8: 73,450,092 (GRCm39)	P3H	unknown	Het
Slc15a2	C	A	16: 36,602,719 (GRCm39)	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,726,586 (GRCm39)	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,909,187 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,476 (GRCm39)	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491 (GRCm39)	Q460K	probably benign	Het
Tlr11	A	T	14: 50,598,434 (GRCm39)	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945 (GRCm39)	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384 (GRCm39)		probably benign	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tpm1	A	G	9: 66,955,138 (GRCm39)	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,043,723 (GRCm39)		probably benign	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Ttn	T	C	2: 76,593,061 (GRCm39)	T20730A	possibly damaging	Het
Uap1	A	T	1: 169,977,013 (GRCm39)	Y395*	probably null	Het
Usp2	A	T	9: 43,987,176 (GRCm39)	D158V	probably damaging	Het
Usp30	A	G	5: 114,243,877 (GRCm39)	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,024,172 (GRCm39)	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,261,479 (GRCm39)	V286A	probably benign	Het
Xdh	T	C	17: 74,217,222 (GRCm39)	H682R	probably benign	Het
Zbed3	T	A	13: 95,472,999 (GRCm39)	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,820,162 (GRCm39)	C373R	possibly damaging	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
R4652:Dlgap1	UTSW	17	71,068,090 (GRCm39)	missense	probably damaging	1.00
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
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'- ACATGTGCCTCTACCACACG -3'
(R):5'- GGCCGAGTTGATCTAGACAGTTC -3'

Sequencing Primer
(F):5'- TCTACCACACGCCCTCGG -3'
(R):5'- TGATCTAGACAGTTCAGAATAGAGCC -3'

Posted On

2021-11-19