Mutagenetix > Incidental Mutation

Incidental Mutation 'R9294:Dele1'

704510

Institutional Source

Beutler Lab

Gene Symbol

Dele1

Ensembl Gene

ENSMUSG00000024442

Gene Name

DAP3 binding cell death enhancer 1

Synonyms

0610009O20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R9294 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38383302-38395682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38394129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 442 (L442R)

Ref Sequence

ENSEMBL: ENSMUSP00000025314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025314]

AlphaFold

Q9DCV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025314
AA Change: L442R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: L442R

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
low complexity region	35	46	N/A	INTRINSIC
low complexity region	127	140	N/A	INTRINSIC
SEL1	244	277	1.53e2	SMART
SEL1	278	313	2.8e-9	SMART
SEL1	314	351	3.3e1	SMART
SEL1	352	385	1.31e0	SMART
SEL1	386	421	1.67e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	A	G	8: 84,730,008 (GRCm39)	Y165C	probably damaging	Het
Abcb11	T	A	2: 69,095,840 (GRCm39)	K833N	possibly damaging	Het
Abcb1a	T	A	5: 8,736,171 (GRCm39)	M188K	probably benign	Het
Akap1	A	T	11: 88,727,966 (GRCm39)	V672D	probably damaging	Het
Anapc4	A	G	5: 53,021,867 (GRCm39)	T650A	possibly damaging	Het
Ash1l	C	A	3: 88,890,297 (GRCm39)	S725R	possibly damaging	Het
Axdnd1	T	A	1: 156,247,917 (GRCm39)	K28*	probably null	Het
C8b	C	A	4: 104,644,192 (GRCm39)	H286Q	probably benign	Het
Cacna2d1	A	G	5: 16,217,396 (GRCm39)	K34E	probably damaging	Het
Ccdc14	T	A	16: 34,517,728 (GRCm39)	H154Q	probably damaging	Het
Ccdc184	A	G	15: 98,066,393 (GRCm39)	D66G	probably damaging	Het
Ccdc62	A	G	5: 124,092,772 (GRCm39)	I586V	possibly damaging	Het
Cfap20dc	A	G	14: 8,578,361 (GRCm38)	I127T	possibly damaging	Het
Chadl	A	T	15: 81,578,691 (GRCm39)	C313S	probably damaging	Het
Clec14a	C	A	12: 58,315,536 (GRCm39)	A29S	probably damaging	Het
Col26a1	C	T	5: 136,786,608 (GRCm39)	G161D	probably benign	Het
Cplane1	T	C	15: 8,232,811 (GRCm39)	V1110A	probably benign	Het
Ctbp2	A	G	7: 132,615,961 (GRCm39)	S325P	probably damaging	Het
Dcaf13	A	G	15: 38,993,687 (GRCm39)	D260G	possibly damaging	Het
Dhx37	G	A	5: 125,499,736 (GRCm39)	P575L	probably benign	Het
Dnajc6	T	C	4: 101,408,054 (GRCm39)		probably null	Het
Eapp	T	C	12: 54,737,061 (GRCm39)	T145A	unknown	Het
Efcab3	A	G	11: 104,722,126 (GRCm39)	I1913V	probably benign	Het
Efcab5	A	G	11: 77,012,064 (GRCm39)	M730T	probably benign	Het
Eif4g3	T	A	4: 137,917,968 (GRCm39)	D1305E	probably damaging	Het
Endou	A	T	15: 97,609,946 (GRCm39)	V450E	probably benign	Het
F10	A	T	8: 13,098,177 (GRCm39)	K127*	probably null	Het
Fbxw21	A	G	9: 108,972,830 (GRCm39)	F368S	probably damaging	Het
Fezf1	A	T	6: 23,245,797 (GRCm39)	L456Q	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fyco1	A	C	9: 123,623,878 (GRCm39)	C1384G	probably damaging	Het
Galnt6	G	T	15: 100,602,032 (GRCm39)	S258R	possibly damaging	Het
Gemin5	A	G	11: 58,028,574 (GRCm39)	V882A	probably benign	Het
Gm10750	A	G	2: 148,858,107 (GRCm39)	L48P	unknown	Het
Gm16503	T	A	4: 147,625,571 (GRCm39)	F22I	unknown	Het
Hdac10	A	G	15: 89,010,480 (GRCm39)	C281R	probably damaging	Het
Hikeshi	T	C	7: 89,584,968 (GRCm39)	S79G	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,330,191 (GRCm39)	E1603G	probably damaging	Het
Lrrc37a	A	T	11: 103,395,359 (GRCm39)	V22E	probably benign	Het
Man1a	C	T	10: 53,809,587 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,058,871 (GRCm39)	L5P	probably damaging	Het
Mup6	A	G	4: 60,004,838 (GRCm39)	I76M	probably benign	Het
Nbea	A	T	3: 55,998,513 (GRCm39)	M98K	probably benign	Het
Nckap1l	A	G	15: 103,381,966 (GRCm39)	E454G	probably damaging	Het
Notch3	A	T	17: 32,362,665 (GRCm39)	L1320Q	probably benign	Het
Nrn1	A	T	13: 36,910,648 (GRCm39)	L128H	probably damaging	Het
Numa1	T	C	7: 101,644,623 (GRCm39)	S200P	possibly damaging	Het
Numa1	A	G	7: 101,662,003 (GRCm39)	D1898G	probably damaging	Het
Or10ag58	G	A	2: 87,265,010 (GRCm39)	A60T	probably benign	Het
Or1af1	T	C	2: 37,110,122 (GRCm39)	I207T	possibly damaging	Het
Or2ag18	A	T	7: 106,405,605 (GRCm39)	S21R	possibly damaging	Het
Or5i1	A	C	2: 87,612,867 (GRCm39)		probably null	Het
P2ry6	A	T	7: 100,588,133 (GRCm39)	Y75*	probably null	Het
Pbrm1	T	A	14: 30,806,760 (GRCm39)	C1062*	probably null	Het
Pcdh15	A	G	10: 74,479,560 (GRCm39)	E557G	unknown	Het
Pcdh7	T	C	5: 57,878,677 (GRCm39)	L744P	probably benign	Het
Plekhg3	A	T	12: 76,609,052 (GRCm39)	I142L	possibly damaging	Het
Plk4	C	T	3: 40,766,326 (GRCm39)	H695Y	probably damaging	Het
Pms1	T	C	1: 53,247,216 (GRCm39)	H243R	probably benign	Het
Prdm14	T	C	1: 13,192,707 (GRCm39)	D344G	possibly damaging	Het
R3hdml	A	G	2: 163,344,252 (GRCm39)	I214V	probably benign	Het
Rab11fip5	T	C	6: 85,325,692 (GRCm39)	N238S	probably benign	Het
Resf1	T	A	6: 149,227,930 (GRCm39)	N325K	probably benign	Het
Sacs	T	A	14: 61,477,768 (GRCm39)	Y732N	possibly damaging	Het
Scfd1	T	A	12: 51,440,649 (GRCm39)	M187K	possibly damaging	Het
Serpina1d	A	G	12: 103,734,257 (GRCm39)	C16R	probably damaging	Het
Slc2a12	T	C	10: 22,540,994 (GRCm39)	I283T	possibly damaging	Het
Smarca5	A	G	8: 81,446,432 (GRCm39)	Y423H	probably damaging	Het
Srrm3	C	A	5: 135,897,115 (GRCm39)	A366E	unknown	Het
St7	A	T	6: 17,844,913 (GRCm39)	K134*	probably null	Het
St8sia5	T	G	18: 77,342,525 (GRCm39)	C412G	probably damaging	Het
Tanc2	A	T	11: 105,777,284 (GRCm39)	I821F	probably damaging	Het
Tbrg4	A	G	11: 6,574,204 (GRCm39)	M6T	probably benign	Het
Tcf20	A	T	15: 82,736,897 (GRCm39)	I1518N	probably benign	Het
Tctn3	A	G	19: 40,595,720 (GRCm39)	V355A	probably benign	Het
Tenm2	A	T	11: 35,915,327 (GRCm39)	F2070Y	probably damaging	Het
Tex2	A	G	11: 106,459,361 (GRCm39)	V23A	probably damaging	Het
Thrsp	C	G	7: 97,066,281 (GRCm39)	E144Q	probably damaging	Het
Tmt1a	A	G	15: 100,211,014 (GRCm39)	E213G	probably damaging	Het
Top2a	A	C	11: 98,891,904 (GRCm39)	S1114A	probably benign	Het
Tpm1	A	G	9: 66,936,998 (GRCm39)	Y267H	probably benign	Het
Txndc2	G	T	17: 65,946,019 (GRCm39)	P53T	unknown	Het
Ugt2b36	A	T	5: 87,228,876 (GRCm39)	I389N	probably damaging	Het
Virma	C	T	4: 11,513,507 (GRCm39)	R454*	probably null	Het
Vwa3b	T	A	1: 37,074,882 (GRCm39)	H16Q	probably damaging	Het
Zbp1	A	G	2: 173,052,436 (GRCm39)	M240T	possibly damaging	Het

Other mutations in Dele1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Dele1	APN	18	38,385,913 (GRCm39)	missense	probably damaging	0.96
IGL02456:Dele1	APN	18	38,394,177 (GRCm39)	missense	probably damaging	1.00
R0134:Dele1	UTSW	18	38,394,317 (GRCm39)	missense	probably benign	0.37
R0225:Dele1	UTSW	18	38,394,317 (GRCm39)	missense	probably benign	0.37
R0511:Dele1	UTSW	18	38,387,124 (GRCm39)	critical splice donor site	probably null
R0560:Dele1	UTSW	18	38,387,551 (GRCm39)	missense	probably damaging	1.00
R1899:Dele1	UTSW	18	38,391,395 (GRCm39)	missense	probably benign	0.04
R3005:Dele1	UTSW	18	38,393,012 (GRCm39)	missense	possibly damaging	0.92
R3552:Dele1	UTSW	18	38,391,418 (GRCm39)	splice site	probably benign
R4418:Dele1	UTSW	18	38,394,340 (GRCm39)	critical splice donor site	probably null
R7448:Dele1	UTSW	18	38,390,319 (GRCm39)	missense	probably damaging	1.00
R7671:Dele1	UTSW	18	38,392,978 (GRCm39)	missense	probably damaging	0.99
R9126:Dele1	UTSW	18	38,384,210 (GRCm39)	missense	probably benign
Z1177:Dele1	UTSW	18	38,387,356 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTTTAAGAAGACCCTGCCC -3'
(R):5'- CCAAGGATGGTATAGTCCTGCTG -3'

Sequencing Primer
(F):5'- TCTTTAATCCCAGGACTAGGGACAG -3'
(R):5'- ATAGTCCTGCTGGGGGC -3'

Posted On

2022-03-25