Mutagenetix > Incidental Mutation

Incidental Mutation 'R9740:Det1'

731797

Institutional Source

Beutler Lab

Gene Symbol

Det1

Ensembl Gene

ENSMUSG00000030610

Gene Name

DET1 partner of COP1 E3 ubiquitin ligase

Synonyms

2610034H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R9740 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

78471295-78497011 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 78494001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000032839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032839] [ENSMUST00000107431]

AlphaFold

Q9D0A0

Predicted Effect

probably null
Transcript: ENSMUST00000032839
AA Change: M1K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Det1	142	547	2.6e-198	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107431

SMART Domains

Protein: ENSMUSP00000103054
Gene: ENSMUSG00000030610

Domain	Start	End	E-Value	Type
Pfam:Det1	6	138	2.7e-50	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	G	11: 5,821,721 (GRCm39)	Y1087D	probably benign	Het
Bdh1	A	G	16: 31,256,853 (GRCm39)	M37V	possibly damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cemip2	A	T	19: 21,822,105 (GRCm39)	M1167L	probably benign	Het
Clec1b	C	T	6: 129,380,549 (GRCm39)	S155L	probably benign	Het
Crym	A	T	7: 119,794,661 (GRCm39)	V186D	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Fam110b	A	G	4: 5,799,070 (GRCm39)	K163E	probably benign	Het
Fam234a	A	T	17: 26,432,789 (GRCm39)	V482E	probably damaging	Het
Grin2b	A	G	6: 135,899,868 (GRCm39)		probably null	Het
Herc1	A	G	9: 66,355,796 (GRCm39)	E2349G	probably damaging	Het
Kdsr	A	G	1: 106,667,126 (GRCm39)	Y210H	possibly damaging	Het
Lcn6	A	T	2: 25,571,191 (GRCm39)	T110S	probably benign	Het
Macf1	T	C	4: 123,266,177 (GRCm39)	H6807R	probably damaging	Het
Macf1	T	C	4: 123,366,853 (GRCm39)	Y2636C	probably damaging	Het
Myh2	T	G	11: 67,080,052 (GRCm39)	I1115S	probably damaging	Het
Npepl1	C	A	2: 173,963,283 (GRCm39)	N438K	probably damaging	Het
Nrros	G	A	16: 31,963,667 (GRCm39)	H117Y	possibly damaging	Het
Or12e13	T	C	2: 87,663,895 (GRCm39)	S171P	probably damaging	Het
Pitpnm3	T	C	11: 71,947,102 (GRCm39)	T782A	probably benign	Het
Pla2g4d	T	G	2: 120,107,952 (GRCm39)	Q319P	probably damaging	Het
Ptcd1	A	T	5: 145,096,294 (GRCm39)	D266E	probably benign	Het
Slitrk6	A	C	14: 110,987,430 (GRCm39)	L759W	probably damaging	Het
Slitrk6	T	G	14: 110,987,444 (GRCm39)	L754F	probably benign	Het
Sox5	A	T	6: 144,100,947 (GRCm39)	M14K	probably damaging	Het
Ssmem1	T	A	6: 30,512,454 (GRCm39)	D32E	possibly damaging	Het
St18	A	T	1: 6,873,287 (GRCm39)	R341*	probably null	Het
Stag1	T	C	9: 100,587,288 (GRCm39)	S4P	probably damaging	Het
Suz12	G	T	11: 79,889,920 (GRCm39)	E144*	probably null	Het
Tex52	A	G	6: 128,356,673 (GRCm39)	N122S	possibly damaging	Het
Tril	A	G	6: 53,795,104 (GRCm39)	L706P	possibly damaging	Het
Trim65	T	C	11: 116,021,434 (GRCm39)	D133G	probably benign	Het
Ttc6	A	T	12: 57,736,496 (GRCm39)	I1166F	probably damaging	Het
Zfp709	C	T	8: 72,643,134 (GRCm39)	R188C	probably damaging	Het
Zfp974	A	G	7: 27,610,025 (GRCm39)	C567R	probably damaging	Het
Zmiz1	A	G	14: 25,657,250 (GRCm39)	D842G	possibly damaging	Het

Other mutations in Det1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Det1	APN	7	78,489,807 (GRCm39)	missense	probably benign	0.00
IGL01611:Det1	APN	7	78,477,702 (GRCm39)	missense	possibly damaging	0.92
IGL01924:Det1	APN	7	78,493,571 (GRCm39)	nonsense	probably null
IGL02194:Det1	APN	7	78,489,912 (GRCm39)	missense	probably benign	0.00
IGL03387:Det1	APN	7	78,493,372 (GRCm39)	missense	possibly damaging	0.77
R0418:Det1	UTSW	7	78,493,765 (GRCm39)	missense	probably benign	0.08
R0633:Det1	UTSW	7	78,493,683 (GRCm39)	missense	probably benign	0.11
R1959:Det1	UTSW	7	78,493,191 (GRCm39)	missense	probably benign	0.08
R1966:Det1	UTSW	7	78,492,966 (GRCm39)	missense	probably damaging	1.00
R4612:Det1	UTSW	7	78,493,454 (GRCm39)	missense	probably damaging	1.00
R4809:Det1	UTSW	7	78,493,555 (GRCm39)	missense	probably damaging	1.00
R5193:Det1	UTSW	7	78,493,302 (GRCm39)	missense	probably damaging	1.00
R5661:Det1	UTSW	7	78,492,958 (GRCm39)	missense	probably damaging	0.97
R7106:Det1	UTSW	7	78,493,212 (GRCm39)	missense	probably damaging	1.00
R7673:Det1	UTSW	7	78,493,359 (GRCm39)	missense	possibly damaging	0.85
R8093:Det1	UTSW	7	78,493,257 (GRCm39)	missense	possibly damaging	0.87
R9009:Det1	UTSW	7	78,492,984 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTTTCGACGTTGACAACC -3'
(R):5'- TGTGCCCTTAGACCCTGAGTAG -3'

Sequencing Primer
(F):5'- TTTCGACGTTGACAACCGTGAAG -3'
(R):5'- TGGCTTATTCTTCGAAAATTCCTG -3'

Posted On

2022-11-14