Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03387:Det1'

420908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Det1

Ensembl Gene

ENSMUSG00000030610

Gene Name

DET1 partner of COP1 E3 ubiquitin ligase

Synonyms

2610034H20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

IGL03387

Quality Score

Status

Chromosome

Chromosomal Location

78471295-78497011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78493372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 211 (C211S)

Ref Sequence

ENSEMBL: ENSMUSP00000032839 (fasta)

Gene Model

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

AlphaFold

Q9D0A0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032839
AA Change: C211S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: C211S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205762

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	C	13: 68,878,486 (GRCm39)	I384S	probably damaging	Het
Atxn7	T	C	14: 14,087,273 (GRCm38)		probably benign	Het
Blm	A	T	7: 80,143,895 (GRCm39)	V848D	probably damaging	Het
Cul1	G	T	6: 47,478,143 (GRCm39)	L175F	probably damaging	Het
Cyp4a29	A	G	4: 115,108,368 (GRCm39)	H364R	possibly damaging	Het
Ddx60	A	G	8: 62,465,483 (GRCm39)	D1380G	probably damaging	Het
Dnaaf9	A	G	2: 130,559,200 (GRCm39)	Y822H	probably damaging	Het
F5	A	C	1: 164,020,801 (GRCm39)	Q1092P	probably damaging	Het
Fam117b	A	C	1: 59,992,119 (GRCm39)	Y256S	probably benign	Het
Fbxl13	A	G	5: 21,728,796 (GRCm39)		probably null	Het
Galnt7	A	G	8: 57,979,212 (GRCm39)	I637T	probably benign	Het
H2-T24	T	A	17: 36,317,671 (GRCm39)	K120N	unknown	Het
Hes2	A	G	4: 152,244,269 (GRCm39)	K18R	probably damaging	Het
Icam5	A	T	9: 20,945,097 (GRCm39)	Q220L	probably benign	Het
Kdm8	G	A	7: 125,054,278 (GRCm39)	A170T	probably benign	Het
Krt40	G	A	11: 99,430,711 (GRCm39)	A321V	probably damaging	Het
Mapkbp1	T	A	2: 119,828,979 (GRCm39)	V45D	probably damaging	Het
Mbip	A	G	12: 56,382,597 (GRCm39)	Y290H	probably damaging	Het
Mical1	A	G	10: 41,354,195 (GRCm39)	Y48C	probably damaging	Het
Mslnl	T	C	17: 25,963,051 (GRCm39)	S300P	probably benign	Het
Nanog	T	C	6: 122,688,731 (GRCm39)	L104P	probably damaging	Het
Or10ak11	T	C	4: 118,687,238 (GRCm39)	Y132C	probably damaging	Het
Or4c113	A	T	2: 88,885,457 (GRCm39)	H104Q	probably damaging	Het
Or4f60	T	A	2: 111,902,007 (GRCm39)	Y307F	probably benign	Het
Or52n2c	A	T	7: 104,574,580 (GRCm39)	N130K	probably benign	Het
Oxgr1	C	A	14: 120,260,199 (GRCm39)	E3*	probably null	Het
Pam16	A	T	16: 4,434,671 (GRCm39)		probably benign	Het
Plcb1	A	T	2: 134,655,606 (GRCm39)		probably benign	Het
Slc25a32	A	T	15: 38,969,359 (GRCm39)	V58E	probably benign	Het
Slc2a12	G	T	10: 22,541,134 (GRCm39)	V330F	probably damaging	Het
Slit1	T	C	19: 41,591,881 (GRCm39)	E1247G	possibly damaging	Het
Supt5	A	T	7: 28,019,508 (GRCm39)	C519S	possibly damaging	Het
Szt2	A	G	4: 118,221,922 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,180 (GRCm39)	W294R	possibly damaging	Het
Tex21	A	T	12: 76,245,694 (GRCm39)	M534K	probably damaging	Het
Tmem132c	T	C	5: 127,640,784 (GRCm39)	I985T	probably benign	Het
Tmem87b	T	C	2: 128,665,019 (GRCm39)	V61A	probably benign	Het
Trhr2	G	A	8: 123,085,220 (GRCm39)		probably benign	Het
Ttc28	A	G	5: 111,381,208 (GRCm39)	D1209G	probably benign	Het
Uchl5	A	G	1: 143,677,940 (GRCm39)	E148G	probably benign	Het
Wdr62	T	C	7: 29,970,199 (GRCm39)	I203V	possibly damaging	Het
Wnk1	T	C	6: 119,931,148 (GRCm39)	I799V	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
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
R9740:Det1	UTSW	7	78,494,001 (GRCm39)	start codon destroyed	probably null	0.86

Posted On

2016-08-02