Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01065:Depdc7'

50391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Depdc7

Ensembl Gene

ENSMUSG00000027173

Gene Name

DEP domain containing 7

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01065

Quality Score

Status

Chromosome

Chromosomal Location

104552129-104573202 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 104552426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 460 (Y460*)

Ref Sequence

ENSEMBL: ENSMUSP00000028595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028595]

AlphaFold

Q91WS7

Predicted Effect

probably null
Transcript: ENSMUST00000028595
AA Change: Y460*

SMART Domains

Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: Y460*

Domain	Start	End	E-Value	Type
DEP	46	136	4.97e-24	SMART
low complexity region	461	478	N/A	INTRINSIC
low complexity region	480	493	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144133

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
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Apob	A	G	12: 8,053,299 (GRCm39)	Y1247C	probably damaging	Het
Atg16l1	A	T	1: 87,713,653 (GRCm39)	N401I	probably damaging	Het
Bcam	T	C	7: 19,490,724 (GRCm39)	H591R	probably benign	Het
Bcat1	T	C	6: 144,946,015 (GRCm39)	S446G	possibly damaging	Het
C2cd5	A	G	6: 143,024,005 (GRCm39)	S262P	probably damaging	Het
Clrn1	T	C	3: 58,792,446 (GRCm39)	K6E	probably damaging	Het
D17H6S53E	A	T	17: 35,346,259 (GRCm39)	K57*	probably null	Het
Dennd1a	T	A	2: 37,734,917 (GRCm39)	I17F	probably benign	Het
Disp3	T	C	4: 148,345,640 (GRCm39)	Y400C	probably damaging	Het
Edem3	T	C	1: 151,653,302 (GRCm39)	Y203H	probably damaging	Het
Fbxl5	A	G	5: 43,902,676 (GRCm39)	C679R	probably damaging	Het
Fhad1	T	C	4: 141,632,923 (GRCm39)	T1194A	probably benign	Het
Garin4	T	C	1: 190,895,224 (GRCm39)	D473G	probably benign	Het
Gipc2	A	G	3: 151,808,294 (GRCm39)	L253P	possibly damaging	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Hoxb6	A	G	11: 96,191,635 (GRCm39)	T186A	probably damaging	Het
Kif24	A	G	4: 41,423,639 (GRCm39)		probably benign	Het
Lonp1	T	C	17: 56,922,500 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,410,907 (GRCm39)	I1427T	probably benign	Het
Lrp2	C	T	2: 69,299,780 (GRCm39)	E3091K	possibly damaging	Het
Lzts1	T	C	8: 69,588,744 (GRCm39)	N404S	probably benign	Het
Map3k4	A	T	17: 12,451,877 (GRCm39)	D1470E	probably damaging	Het
Med30	A	T	15: 52,584,456 (GRCm39)	N125Y	probably benign	Het
Mgam	G	A	6: 40,639,644 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,447 (GRCm39)	R83*	probably null	Het
Notch3	A	T	17: 32,365,390 (GRCm39)	Y1107*	probably null	Het
Rc3h2	T	A	2: 37,267,856 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,138,090 (GRCm39)	E65G	possibly damaging	Het
Rgl1	T	C	1: 152,394,893 (GRCm39)	N760S	probably damaging	Het
Slc16a4	T	C	3: 107,210,416 (GRCm39)	I362T	possibly damaging	Het
Slc25a24	G	A	3: 109,065,967 (GRCm39)		probably benign	Het
Slc2a4	G	T	11: 69,836,782 (GRCm39)		probably benign	Het
Slc39a13	T	A	2: 90,894,051 (GRCm39)	I256F	probably damaging	Het
Spdya	A	T	17: 71,863,320 (GRCm39)	N23I	possibly damaging	Het
Srpra	T	A	9: 35,124,734 (GRCm39)	W112R	probably damaging	Het
Tbc1d4	A	C	14: 101,686,629 (GRCm39)		probably benign	Het
Ttc39d	G	A	17: 80,523,703 (GRCm39)	G121R	probably damaging	Het
Tuba3a	C	T	6: 125,259,920 (GRCm39)	V9M	possibly damaging	Het
Upf2	A	G	2: 5,966,111 (GRCm39)	K244E	unknown	Het
Usp39	T	C	6: 72,316,958 (GRCm39)	Y141C	probably damaging	Het

Other mutations in Depdc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Depdc7	APN	2	104,552,455 (GRCm39)	missense	possibly damaging	0.93
IGL02043:Depdc7	APN	2	104,560,626 (GRCm39)	missense	probably benign	0.17
IGL02819:Depdc7	APN	2	104,555,071 (GRCm39)	missense	probably benign	0.00
IGL02869:Depdc7	APN	2	104,560,694 (GRCm39)	missense	probably damaging	1.00
IGL02942:Depdc7	APN	2	104,558,439 (GRCm39)	missense	probably damaging	0.99
PIT4354001:Depdc7	UTSW	2	104,558,533 (GRCm39)	missense	probably benign	0.01
R0396:Depdc7	UTSW	2	104,557,668 (GRCm39)	splice site	probably benign
R0616:Depdc7	UTSW	2	104,557,650 (GRCm39)	missense	probably benign	0.33
R0631:Depdc7	UTSW	2	104,552,332 (GRCm39)	missense	possibly damaging	0.68
R0633:Depdc7	UTSW	2	104,553,226 (GRCm39)	missense	probably benign
R0856:Depdc7	UTSW	2	104,558,437 (GRCm39)	missense	probably benign	0.01
R0908:Depdc7	UTSW	2	104,558,437 (GRCm39)	missense	probably benign	0.01
R1184:Depdc7	UTSW	2	104,560,523 (GRCm39)	splice site	probably benign
R2129:Depdc7	UTSW	2	104,558,518 (GRCm39)	missense	probably benign	0.00
R5144:Depdc7	UTSW	2	104,560,598 (GRCm39)	missense	probably damaging	1.00
R6639:Depdc7	UTSW	2	104,555,098 (GRCm39)	missense	probably damaging	1.00
R7304:Depdc7	UTSW	2	104,553,463 (GRCm39)	missense	possibly damaging	0.89
R7552:Depdc7	UTSW	2	104,557,585 (GRCm39)	missense	possibly damaging	0.89
R7612:Depdc7	UTSW	2	104,560,853 (GRCm39)	missense	probably benign	0.39
R7835:Depdc7	UTSW	2	104,558,530 (GRCm39)	missense	probably benign	0.00
R8274:Depdc7	UTSW	2	104,558,551 (GRCm39)	missense	probably benign	0.12
R8475:Depdc7	UTSW	2	104,552,314 (GRCm39)	missense	probably benign	0.07
R8940:Depdc7	UTSW	2	104,554,913 (GRCm39)	critical splice donor site	probably null
R9499:Depdc7	UTSW	2	104,553,220 (GRCm39)	critical splice donor site	probably null
R9551:Depdc7	UTSW	2	104,553,220 (GRCm39)	critical splice donor site	probably null
X0028:Depdc7	UTSW	2	104,560,886 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21