Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02819:Depdc7'

360913

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 #

IGL02819

Quality Score

Status

Chromosome

Chromosomal Location

104552129-104573202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104555071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 280 (M280V)

Ref Sequence

ENSEMBL: ENSMUSP00000028595 (fasta)

Gene Model

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

AlphaFold

Q91WS7

Predicted Effect

probably benign
Transcript: ENSMUST00000028595
AA Change: M280V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: M280V

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	C	T	13: 54,712,033 (GRCm39)		probably benign	Het
Abcb8	T	A	5: 24,611,422 (GRCm39)	N470K	probably benign	Het
Adamtsl3	A	T	7: 82,223,329 (GRCm39)	N1037Y	probably damaging	Het
Adcy3	T	C	12: 4,256,986 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,597,524 (GRCm39)	D983G	possibly damaging	Het
Asf1a	A	G	10: 53,483,920 (GRCm39)	T118A	probably benign	Het
Atp2a3	T	C	11: 72,868,033 (GRCm39)	Y389H	probably damaging	Het
Atp5f1b	T	C	10: 127,919,821 (GRCm39)	I63T	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Caprin2	A	G	6: 148,749,756 (GRCm39)	V518A	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clcn2	C	A	16: 20,528,006 (GRCm39)	E487*	probably null	Het
Cog6	T	A	3: 52,916,966 (GRCm39)	K184M	probably damaging	Het
Cpn1	A	G	19: 43,956,907 (GRCm39)	Y286H	probably damaging	Het
Cpne9	A	T	6: 113,277,624 (GRCm39)	S448C	probably damaging	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Cys1	T	C	12: 24,717,169 (GRCm39)	E132G	possibly damaging	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Golga1	T	A	2: 38,929,090 (GRCm39)	N318Y	probably null	Het
Hsd3b6	A	G	3: 98,718,262 (GRCm39)	V34A	probably benign	Het
Krt9	A	G	11: 100,082,346 (GRCm39)	I193T	probably damaging	Het
Lama4	A	T	10: 38,902,565 (GRCm39)	I180F	possibly damaging	Het
Lamc1	T	C	1: 153,126,407 (GRCm39)	T458A	probably damaging	Het
Lin28b	A	T	10: 45,346,155 (GRCm39)	M1K	probably null	Het
Myo16	T	C	8: 10,372,600 (GRCm39)	C100R	probably damaging	Het
Nt5c3	A	T	6: 56,860,718 (GRCm39)	M279K	probably damaging	Het
Ppfia2	A	G	10: 106,742,255 (GRCm39)	Y1016C	probably damaging	Het
Rpl6	A	G	5: 121,345,264 (GRCm39)		probably benign	Het
Rpn2	G	T	2: 157,158,130 (GRCm39)		probably null	Het
Rspry1	T	C	8: 95,380,884 (GRCm39)	V396A	probably benign	Het
Serpina3i	C	T	12: 104,234,761 (GRCm39)	T364I	probably damaging	Het
Shprh	A	G	10: 11,030,509 (GRCm39)	K242R	possibly damaging	Het
Slit3	A	G	11: 35,062,417 (GRCm39)	N72S	possibly damaging	Het
Syt17	G	A	7: 118,009,143 (GRCm39)		probably benign	Het
Tatdn3	C	A	1: 190,787,541 (GRCm39)	A114S	probably benign	Het
Tjp2	A	G	19: 24,091,469 (GRCm39)	V564A	probably damaging	Het
Tmem117	T	C	15: 94,777,253 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,703 (GRCm39)	E452G	probably damaging	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Traf6	T	C	2: 101,515,134 (GRCm39)	S97P	probably damaging	Het
Ttc28	A	T	5: 111,414,449 (GRCm39)	E1321D	probably benign	Het

Other mutations in Depdc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Depdc7	APN	2	104,552,426 (GRCm39)	nonsense	probably null
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
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

2015-12-18