Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Depdc1b'

153755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Depdc1b

Ensembl Gene

ENSMUSG00000021697

Gene Name

DEP domain containing 1B

Synonyms

XTP1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

108316332-108407782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108362327 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 181 (N181K)

Ref Sequence

ENSEMBL: ENSMUSP00000131707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051594] [ENSMUST00000163307] [ENSMUST00000171178]

Predicted Effect

probably benign
Transcript: ENSMUST00000051594
AA Change: N181K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: N181K

Domain	Start	End	E-Value	Type
DEP	24	108	4.36e-20	SMART
Pfam:RhoGAP	267	347	8.3e-10	PFAM
low complexity region	464	480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163307
AA Change: N181K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: N181K

Domain	Start	End	E-Value	Type
DEP	24	108	4.36e-20	SMART
Pfam:RhoGAP	264	347	7.9e-10	PFAM
low complexity region	464	480	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167413

Predicted Effect

probably benign
Transcript: ENSMUST00000171178
AA Change: N181K

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

SMART Domains

Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: N181K

Domain	Start	End	E-Value	Type
DEP	24	108	4.36e-20	SMART
Pfam:RhoGAP	264	347	9.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172402

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Depdc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Depdc1b	APN	13	108357440	missense	probably benign
IGL01071:Depdc1b	APN	13	108357441	missense	probably benign
IGL02368:Depdc1b	APN	13	108363579	missense	probably benign
R0310:Depdc1b	UTSW	13	108373841	missense	possibly damaging	0.88
R0483:Depdc1b	UTSW	13	108373848	missense	probably benign	0.03
R0650:Depdc1b	UTSW	13	108323909	missense	probably damaging	1.00
R0900:Depdc1b	UTSW	13	108362260	missense	possibly damaging	0.68
R0932:Depdc1b	UTSW	13	108386835	missense	probably benign	0.23
R1757:Depdc1b	UTSW	13	108323948	missense	probably damaging	1.00
R2174:Depdc1b	UTSW	13	108362253	nonsense	probably null
R2308:Depdc1b	UTSW	13	108373841	missense	possibly damaging	0.88
R3941:Depdc1b	UTSW	13	108368836	missense	probably damaging	1.00
R4213:Depdc1b	UTSW	13	108388691	missense	probably damaging	1.00
R4613:Depdc1b	UTSW	13	108363643	missense	probably damaging	1.00
R4771:Depdc1b	UTSW	13	108382900	missense	probably benign	0.14
R5224:Depdc1b	UTSW	13	108384820	missense	probably damaging	1.00
R5292:Depdc1b	UTSW	13	108373842	missense	probably damaging	0.99
R6241:Depdc1b	UTSW	13	108324119	missense	possibly damaging	0.78
R6399:Depdc1b	UTSW	13	108324046	missense	probably damaging	1.00
R6418:Depdc1b	UTSW	13	108357422	missense	probably damaging	0.97
R7078:Depdc1b	UTSW	13	108386971	missense	possibly damaging	0.93
R7120:Depdc1b	UTSW	13	108362247	missense	probably benign	0.01
R7127:Depdc1b	UTSW	13	108323928	missense	probably damaging	1.00
R7209:Depdc1b	UTSW	13	108382855	missense	possibly damaging	0.55
R7385:Depdc1b	UTSW	13	108363632	missense	probably damaging	1.00
R8098:Depdc1b	UTSW	13	108324059	missense	probably damaging	0.97
R8552:Depdc1b	UTSW	13	108357425	missense	probably damaging	1.00

Posted On

2014-02-04