Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4354001:Depdc7'

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554807

Institutional Source

Beutler Lab

Gene Symbol

Depdc7

Ensembl Gene

ENSMUSG00000027173

Gene Name

DEP domain containing 7

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

PIT4354001 (G1)

Quality Score

156.008

Status

Not validated

Chromosome

Chromosomal Location

104721784-104742878 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104728188 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 163 (S163P)

Ref Sequence

ENSEMBL: ENSMUSP00000028595 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028595
AA Change: S163P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: S163P

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

Coding Region Coverage

1x: 92.5%
3x: 90.1%
10x: 83.2%
20x: 69.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	T	5: 62,654,049	Y1140N	probably damaging	Het
Ccdc83	A	T	7: 90,223,974	M391K	probably benign	Het
Cntnap1	A	T	11: 101,181,297	I459F	probably damaging	Het
Cr2	T	A	1: 195,166,309	Y302F	probably damaging	Het
Ctu2	A	T	8: 122,478,975	D179V	probably damaging	Het
Cubn	G	A	2: 13,468,852	Q427*	probably null	Het
Eif2s3y	C	T	Y: 1,020,126	R385C	probably benign	Het
Gigyf1	A	G	5: 137,524,104	K728R	unknown	Het
Gm1587	G	A	14: 77,797,033	R32*	probably null	Het
Gm17689	T	A	9: 36,581,301	S103C	possibly damaging	Het
Hfe2	T	C	3: 96,528,445	C340R	probably damaging	Het
Isy1	A	G	6: 87,833,671	I53T	possibly damaging	Het
Myh8	A	T	11: 67,289,630	N564I	probably benign	Het
Neb	A	T	2: 52,245,318	I3260N	probably damaging	Het
Npc1	C	T	18: 12,211,535	G426E	probably benign	Het
Nrd1	G	A	4: 109,054,025		probably null	Het
Olfr1221	C	A	2: 89,112,486	E9*	probably null	Het
Olfr1257	T	A	2: 89,881,508	S227R	probably benign	Het
Olfr56	G	A	11: 49,134,305	V38M	probably damaging	Het
Prss51	T	A	14: 64,097,097	V91D	probably damaging	Het
Qpct	A	C	17: 79,081,759	Y280S	probably benign	Het
Rbpms	A	G	8: 33,806,838	V137A	possibly damaging	Het
Rgl2	T	A	17: 33,933,940	M441K	possibly damaging	Het
Sdhaf3	A	T	6: 6,956,072	I16F	possibly damaging	Het
Slc38a3	T	G	9: 107,657,649	N176H	probably benign	Het
Sos1	T	C	17: 80,449,356	S256G	possibly damaging	Het
Spg11	A	T	2: 122,088,185	C988S	probably damaging	Het
Sync	A	T	4: 129,306,654	Q451L	possibly damaging	Het
Tbc1d31	A	G	15: 57,967,933	Y929C	probably benign	Het
Thbs2	G	A	17: 14,689,968	T123I	probably damaging	Het
Thsd7a	A	C	6: 12,331,927		probably null	Het
Tnfrsf11a	T	C	1: 105,821,517	L220P	probably damaging	Het
Trbv13-2	G	A	6: 41,121,818	C109Y	probably damaging	Het
Ugt3a1	G	A	15: 9,306,360	W198*	probably null	Het
Usp14	G	A	18: 9,996,189	R464W	probably damaging	Het
Vmn1r2	C	T	4: 3,172,162	S27L	probably benign	Het
Vmn1r68	T	A	7: 10,528,031	N47Y	probably benign	Het
Zfc3h1	T	A	10: 115,427,039	Y1719*	probably null	Het

Other mutations in Depdc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Depdc7	APN	2	104722081	nonsense	probably null
IGL01419:Depdc7	APN	2	104722110	missense	possibly damaging	0.93
IGL02043:Depdc7	APN	2	104730281	missense	probably benign	0.17
IGL02819:Depdc7	APN	2	104724726	missense	probably benign	0.00
IGL02869:Depdc7	APN	2	104730349	missense	probably damaging	1.00
IGL02942:Depdc7	APN	2	104728094	missense	probably damaging	0.99
R0396:Depdc7	UTSW	2	104727323	splice site	probably benign
R0616:Depdc7	UTSW	2	104727305	missense	probably benign	0.33
R0631:Depdc7	UTSW	2	104721987	missense	possibly damaging	0.68
R0633:Depdc7	UTSW	2	104722881	missense	probably benign
R0856:Depdc7	UTSW	2	104728092	missense	probably benign	0.01
R0908:Depdc7	UTSW	2	104728092	missense	probably benign	0.01
R1184:Depdc7	UTSW	2	104730178	splice site	probably benign
R2129:Depdc7	UTSW	2	104728173	missense	probably benign	0.00
R5144:Depdc7	UTSW	2	104730253	missense	probably damaging	1.00
R6639:Depdc7	UTSW	2	104724753	missense	probably damaging	1.00
R7304:Depdc7	UTSW	2	104723118	missense	possibly damaging	0.89
R7552:Depdc7	UTSW	2	104727240	missense	possibly damaging	0.89
R7612:Depdc7	UTSW	2	104730508	missense	probably benign	0.39
R7835:Depdc7	UTSW	2	104728185	missense	probably benign	0.00
R8274:Depdc7	UTSW	2	104728206	missense	probably benign	0.12
R8475:Depdc7	UTSW	2	104721969	missense	probably benign	0.07
X0028:Depdc7	UTSW	2	104730541	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACACACAGCACACTCTTTCTCTG -3'
(R):5'- TTTTACCAGGCCTCGCTCAG -3'

Sequencing Primer
(F):5'- CTTTCTCTGCTTGAACATGAAAATTC -3'
(R):5'- AGTGGTATCTACCTGTAAGCCCAG -3'

Posted On

2019-06-07