Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:Depdc1b'

62226

Institutional Source

Beutler Lab

Gene Symbol

Depdc1b

Ensembl Gene

ENSMUSG00000021697

Gene Name

DEP domain containing 1B

Synonyms

XTP1

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0650 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

108316332-108407782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108323909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 18 (N18D)

Ref Sequence

ENSEMBL: ENSMUSP00000132972 (fasta)

Gene Model

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

AlphaFold

Q8BH88

Predicted Effect

probably damaging
Transcript: ENSMUST00000051594
AA Change: N18D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: N18D

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 damaging
Transcript: ENSMUST00000163307
AA Change: N18D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: N18D

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

noncoding transcript
Transcript: ENSMUST00000168037

Predicted Effect

probably damaging
Transcript: ENSMUST00000171178
AA Change: N18D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: N18D

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

Meta Mutation Damage Score

0.9001

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	probably null	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
IGL01778:Depdc1b	APN	13	108362327	missense	probably benign	0.02
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
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
R8825:Depdc1b	UTSW	13	108384782	missense	possibly damaging	0.56
R8975:Depdc1b	UTSW	13	108388560	missense	probably null	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGTTGCATTACTTGCAGTCACC -3'
(R):5'- ACACCCTGCCATTACCTGTAGAGG -3'

Sequencing Primer
(F):5'- tccatctacctatttacccacttac -3'
(R):5'- CCATTACCTGTAGAGGTGACG -3'

Posted On

2013-07-30