Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Deup1'

49710

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

038731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0539 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15582597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 416 (R416S)

Ref Sequence

ENSEMBL: ENSMUSP00000039912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045513] [ENSMUST00000115592] [ENSMUST00000115593] [ENSMUST00000152377]

AlphaFold

Q7M6Y5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045513
AA Change: R416S

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: R416S

Domain	Start	End	E-Value	Type
Pfam:CEP63	11	279	7.7e-92	PFAM
low complexity region	286	299	N/A	INTRINSIC
coiled coil region	353	397	N/A	INTRINSIC
coiled coil region	555	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115592

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977

Domain	Start	End	E-Value	Type
coiled coil region	29	59	N/A	INTRINSIC
coiled coil region	166	196	N/A	INTRINSIC
coiled coil region	226	277	N/A	INTRINSIC
low complexity region	286	299	N/A	INTRINSIC
coiled coil region	461	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115593

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977

Domain	Start	End	E-Value	Type
coiled coil region	29	59	N/A	INTRINSIC
coiled coil region	166	196	N/A	INTRINSIC
coiled coil region	226	277	N/A	INTRINSIC
low complexity region	286	299	N/A	INTRINSIC
coiled coil region	461	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137164

Predicted Effect

probably benign
Transcript: ENSMUST00000152377

SMART Domains

Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977

Domain	Start	End	E-Value	Type
coiled coil region	29	59	N/A	INTRINSIC
coiled coil region	166	196	N/A	INTRINSIC
coiled coil region	226	277	N/A	INTRINSIC
low complexity region	286	299	N/A	INTRINSIC
coiled coil region	353	397	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,868,692	G574S	probably damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Dcaf7	T	G	11: 106,051,826	S200A	probably damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1044	A	T	2: 86,171,043	M258K	probably damaging	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Vmn2r95	T	C	17: 18,452,100	F700L	probably damaging	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	probably damaging	Het

Other mutations in Deup1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Deup1	APN	9	15561370	missense	probably damaging	0.96
IGL00927:Deup1	APN	9	15610671	splice site	probably benign
IGL00946:Deup1	APN	9	15561238	missense	possibly damaging	0.62
IGL02458:Deup1	APN	9	15592360	missense	probably benign	0.02
IGL02567:Deup1	APN	9	15575283	missense	probably damaging	1.00
IGL03089:Deup1	APN	9	15607800	missense	possibly damaging	0.62
IGL03220:Deup1	APN	9	15592411	missense	probably benign	0.38
IGL03147:Deup1	UTSW	9	15610614	missense	probably damaging	0.99
PIT4468001:Deup1	UTSW	9	15564005	missense	possibly damaging	0.79
R0035:Deup1	UTSW	9	15599821	missense	possibly damaging	0.89
R0035:Deup1	UTSW	9	15599821	missense	possibly damaging	0.89
R0324:Deup1	UTSW	9	15582533	missense	probably benign	0.01
R0835:Deup1	UTSW	9	15599751	missense	probably damaging	1.00
R1666:Deup1	UTSW	9	15575191	missense	possibly damaging	0.92
R2212:Deup1	UTSW	9	15599843	missense	probably benign	0.00
R2237:Deup1	UTSW	9	15575301	missense	probably damaging	1.00
R2238:Deup1	UTSW	9	15575301	missense	probably damaging	1.00
R2423:Deup1	UTSW	9	15592458	nonsense	probably null
R2929:Deup1	UTSW	9	15575188	missense	probably benign	0.03
R3890:Deup1	UTSW	9	15599713	missense	probably damaging	1.00
R3892:Deup1	UTSW	9	15599713	missense	probably damaging	1.00
R4941:Deup1	UTSW	9	15588027	missense	probably benign
R4959:Deup1	UTSW	9	15612014	nonsense	probably null
R4960:Deup1	UTSW	9	15600968	missense	possibly damaging	0.87
R4968:Deup1	UTSW	9	15592428	missense	probably damaging	0.99
R4973:Deup1	UTSW	9	15612014	nonsense	probably null
R5195:Deup1	UTSW	9	15575191	missense	possibly damaging	0.92
R5231:Deup1	UTSW	9	15575199	missense	probably damaging	0.96
R5470:Deup1	UTSW	9	15582620	splice site	probably null
R5931:Deup1	UTSW	9	15561322	missense	possibly damaging	0.55
R6049:Deup1	UTSW	9	15561256	missense	possibly damaging	0.75
R6373:Deup1	UTSW	9	15561342	missense	probably damaging	0.99
R6516:Deup1	UTSW	9	15610614	missense	probably damaging	0.99
R7948:Deup1	UTSW	9	15610648	missense	possibly damaging	0.76
R8373:Deup1	UTSW	9	15592375	missense	possibly damaging	0.80
R8725:Deup1	UTSW	9	15592425	missense	probably damaging	1.00
R9008:Deup1	UTSW	9	15599844	missense	probably damaging	0.99
R9462:Deup1	UTSW	9	15582586	missense	probably benign	0.04
R9545:Deup1	UTSW	9	15607824	missense	possibly damaging	0.95
Z1177:Deup1	UTSW	9	15600903	missense	probably null	1.00
Z1177:Deup1	UTSW	9	15607832	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AATGAGCCCAAATCAGGTGCCC -3'
(R):5'- CTGCTCAAACTGGAAGAGAGTCAGG -3'

Sequencing Primer
(F):5'- CAACTGGGCAAGCTACTGTG -3'
(R):5'- ggatgggggtggtggag -3'

Posted On

2013-06-12