Mutagenetix > Incidental Mutations

Incidental Mutation 'R0035:Deup1'

19419

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

038329-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0035 (G1)

Quality Score

215

Status

Validated (trace)

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15599821 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 221 (R221G)

Ref Sequence

ENSEMBL: ENSMUSP00000111256 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045513
AA Change: R221G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: R221G

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

possibly damaging
Transcript: ENSMUST00000115592
AA Change: R221G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: R221G

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

possibly damaging
Transcript: ENSMUST00000115593
AA Change: R221G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: R221G

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

possibly damaging
Transcript: ENSMUST00000152377
AA Change: R221G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: R221G

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

0.0602

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,788,549	T20A	probably benign	Het
4932438A13Rik	T	A	3: 36,987,598	Y2708*	probably null	Het
9130011E15Rik	A	T	19: 45,891,240	M558K	probably damaging	Het
Aadacl4	A	G	4: 144,617,941	T96A	probably damaging	Het
Abcb6	A	G	1: 75,175,007	V473A	possibly damaging	Het
Abo	C	A	2: 26,843,373	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,315,779		probably benign	Het
Adcy8	A	T	15: 64,699,368	V1142D	probably benign	Het
Akna	T	A	4: 63,382,445	H591L	probably benign	Het
Aox2	T	C	1: 58,354,422	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,820,664		probably benign	Het
Atm	A	G	9: 53,513,180	V607A	probably benign	Het
Cass4	C	T	2: 172,416,492	P137S	probably damaging	Het
Cfap53	A	G	18: 74,300,207	E121G	probably damaging	Het
Chmp6	T	C	11: 119,916,682	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,967,549	Y185N	probably damaging	Het
Clic5	A	G	17: 44,275,313	T230A	probably damaging	Het
Clspn	G	T	4: 126,565,003		probably null	Het
Cntn1	T	A	15: 92,232,088		probably benign	Het
Col4a3	G	A	1: 82,672,753	G577R	unknown	Het
Defa21	T	A	8: 21,025,768		probably null	Het
Dnah8	A	T	17: 30,683,621		probably benign	Het
Dnase1l2	A	G	17: 24,441,075	V273A	probably damaging	Het
Gm5134	T	A	10: 75,993,864	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,690	E96D	probably damaging	Het
Hspd1	A	G	1: 55,083,783	V151A	probably benign	Het
Htr1f	A	C	16: 64,926,497	I144S	probably damaging	Het
Il1f8	A	T	2: 24,159,878	H167L	probably benign	Het
Il23r	A	G	6: 67,473,788		probably benign	Het
Il25	A	G	14: 54,933,096	E42G	probably damaging	Het
Klrb1-ps1	C	T	6: 129,129,343	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,485,621		probably benign	Het
Ktn1	A	G	14: 47,730,379	N1167D	probably benign	Het
Lama4	T	A	10: 39,072,738	D832E	probably benign	Het
Map1b	A	G	13: 99,435,338	S292P	probably damaging	Het
Map6	C	T	7: 99,317,608	T345I	probably damaging	Het
Mark2	A	T	19: 7,284,652		probably benign	Het
Me3	C	A	7: 89,851,759	H559Q	probably benign	Het
Myo1b	A	G	1: 51,778,382	F574L	probably damaging	Het
Nos2	T	C	11: 78,945,727	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,949,573	K208*	probably null	Het
Nup214	T	C	2: 31,990,367		probably null	Het
Obp2b	T	C	2: 25,738,633	L133P	probably damaging	Het
Olfr173	A	T	16: 58,797,122	C241*	probably null	Het
Olfr305	T	C	7: 86,364,187	D50G	possibly damaging	Het
Osbp2	C	T	11: 3,717,997		probably benign	Het
Ptafr	C	A	4: 132,579,553	L85I	probably benign	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Rad50	A	G	11: 53,655,027		probably benign	Het
Rasef	G	T	4: 73,762,854		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,256,737	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,841,408	N587D	probably benign	Het
Trank1	A	T	9: 111,366,776	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,224,320	S333P	probably damaging	Het
Ush2a	G	A	1: 188,356,888	V347I	probably benign	Het
Usp17le	G	T	7: 104,769,062	S291*	probably null	Het
Usp24	T	A	4: 106,368,027	S619T	probably benign	Het
Vmn2r10	T	C	5: 108,997,601		probably benign	Het
Vmn2r78	A	G	7: 86,920,205	E102G	probably benign	Het
Vwa3b	G	A	1: 37,165,689	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116	I639R	probably damaging	Het
Xpo5	A	G	17: 46,240,175	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,143,747	M235K	probably benign	Het
Zfp619	G	A	7: 39,537,282	G912D	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
R0324:Deup1	UTSW	9	15582533	missense	probably benign	0.01
R0539:Deup1	UTSW	9	15582597	missense	possibly damaging	0.51
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
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'- CCCATCAGTAATGGCTGGAGATGAAG -3'
(R):5'- CCTGTAAGGCTCAGCATGTCCTATG -3'

Sequencing Primer
(F):5'- AAGCTGAGCGCAGAGCC -3'
(R):5'- TCAGAAACCTGGACTGTATAAGC -3'

Posted On

2013-04-11