Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:Deup1'

240465

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

040237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15575301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 455 (I455S)

Ref Sequence

ENSEMBL: ENSMUSP00000039912 (fasta)

Gene Model

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

AlphaFold

Q7M6Y5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045513
AA Change: I455S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: I455S

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
AA Change: I361S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: I361S

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
AA Change: I361S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: I361S

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

Meta Mutation Damage Score

0.1290

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 24,646,287 (GRCm38)	E406G	probably benign	Het
Alox8	A	C	11: 69,185,771 (GRCm38)	S572A	probably benign	Het
Aoah	G	A	13: 20,794,311 (GRCm38)		probably benign	Het
Arhgap36	G	T	X: 49,493,405 (GRCm38)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,504,406 (GRCm38)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,074,976 (GRCm38)	P282L	probably damaging	Het
Brd7	T	A	8: 88,346,913 (GRCm38)	E283V	probably benign	Het
Btbd9	T	C	17: 30,334,328 (GRCm38)	I387V	probably benign	Het
Cacna1a	T	C	8: 84,633,765 (GRCm38)		probably null	Het
Cacna1c	T	C	6: 118,652,743 (GRCm38)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,345,331 (GRCm38)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,845,775 (GRCm38)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,820,897 (GRCm38)	M1K	probably null	Het
Cdca7l	A	G	12: 117,874,026 (GRCm38)	E237G	probably damaging	Het
Cep128	T	C	12: 91,347,567 (GRCm38)	T146A	probably benign	Het
Clhc1	T	G	11: 29,569,329 (GRCm38)	S379A	probably benign	Het
Dbf4	T	A	5: 8,408,542 (GRCm38)	I158L	possibly damaging	Het
Dlec1	T	C	9: 119,138,191 (GRCm38)		probably null	Het
Eomes	A	G	9: 118,482,291 (GRCm38)	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602 (GRCm38)	N518S	probably damaging	Het
Espl1	G	A	15: 102,315,569 (GRCm38)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,378,183 (GRCm38)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,555,235 (GRCm38)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 101,079,826 (GRCm38)	V236M	probably damaging	Het
Htatsf1	G	T	X: 57,066,504 (GRCm38)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,548,294 (GRCm38)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,490,071 (GRCm38)	T422A	probably benign	Het
Izumo4	T	C	10: 80,702,830 (GRCm38)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,007,719 (GRCm38)	M484L	probably benign	Het
Kctd8	T	A	5: 69,110,409 (GRCm38)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,694,008 (GRCm38)	T152A	probably benign	Het
Kntc1	T	C	5: 123,803,670 (GRCm38)	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,684,330 (GRCm38)	T512S	probably benign	Het
Ltbp1	C	A	17: 75,310,163 (GRCm38)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,301,070 (GRCm38)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,862,089 (GRCm38)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,676,554 (GRCm38)	P401S	probably benign	Het
Nid1	T	C	13: 13,500,485 (GRCm38)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,375,558 (GRCm38)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,852,870 (GRCm38)	K108R	probably benign	Het
Or10v5	T	C	19: 11,828,450 (GRCm38)	D192G	probably damaging	Het
Or13p3	A	G	4: 118,709,995 (GRCm38)	D196G	probably damaging	Het
Osbpl9	T	A	4: 109,156,657 (GRCm38)	Q80L	probably damaging	Het
Osm	A	G	11: 4,238,505 (GRCm38)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,713,938 (GRCm38)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,171,249 (GRCm38)	T173P	probably benign	Het
Pex1	T	C	5: 3,618,915 (GRCm38)		probably null	Het
Phka2	A	G	X: 160,541,412 (GRCm38)	E254G	probably damaging	Het
Pik3cb	A	G	9: 99,041,028 (GRCm38)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,290,824 (GRCm38)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,651,611 (GRCm38)	Y183*	probably null	Het
Ryr2	T	A	13: 11,662,260 (GRCm38)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,308,465 (GRCm38)	V50A	probably benign	Het
Siglecf	T	C	7: 43,354,985 (GRCm38)	V246A	probably benign	Het
Sp2	C	T	11: 96,955,936 (GRCm38)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,685,160 (GRCm38)	M313K	possibly damaging	Het
Spata4	A	C	8: 54,602,629 (GRCm38)	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676 (GRCm38)	I162V	probably damaging	Het
Stac	G	A	9: 111,690,122 (GRCm38)		probably benign	Het
Tas1r3	A	T	4: 155,862,218 (GRCm38)	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,342,337 (GRCm38)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,299,981 (GRCm38)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147 (GRCm38)	T984I	probably benign	Het
Ttll2	G	A	17: 7,352,123 (GRCm38)	T135I	probably benign	Het
Ubr4	A	G	4: 139,442,790 (GRCm38)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,168,270 (GRCm38)	E106K	probably damaging	Het
Xpc	T	C	6: 91,498,108 (GRCm38)	H643R	probably damaging	Het
Zan	G	A	5: 137,457,837 (GRCm38)	Q1354*	probably null	Het
Zpld2	A	C	4: 134,202,205 (GRCm38)	M263R	unknown	Het

Other mutations in Deup1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Deup1	APN	9	15,561,370 (GRCm38)	missense	probably damaging	0.96
IGL00927:Deup1	APN	9	15,610,671 (GRCm38)	splice site	probably benign
IGL00946:Deup1	APN	9	15,561,238 (GRCm38)	missense	possibly damaging	0.62
IGL02458:Deup1	APN	9	15,592,360 (GRCm38)	missense	probably benign	0.02
IGL02567:Deup1	APN	9	15,575,283 (GRCm38)	missense	probably damaging	1.00
IGL03089:Deup1	APN	9	15,607,800 (GRCm38)	missense	possibly damaging	0.62
IGL03220:Deup1	APN	9	15,592,411 (GRCm38)	missense	probably benign	0.38
IGL03147:Deup1	UTSW	9	15,610,614 (GRCm38)	missense	probably damaging	0.99
PIT4468001:Deup1	UTSW	9	15,564,005 (GRCm38)	missense	possibly damaging	0.79
R0035:Deup1	UTSW	9	15,599,821 (GRCm38)	missense	possibly damaging	0.89
R0035:Deup1	UTSW	9	15,599,821 (GRCm38)	missense	possibly damaging	0.89
R0324:Deup1	UTSW	9	15,582,533 (GRCm38)	missense	probably benign	0.01
R0539:Deup1	UTSW	9	15,582,597 (GRCm38)	missense	possibly damaging	0.51
R0835:Deup1	UTSW	9	15,599,751 (GRCm38)	missense	probably damaging	1.00
R1666:Deup1	UTSW	9	15,575,191 (GRCm38)	missense	possibly damaging	0.92
R2212:Deup1	UTSW	9	15,599,843 (GRCm38)	missense	probably benign	0.00
R2238:Deup1	UTSW	9	15,575,301 (GRCm38)	missense	probably damaging	1.00
R2423:Deup1	UTSW	9	15,592,458 (GRCm38)	nonsense	probably null
R2929:Deup1	UTSW	9	15,575,188 (GRCm38)	missense	probably benign	0.03
R3890:Deup1	UTSW	9	15,599,713 (GRCm38)	missense	probably damaging	1.00
R3892:Deup1	UTSW	9	15,599,713 (GRCm38)	missense	probably damaging	1.00
R4941:Deup1	UTSW	9	15,588,027 (GRCm38)	missense	probably benign
R4959:Deup1	UTSW	9	15,612,014 (GRCm38)	nonsense	probably null
R4960:Deup1	UTSW	9	15,600,968 (GRCm38)	missense	possibly damaging	0.87
R4968:Deup1	UTSW	9	15,592,428 (GRCm38)	missense	probably damaging	0.99
R4973:Deup1	UTSW	9	15,612,014 (GRCm38)	nonsense	probably null
R5195:Deup1	UTSW	9	15,575,191 (GRCm38)	missense	possibly damaging	0.92
R5231:Deup1	UTSW	9	15,575,199 (GRCm38)	missense	probably damaging	0.96
R5470:Deup1	UTSW	9	15,582,620 (GRCm38)	splice site	probably null
R5931:Deup1	UTSW	9	15,561,322 (GRCm38)	missense	possibly damaging	0.55
R6049:Deup1	UTSW	9	15,561,256 (GRCm38)	missense	possibly damaging	0.75
R6373:Deup1	UTSW	9	15,561,342 (GRCm38)	missense	probably damaging	0.99
R6516:Deup1	UTSW	9	15,610,614 (GRCm38)	missense	probably damaging	0.99
R7948:Deup1	UTSW	9	15,610,648 (GRCm38)	missense	possibly damaging	0.76
R8373:Deup1	UTSW	9	15,592,375 (GRCm38)	missense	possibly damaging	0.80
R8725:Deup1	UTSW	9	15,592,425 (GRCm38)	missense	probably damaging	1.00
R9008:Deup1	UTSW	9	15,599,844 (GRCm38)	missense	probably damaging	0.99
R9462:Deup1	UTSW	9	15,582,586 (GRCm38)	missense	probably benign	0.04
R9545:Deup1	UTSW	9	15,607,824 (GRCm38)	missense	possibly damaging	0.95
Z1177:Deup1	UTSW	9	15,607,832 (GRCm38)	missense	probably benign	0.11
Z1177:Deup1	UTSW	9	15,600,903 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTTATGGCCAAGCTGCATACCTG -3'
(R):5'- ACTTAACACCTCTTTAATGCAGCC -3'

Sequencing Primer
(F):5'- AAGCTGCATACCTGTCTCCACTG -3'
(R):5'- ATCTAAAATCTTTAGGGGGAACAAAG -3'

Posted On

2014-10-15