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

4933401K09Rik, Ccdc67

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

15471160-15539229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15486597 bp (GRCm39)

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: 25,136,303 (GRCm39)	E406G	probably benign	Het
Alox8	A	C	11: 69,076,597 (GRCm39)	S572A	probably benign	Het
Aoah	G	A	13: 20,978,481 (GRCm39)		probably benign	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,637,477 (GRCm39)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,114,135 (GRCm39)	P282L	probably damaging	Het
Brd7	T	A	8: 89,073,541 (GRCm39)	E283V	probably benign	Het
Btbd9	T	C	17: 30,553,302 (GRCm39)	I387V	probably benign	Het
Cacna1a	T	C	8: 85,360,394 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,629,704 (GRCm39)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,273,069 (GRCm39)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,834,219 (GRCm39)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdca7l	A	G	12: 117,837,761 (GRCm39)	E237G	probably damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Clhc1	T	G	11: 29,519,329 (GRCm39)	S379A	probably benign	Het
Dbf4	T	A	5: 8,458,542 (GRCm39)	I158L	possibly damaging	Het
Dlec1	T	C	9: 118,967,259 (GRCm39)		probably null	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Espl1	G	A	15: 102,224,004 (GRCm39)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,535,527 (GRCm39)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,384,303 (GRCm39)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 100,970,652 (GRCm39)	V236M	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,089,294 (GRCm39)	T422A	probably benign	Het
Izumo4	T	C	10: 80,538,664 (GRCm39)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kctd8	T	A	5: 69,267,752 (GRCm39)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,584,020 (GRCm39)	T152A	probably benign	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,568,531 (GRCm39)	T512S	probably benign	Het
Ltbp1	C	A	17: 75,617,158 (GRCm39)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,415,826 (GRCm39)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nid1	T	C	13: 13,675,070 (GRCm39)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,743,696 (GRCm39)	K108R	probably benign	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or13p3	A	G	4: 118,567,192 (GRCm39)	D196G	probably damaging	Het
Osbpl9	T	A	4: 109,013,854 (GRCm39)	Q80L	probably damaging	Het
Osm	A	G	11: 4,188,505 (GRCm39)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,763,952 (GRCm39)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,408,698 (GRCm39)	T173P	probably benign	Het
Pex1	T	C	5: 3,668,915 (GRCm39)		probably null	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,172,877 (GRCm39)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,558,893 (GRCm39)	Y183*	probably null	Het
Ryr2	T	A	13: 11,677,146 (GRCm39)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Siglecf	T	C	7: 43,004,409 (GRCm39)	V246A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,724,241 (GRCm39)	M313K	possibly damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,946,675 (GRCm39)	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,795,372 (GRCm39)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Ttll2	G	A	17: 7,619,522 (GRCm39)	T135I	probably benign	Het
Ubr4	A	G	4: 139,170,101 (GRCm39)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,004,104 (GRCm39)	E106K	probably damaging	Het
Xpc	T	C	6: 91,475,090 (GRCm39)	H643R	probably damaging	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in Deup1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Deup1	APN	9	15,472,666 (GRCm39)	missense	probably damaging	0.96
IGL00927:Deup1	APN	9	15,521,967 (GRCm39)	splice site	probably benign
IGL00946:Deup1	APN	9	15,472,534 (GRCm39)	missense	possibly damaging	0.62
IGL02458:Deup1	APN	9	15,503,656 (GRCm39)	missense	probably benign	0.02
IGL02567:Deup1	APN	9	15,486,579 (GRCm39)	missense	probably damaging	1.00
IGL03089:Deup1	APN	9	15,519,096 (GRCm39)	missense	possibly damaging	0.62
IGL03220:Deup1	APN	9	15,503,707 (GRCm39)	missense	probably benign	0.38
IGL03147:Deup1	UTSW	9	15,521,910 (GRCm39)	missense	probably damaging	0.99
PIT4468001:Deup1	UTSW	9	15,475,301 (GRCm39)	missense	possibly damaging	0.79
R0035:Deup1	UTSW	9	15,511,117 (GRCm39)	missense	possibly damaging	0.89
R0035:Deup1	UTSW	9	15,511,117 (GRCm39)	missense	possibly damaging	0.89
R0324:Deup1	UTSW	9	15,493,829 (GRCm39)	missense	probably benign	0.01
R0539:Deup1	UTSW	9	15,493,893 (GRCm39)	missense	possibly damaging	0.51
R0835:Deup1	UTSW	9	15,511,047 (GRCm39)	missense	probably damaging	1.00
R1666:Deup1	UTSW	9	15,486,487 (GRCm39)	missense	possibly damaging	0.92
R2212:Deup1	UTSW	9	15,511,139 (GRCm39)	missense	probably benign	0.00
R2238:Deup1	UTSW	9	15,486,597 (GRCm39)	missense	probably damaging	1.00
R2423:Deup1	UTSW	9	15,503,754 (GRCm39)	nonsense	probably null
R2929:Deup1	UTSW	9	15,486,484 (GRCm39)	missense	probably benign	0.03
R3890:Deup1	UTSW	9	15,511,009 (GRCm39)	missense	probably damaging	1.00
R3892:Deup1	UTSW	9	15,511,009 (GRCm39)	missense	probably damaging	1.00
R4941:Deup1	UTSW	9	15,499,323 (GRCm39)	missense	probably benign
R4959:Deup1	UTSW	9	15,523,310 (GRCm39)	nonsense	probably null
R4960:Deup1	UTSW	9	15,512,264 (GRCm39)	missense	possibly damaging	0.87
R4968:Deup1	UTSW	9	15,503,724 (GRCm39)	missense	probably damaging	0.99
R4973:Deup1	UTSW	9	15,523,310 (GRCm39)	nonsense	probably null
R5195:Deup1	UTSW	9	15,486,487 (GRCm39)	missense	possibly damaging	0.92
R5231:Deup1	UTSW	9	15,486,495 (GRCm39)	missense	probably damaging	0.96
R5470:Deup1	UTSW	9	15,493,916 (GRCm39)	splice site	probably null
R5931:Deup1	UTSW	9	15,472,618 (GRCm39)	missense	possibly damaging	0.55
R6049:Deup1	UTSW	9	15,472,552 (GRCm39)	missense	possibly damaging	0.75
R6373:Deup1	UTSW	9	15,472,638 (GRCm39)	missense	probably damaging	0.99
R6516:Deup1	UTSW	9	15,521,910 (GRCm39)	missense	probably damaging	0.99
R7948:Deup1	UTSW	9	15,521,944 (GRCm39)	missense	possibly damaging	0.76
R8373:Deup1	UTSW	9	15,503,671 (GRCm39)	missense	possibly damaging	0.80
R8725:Deup1	UTSW	9	15,503,721 (GRCm39)	missense	probably damaging	1.00
R9008:Deup1	UTSW	9	15,511,140 (GRCm39)	missense	probably damaging	0.99
R9462:Deup1	UTSW	9	15,493,882 (GRCm39)	missense	probably benign	0.04
R9545:Deup1	UTSW	9	15,519,120 (GRCm39)	missense	possibly damaging	0.95
Z1177:Deup1	UTSW	9	15,519,128 (GRCm39)	missense	probably benign	0.11
Z1177:Deup1	UTSW	9	15,512,199 (GRCm39)	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