Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Deup1'

310343

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15599713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 257 (Y257H)

Ref Sequence

ENSEMBL: ENSMUSP00000111256 (fasta)

Gene Model

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

AlphaFold

Q7M6Y5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045513
AA Change: Y257H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: Y257H

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 damaging
Transcript: ENSMUST00000115592
AA Change: Y257H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: Y257H

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 damaging
Transcript: ENSMUST00000115593
AA Change: Y257H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: Y257H

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: Y257H

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: Y257H

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

0.0735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,554,700 (GRCm38)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,768,854 (GRCm38)	T624A	probably benign	Het
Atf2	T	C	2: 73,863,213 (GRCm38)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,587,045 (GRCm38)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,483,553 (GRCm38)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,426,169 (GRCm38)	T49P	probably benign	Het
Clip2	T	C	5: 134,522,993 (GRCm38)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,518,465 (GRCm38)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,170,480 (GRCm38)	C1342G	probably benign	Het
Def8	T	C	8: 123,458,344 (GRCm38)		probably benign	Het
Dennd4a	T	C	9: 64,872,028 (GRCm38)	S598P	probably damaging	Het
Dnajc28	G	A	16: 91,616,867 (GRCm38)	T187M	probably damaging	Het
Ect2	T	C	3: 27,138,540 (GRCm38)	D387G	probably damaging	Het
Fam208b	T	C	13: 3,596,785 (GRCm38)	E80G	probably damaging	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,794,055 (GRCm38)	I529N	probably benign	Het
Frs3	A	G	17: 47,703,435 (GRCm38)	D351G	probably damaging	Het
Gcat	T	A	15: 79,037,176 (GRCm38)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,635,195 (GRCm38)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,781,594 (GRCm38)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,567,256 (GRCm38)	I571T	probably benign	Het
Lsamp	T	C	16: 39,984,692 (GRCm38)	V11A	probably benign	Het
Mettl1	T	C	10: 127,045,129 (GRCm38)		probably null	Het
Mettl15	A	G	2: 109,191,579 (GRCm38)	I127T	probably benign	Het
Mipep	T	C	14: 60,808,995 (GRCm38)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,753,202 (GRCm38)	I156K	probably damaging	Het
Mobp	G	A	9: 120,167,956 (GRCm38)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,632,907 (GRCm38)	N97S	probably benign	Het
Myrip	A	G	9: 120,422,258 (GRCm38)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,349,456 (GRCm38)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,331,485 (GRCm38)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,131,646 (GRCm38)	R758G	possibly damaging	Het
Olfr170	A	G	16: 19,606,455 (GRCm38)	I71T	probably damaging	Het
Olfr58	T	G	9: 19,783,715 (GRCm38)	I194S	probably benign	Het
Olfr718-ps1	G	T	5: 143,137,397 (GRCm38)	S290R	probably benign	Het
Pdgfra	A	G	5: 75,167,927 (GRCm38)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,836,448 (GRCm38)	T759A	probably benign	Het
Pex2	C	T	3: 5,560,948 (GRCm38)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,945,703 (GRCm38)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,799,571 (GRCm38)	H829R	probably damaging	Het
Pum1	T	C	4: 130,764,082 (GRCm38)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,228,355 (GRCm38)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,765,224 (GRCm38)	F956I	probably damaging	Het
Samd1	G	A	8: 83,997,732 (GRCm38)		probably benign	Het
Slc4a11	A	T	2: 130,685,785 (GRCm38)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 76,062,260 (GRCm38)	V540A	probably benign	Het
Slfn8	G	A	11: 83,004,444 (GRCm38)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,979,909 (GRCm38)	I1537N	probably damaging	Het
Sorl1	G	A	9: 42,004,105 (GRCm38)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,151,913 (GRCm38)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,479,502 (GRCm38)	I176T	probably damaging	Het
Spint1	T	C	2: 119,248,802 (GRCm38)	I455T	probably benign	Het
Srp54a	A	G	12: 55,089,193 (GRCm38)		probably null	Het
Stoml3	T	A	3: 53,507,454 (GRCm38)	N222K	probably damaging	Het
Syce1	C	A	7: 140,779,896 (GRCm38)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,798,678 (GRCm38)	D222V	probably damaging	Het
Thsd7a	G	A	6: 12,418,337 (GRCm38)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,857,936 (GRCm38)	H723Y	probably benign	Het
Wdfy4	T	C	14: 33,047,280 (GRCm38)	E2076G	probably damaging	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
R2237:Deup1	UTSW	9	15,575,301 (GRCm38)	missense	probably damaging	1.00
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
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'- CACTGTCACACTGTCATTGTG -3'
(R):5'- AGGACAGCAGCTCTGAGATC -3'

Sequencing Primer
(F):5'- ACACTGTCATTGTGCTGATGC -3'
(R):5'- AGCAGCTCTGAGATCCCTCG -3'

Posted On

2015-04-17