Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Deup1'

673194

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15592425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 280 (D280V)

Ref Sequence

ENSEMBL: ENSMUSP00000111255 (fasta)

Gene Model

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

AlphaFold

Q7M6Y5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045513
AA Change: D280V

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

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: D280V

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: D280V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: D280V

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: D280V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: D280V

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: ENSMUST00000152377
AA Change: D280V

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

SMART Domains

Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: D280V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,049,639 (GRCm38)	W69R	probably damaging	Het
Adamtsl4	C	T	3: 95,677,116 (GRCm38)	R990Q	possibly damaging	Het
Ahdc1	T	A	4: 133,065,432 (GRCm38)	V1328E	possibly damaging	Het
Bpifb2	A	G	2: 153,889,436 (GRCm38)	H244R	possibly damaging	Het
C87414	A	T	5: 93,636,457 (GRCm38)	Y383N	probably damaging	Het
Camk1	C	A	6: 113,338,148 (GRCm38)	V199L	probably damaging	Het
Ccdc18	A	T	5: 108,180,417 (GRCm38)	K661I	possibly damaging	Het
Cdh16	C	T	8: 104,618,242 (GRCm38)	V444I	probably benign	Het
Cep295	A	T	9: 15,332,419 (GRCm38)	Y1580*	probably null	Het
Cntnap5c	A	T	17: 58,055,668 (GRCm38)	N339Y	probably damaging	Het
Col6a3	C	G	1: 90,767,606 (GRCm38)		probably benign	Het
Dlat	G	T	9: 50,649,667 (GRCm38)	A360E	probably damaging	Het
Evpl	T	A	11: 116,222,193 (GRCm38)	D1557V	probably benign	Het
Ext1	A	G	15: 53,344,669 (GRCm38)	V232A	possibly damaging	Het
Gdpd5	T	C	7: 99,456,519 (GRCm38)	I514T	possibly damaging	Het
Gm14443	A	T	2: 175,168,900 (GRCm38)	C584*	probably null	Het
Gm2696	T	A	10: 77,836,200 (GRCm38)	C78S	unknown	Het
Gm4131	T	C	14: 62,463,851 (GRCm38)	D276G	possibly damaging	Het
Gm5114	C	T	7: 39,411,233 (GRCm38)	G64D	probably benign	Het
Gm5861	A	T	5: 11,186,441 (GRCm38)	Q147L	probably benign	Het
Gsx2	G	T	5: 75,076,094 (GRCm38)	A112S	probably benign	Het
Hebp1	G	T	6: 135,137,921 (GRCm38)	R181S	probably damaging	Het
Hectd4	G	A	5: 121,350,494 (GRCm38)	G3616D	probably damaging	Het
Hemgn	T	G	4: 46,394,638 (GRCm38)	T491P	probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331 (GRCm38)		probably null	Het
Itsn1	T	C	16: 91,839,833 (GRCm38)	S723P	unknown	Het
Kat6a	G	A	8: 22,908,277 (GRCm38)	G287D	probably damaging	Het
Ktn1	T	G	14: 47,670,300 (GRCm38)		probably benign	Het
Lrrc56	C	A	7: 141,198,333 (GRCm38)	D79E	possibly damaging	Het
Lrrn1	C	T	6: 107,567,342 (GRCm38)	Q34*	probably null	Het
Mlxipl	A	G	5: 135,128,629 (GRCm38)	M340V	probably benign	Het
Mroh6	T	C	15: 75,884,714 (GRCm38)	T604A	possibly damaging	Het
Olfr1228	A	T	2: 89,249,314 (GRCm38)	S115T	probably benign	Het
Olfr351	T	A	2: 36,859,598 (GRCm38)	Y250F	probably damaging	Het
Olfr541	G	T	7: 140,704,694 (GRCm38)	V148L	probably benign	Het
Palb2	A	C	7: 122,111,661 (GRCm38)	V1022G	unknown	Het
Pank1	T	G	19: 34,878,589 (GRCm38)	H163P	possibly damaging	Het
Pcdha12	A	G	18: 37,021,683 (GRCm38)	Q485R	probably benign	Het
Pcdhb15	T	A	18: 37,475,681 (GRCm38)	S655R	probably damaging	Het
Pcdhgb1	T	A	18: 37,681,414 (GRCm38)	C319*	probably null	Het
Pipox	A	T	11: 77,883,978 (GRCm38)	L93*	probably null	Het
Pkd1l1	A	C	11: 8,961,482 (GRCm38)	V265G		Het
Pld3	G	A	7: 27,539,654 (GRCm38)	Q149*	probably null	Het
Prpf3	T	A	3: 95,840,709 (GRCm38)	T415S	possibly damaging	Het
Rasgef1b	G	A	5: 99,300,036 (GRCm38)	T105I	unknown	Het
Rere	G	T	4: 150,617,335 (GRCm38)	E24*	probably null	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Ric3	A	T	7: 109,038,717 (GRCm38)	D277E	probably benign	Het
Rnf44	A	T	13: 54,684,013 (GRCm38)	M82K	probably damaging	Het
Rsph14	T	C	10: 74,959,684 (GRCm38)	N223S	probably benign	Het
Rusc2	A	G	4: 43,415,396 (GRCm38)	E234G	probably damaging	Het
Scfd2	T	C	5: 74,482,239 (GRCm38)	N349S	probably benign	Het
Sema3d	G	A	5: 12,505,855 (GRCm38)	C183Y	probably damaging	Het
Setd2	T	C	9: 110,573,844 (GRCm38)	I74T		Het
Slc39a12	T	C	2: 14,449,859 (GRCm38)	S563P	probably damaging	Het
Slc9a8	A	T	2: 167,473,534 (GRCm38)	D526V	probably damaging	Het
Smpdl3b	G	T	4: 132,733,749 (GRCm38)	T339N	probably damaging	Het
Spi1	G	A	2: 91,115,171 (GRCm38)	G199D	probably damaging	Het
Stx2	T	C	5: 128,993,500 (GRCm38)	T118A	probably damaging	Het
Synj2	C	A	17: 6,037,740 (GRCm38)	S1355R	possibly damaging	Het
Taf15	A	G	11: 83,499,138 (GRCm38)	T245A	probably benign	Het
Tnrc6b	C	T	15: 80,876,452 (GRCm38)	A120V	probably damaging	Het
Usp19	G	T	9: 108,493,735 (GRCm38)	G198W	probably damaging	Het
Wdtc1	G	T	4: 133,313,803 (GRCm38)	H46N	probably damaging	Het
Zbtb1	C	A	12: 76,385,872 (GRCm38)	R211S	probably damaging	Het
Zc3h8	A	G	2: 128,933,287 (GRCm38)	V151A	probably benign	Het
Zfp219	T	C	14: 52,007,442 (GRCm38)	T499A	possibly damaging	Het
Zfp689	A	G	7: 127,448,768 (GRCm38)	F31L	probably damaging	Het
Zfp879	C	T	11: 50,838,494 (GRCm38)	D26N	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
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
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'- TTACATACATGTATCCTGCACACAC -3'
(R):5'- TCTAGTGGGCAAACAAGAGC -3'

Sequencing Primer
(F):5'- GCACACCTGTCCTTTACATATATG -3'
(R):5'- AGCAATGGCAGTAGACTGTGTTG -3'

Posted On

2021-04-30