Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Deup1'

520715

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15610614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 85 (M85R)

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: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: M85R

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: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: M85R

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: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: M85R

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: ENSMUST00000152377
AA Change: M85R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: M85R

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,952,666 (GRCm38)	V93E	probably benign	Het
Adam18	A	G	8: 24,674,687 (GRCm38)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,699,387 (GRCm38)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,465,272 (GRCm38)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm38)	R43W	probably damaging	Het
Ano8	G	T	8: 71,481,780 (GRCm38)		probably null	Het
Arhgap31	A	G	16: 38,609,404 (GRCm38)	F370L	possibly damaging	Het
C7	A	G	15: 5,057,081 (GRCm38)	V26A	probably damaging	Het
Clec4a2	C	A	6: 123,139,406 (GRCm38)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,617,429 (GRCm38)	D341V	probably damaging	Het
Ddo	T	A	10: 40,631,745 (GRCm38)	V46E	probably damaging	Het
Dmxl2	A	T	9: 54,416,676 (GRCm38)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,465,386 (GRCm38)	F2147L	probably benign	Het
Dock10	T	C	1: 80,540,461 (GRCm38)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,731,899 (GRCm38)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,839,264 (GRCm38)	K447N	probably benign	Het
Eno2	G	T	6: 124,761,709 (GRCm38)		probably null	Het
Fastkd5	T	A	2: 130,614,301 (GRCm38)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 156,035,199 (GRCm38)	V1139M	probably damaging	Het
Gm10020	A	G	15: 52,477,804 (GRCm38)		noncoding transcript	Het
Gpbp1	A	T	13: 111,453,102 (GRCm38)	H111Q	probably benign	Het
Grk3	A	T	5: 112,961,549 (GRCm38)		probably benign	Het
Itpr3	C	T	17: 27,091,370 (GRCm38)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,462,000 (GRCm38)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,418,781 (GRCm38)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,642,255 (GRCm38)	N116K	probably damaging	Het
Krba1	C	T	6: 48,413,272 (GRCm38)	Q656*	probably null	Het
Mchr1	A	G	15: 81,237,868 (GRCm38)	Y273C	probably damaging	Het
Myh15	T	A	16: 49,137,633 (GRCm38)	C938S	probably benign	Het
Nutm1	T	C	2: 112,251,217 (GRCm38)	E367G	probably damaging	Het
Odf3	G	A	7: 140,848,805 (GRCm38)	G128S	probably damaging	Het
Olfr1143	A	T	2: 87,802,770 (GRCm38)	Y127F	possibly damaging	Het
Olfr1509	A	T	14: 52,451,129 (GRCm38)	T239S	probably damaging	Het
Olfr519	A	T	7: 108,893,765 (GRCm38)	I214K	probably damaging	Het
Olfr912	A	G	9: 38,581,472 (GRCm38)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,265,781 (GRCm38)	M1697I	probably benign	Het
Plcd1	A	G	9: 119,076,203 (GRCm38)	S147P	probably damaging	Het
Plin3	G	A	17: 56,286,223 (GRCm38)	P113L	probably damaging	Het
Pum3	C	A	19: 27,426,008 (GRCm38)	S31I	probably benign	Het
Robo1	T	C	16: 73,024,353 (GRCm38)	V1327A	probably benign	Het
Rpl34	G	A	3: 130,729,067 (GRCm38)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,912,112 (GRCm38)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,375,672 (GRCm38)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 125,088,107 (GRCm38)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,324,083 (GRCm38)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,957,761 (GRCm38)	T496A	probably benign	Het
Smap2	C	T	4: 120,983,106 (GRCm38)		probably null	Het
Sptbn5	T	A	2: 120,047,950 (GRCm38)		probably benign	Het
Taar5	A	G	10: 23,971,666 (GRCm38)	S321G	possibly damaging	Het
Tbx21	T	C	11: 97,099,956 (GRCm38)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,530,892 (GRCm38)		probably null	Het
Tenm3	G	C	8: 48,417,222 (GRCm38)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,844,068 (GRCm38)		probably null	Het
Tmem236	T	C	2: 14,195,980 (GRCm38)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,420,128 (GRCm38)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 85,070,727 (GRCm38)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,655,987 (GRCm38)	D227E	probably benign	Het
Usp33	A	C	3: 152,373,416 (GRCm38)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,380,958 (GRCm38)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,145,676 (GRCm38)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,867,302 (GRCm38)	A739V	probably benign	Het
Zfp628	C	G	7: 4,920,202 (GRCm38)	Y474*	probably null	Het
Zfp820	A	T	17: 21,819,373 (GRCm38)	C325S	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
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'- AAGGCAGTGCAGATGCTATC -3'
(R):5'- CACGACAAACATTTGCCCTTG -3'

Sequencing Primer
(F):5'- ACCCATGAGATAGTGAAAGTCTG -3'
(R):5'- TTGGCTCTGTGCAGCGC -3'

Posted On

2018-06-06