Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Deup1'

461852

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

044126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15561322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 471 (R471G)

Ref Sequence

ENSEMBL: ENSMUSP00000111256 (fasta)

Gene Model

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

AlphaFold

Q7M6Y5

Predicted Effect

probably benign
Transcript: ENSMUST00000045513
AA Change: R565G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: R565G

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

possibly damaging
Transcript: ENSMUST00000115592
AA Change: R471G

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: R471G

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: ENSMUST00000115593
AA Change: R471G

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: R471G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,814,189 (GRCm38)	T2M	probably damaging	Het
4930590J08Rik	A	T	6: 91,919,115 (GRCm38)	R315W	probably damaging	Het
Atrn	A	T	2: 130,933,436 (GRCm38)	Y153F	possibly damaging	Het
C4b	A	G	17: 34,729,193 (GRCm38)	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,498,940 (GRCm38)	K654T	probably damaging	Het
Cdh1	T	C	8: 106,666,332 (GRCm38)		probably null	Het
Chrna1	C	T	2: 73,568,100 (GRCm38)	V332M	probably benign	Het
Clca2	A	C	3: 145,092,125 (GRCm38)	V193G	possibly damaging	Het
Cyld	A	G	8: 88,729,842 (GRCm38)		probably null	Het
Dbt	A	T	3: 116,523,425 (GRCm38)	E83D	possibly damaging	Het
Dgcr2	T	A	16: 17,857,309 (GRCm38)	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,558,038 (GRCm38)	R524*	probably null	Het
Dnah5	A	T	15: 28,453,279 (GRCm38)	R4399W	probably damaging	Het
Egflam	G	A	15: 7,243,857 (GRCm38)	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,222,787 (GRCm38)	T211I	probably damaging	Het
Ep400	A	G	5: 110,735,520 (GRCm38)		probably benign	Het
Ermp1	C	G	19: 29,615,729 (GRCm38)	A788P	probably benign	Het
Ern1	A	G	11: 106,426,873 (GRCm38)	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,981,125 (GRCm38)	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,568,867 (GRCm38)	S444T	probably benign	Het
Gabra6	G	A	11: 42,307,441 (GRCm38)	T384M	probably benign	Het
Gm6169	A	G	13: 97,099,197 (GRCm38)	L14S	probably benign	Het
Gpbp1l1	T	C	4: 116,590,260 (GRCm38)	V379A	probably benign	Het
Hook2	G	T	8: 84,995,746 (GRCm38)	E305*	probably null	Het
Hoxa3	G	A	6: 52,172,588 (GRCm38)	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,341,915 (GRCm38)	P339Q	probably benign	Het
Igha	T	A	12: 113,260,090 (GRCm38)	T49S	probably benign	Het
Klra4	C	T	6: 130,053,053 (GRCm38)	V190M	possibly damaging	Het
Lats2	A	G	14: 57,696,131 (GRCm38)	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,421,616 (GRCm38)	T255A	probably benign	Het
Lpar6	A	G	14: 73,238,928 (GRCm38)	I110V	probably damaging	Het
Lrrtm4	A	G	6: 80,021,739 (GRCm38)	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,471,166 (GRCm38)	V371A	probably benign	Het
Muc20	A	T	16: 32,794,574 (GRCm38)	D144E	possibly damaging	Het
Nphp3	T	A	9: 104,020,746 (GRCm38)	D417E	probably damaging	Het
Olfr853	A	T	9: 19,537,333 (GRCm38)	I199K	probably benign	Het
Olfr889	A	G	9: 38,116,374 (GRCm38)	I193V	probably benign	Het
Paqr7	A	C	4: 134,507,720 (GRCm38)	Y296S	probably damaging	Het
Pcdha4	A	T	18: 36,954,755 (GRCm38)	T664S	probably damaging	Het
Pelo	T	A	13: 115,088,843 (GRCm38)	Y282F	probably benign	Het
Plxna2	A	T	1: 194,810,870 (GRCm38)	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,350,674 (GRCm38)	D319G	probably benign	Het
Pnmal1	C	A	7: 16,960,884 (GRCm38)	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,483,466 (GRCm38)		probably null	Het
Prkca	T	G	11: 108,014,310 (GRCm38)	I201L	probably benign	Het
Rfx2	G	A	17: 56,780,778 (GRCm38)	R538C	probably damaging	Het
Rph3a	T	C	5: 120,963,873 (GRCm38)	Q100R	probably damaging	Het
Rtel1	C	T	2: 181,330,815 (GRCm38)	R29*	probably null	Het
Scel	T	A	14: 103,605,624 (GRCm38)	Y547*	probably null	Het
Sp100	C	T	1: 85,679,083 (GRCm38)	P303L	probably damaging	Het
Stk31	A	G	6: 49,469,302 (GRCm38)	S958G	probably benign	Het
Syne2	T	A	12: 76,008,865 (GRCm38)	V4168E	probably benign	Het
Tenm3	A	T	8: 48,646,498 (GRCm38)	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755 (GRCm38)		probably benign	Het
Tmem248	T	A	5: 130,229,508 (GRCm38)	I14N	probably damaging	Het
Tor3a	T	C	1: 156,656,487 (GRCm38)	I298V	probably benign	Het
Trim69	A	T	2: 122,178,594 (GRCm38)	K378N	probably damaging	Het
Ttc28	C	T	5: 111,085,109 (GRCm38)	P151S	possibly damaging	Het
Uaca	T	C	9: 60,872,012 (GRCm38)	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,777,335 (GRCm38)	I343V	probably benign	Het
Wnk4	A	G	11: 101,261,221 (GRCm38)	T184A	probably damaging	Het
Ythdc2	T	A	18: 44,872,956 (GRCm38)	I1172K	possibly 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
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'- TGTGGAAACTAAGCCAGATTTCTC -3'
(R):5'- GGGCTCTGTCCAAAACTCAG -3'

Sequencing Primer
(F):5'- ATGAGTCCGCTTTGCAAGTG -3'
(R):5'- GGGCTCTGTCCAAAACTCAGTATTTC -3'

Posted On

2017-02-28