Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Deup1'

400119

Institutional Source

Beutler Lab

Gene Symbol

Deup1

Ensembl Gene

ENSMUSG00000039977

Gene Name

deuterosome assembly protein 1

Synonyms

Ccdc67, 4933401K09Rik

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15559864-15627933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15575191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 398 (Y398N)

Ref Sequence

ENSEMBL: ENSMUSP00000111256 (fasta)

Gene Model

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

AlphaFold

Q7M6Y5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045513
AA Change: Y492N

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: Y492N

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: Y398N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: Y398N

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: Y398N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: Y398N

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

0.1286

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,198,968	Y381C	probably damaging	Het
Apoo-ps	T	C	13: 107,414,553		noncoding transcript	Het
Arhgef40	T	A	14: 51,989,812	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,453,439	L358P	possibly damaging	Het
Bicra	G	A	7: 15,979,953	P775S	possibly damaging	Het
Ccdc78	T	A	17: 25,789,988		probably null	Het
Ccnb1-ps	T	A	7: 42,106,098		noncoding transcript	Het
Cct6a	A	T	5: 129,794,655		noncoding transcript	Het
Cep120	T	A	18: 53,721,698	H455L	probably damaging	Het
Cobl	C	T	11: 12,253,565	V964I	probably benign	Het
Cpt1a	A	T	19: 3,383,800	I761F	possibly damaging	Het
Crk	T	A	11: 75,679,463	Y14N	probably damaging	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Fam196a	A	T	7: 134,884,416	F469I	probably damaging	Het
Fanca	A	G	8: 123,303,945		probably benign	Het
Gbp4	T	A	5: 105,119,532	D507V	probably benign	Het
Gtf2i	A	T	5: 134,244,832	L740*	probably null	Het
Hmgn2	C	A	4: 133,967,286	A8S	probably benign	Het
Hook2	A	T	8: 84,994,776	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,736,526	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,499,889		probably null	Het
Kbtbd3	G	C	9: 4,316,905	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,531	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,650,290	E96G	possibly damaging	Het
Kptn	A	G	7: 16,123,103	Y172C	probably damaging	Het
Krt86	T	A	15: 101,476,933	M328K	probably benign	Het
Lama1	A	G	17: 67,764,800	D894G	probably benign	Het
Lars2	T	C	9: 123,453,310	V653A	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lhcgr	A	T	17: 88,742,946	V384D	probably damaging	Het
Malrd1	C	T	2: 16,150,810	T2010M	unknown	Het
Maml2	T	A	9: 13,621,114	N541K	probably damaging	Het
Med24	T	C	11: 98,710,281	K585R	possibly damaging	Het
Muc20	G	A	16: 32,794,476	S177L	unknown	Het
Mylk	T	A	16: 34,979,215	F1658L	probably damaging	Het
Obscn	C	T	11: 59,060,850	V4392I	possibly damaging	Het
Olfr744	T	C	14: 50,618,786	L188P	probably damaging	Het
Olfr975	A	G	9: 39,950,679	S31P	probably benign	Het
Pcnx2	A	T	8: 125,801,549	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,126,855	L521P	probably damaging	Het
Pde4a	A	G	9: 21,204,333	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,265,988	L103*	probably null	Het
Pkd2	G	A	5: 104,486,681	R526Q	probably benign	Het
Polr2a	T	C	11: 69,744,079	Y618C	probably damaging	Het
Pramef25	T	A	4: 143,950,880	E43V	probably damaging	Het
Pramel5	T	A	4: 144,271,741	M311L	probably benign	Het
Rbbp8	T	C	18: 11,722,151	F478L	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryk	T	C	9: 102,867,613	V122A	probably benign	Het
Sik3	G	T	9: 46,208,844		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc35e4	T	A	11: 3,912,872	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,633,671	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,394,710	K32N	probably damaging	Het
Spag17	T	C	3: 100,101,388	Y1945H	probably benign	Het
St7	A	G	6: 17,743,637		probably benign	Het
Stab1	C	A	14: 31,140,521		probably benign	Het
Taf13	G	A	3: 108,581,074	R91Q	probably damaging	Het
Tmem200a	T	C	10: 26,078,956		probably benign	Het
Tnc	A	T	4: 63,967,252	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,804,655	H439R	probably damaging	Het
Trpm1	T	C	7: 64,237,693	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,956,034	A831T	probably benign	Het
Wdr89	C	T	12: 75,633,288	R64Q	probably benign	Het
Zbed5	G	T	5: 129,902,178	V323F	probably benign	Het
Zeb2	T	C	2: 45,001,635	R287G	probably damaging	Het

Other mutations in Deup1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Deup1	APN	9	15561370	missense	probably damaging	0.96
IGL00927:Deup1	APN	9	15610671	splice site	probably benign
IGL00946:Deup1	APN	9	15561238	missense	possibly damaging	0.62
IGL02458:Deup1	APN	9	15592360	missense	probably benign	0.02
IGL02567:Deup1	APN	9	15575283	missense	probably damaging	1.00
IGL03089:Deup1	APN	9	15607800	missense	possibly damaging	0.62
IGL03220:Deup1	APN	9	15592411	missense	probably benign	0.38
IGL03147:Deup1	UTSW	9	15610614	missense	probably damaging	0.99
PIT4468001:Deup1	UTSW	9	15564005	missense	possibly damaging	0.79
R0035:Deup1	UTSW	9	15599821	missense	possibly damaging	0.89
R0035:Deup1	UTSW	9	15599821	missense	possibly damaging	0.89
R0324:Deup1	UTSW	9	15582533	missense	probably benign	0.01
R0539:Deup1	UTSW	9	15582597	missense	possibly damaging	0.51
R0835:Deup1	UTSW	9	15599751	missense	probably damaging	1.00
R1666:Deup1	UTSW	9	15575191	missense	possibly damaging	0.92
R2212:Deup1	UTSW	9	15599843	missense	probably benign	0.00
R2237:Deup1	UTSW	9	15575301	missense	probably damaging	1.00
R2238:Deup1	UTSW	9	15575301	missense	probably damaging	1.00
R2423:Deup1	UTSW	9	15592458	nonsense	probably null
R2929:Deup1	UTSW	9	15575188	missense	probably benign	0.03
R3890:Deup1	UTSW	9	15599713	missense	probably damaging	1.00
R3892:Deup1	UTSW	9	15599713	missense	probably damaging	1.00
R4941:Deup1	UTSW	9	15588027	missense	probably benign
R4959:Deup1	UTSW	9	15612014	nonsense	probably null
R4960:Deup1	UTSW	9	15600968	missense	possibly damaging	0.87
R4968:Deup1	UTSW	9	15592428	missense	probably damaging	0.99
R4973:Deup1	UTSW	9	15612014	nonsense	probably null
R5231:Deup1	UTSW	9	15575199	missense	probably damaging	0.96
R5470:Deup1	UTSW	9	15582620	splice site	probably null
R5931:Deup1	UTSW	9	15561322	missense	possibly damaging	0.55
R6049:Deup1	UTSW	9	15561256	missense	possibly damaging	0.75
R6373:Deup1	UTSW	9	15561342	missense	probably damaging	0.99
R6516:Deup1	UTSW	9	15610614	missense	probably damaging	0.99
R7948:Deup1	UTSW	9	15610648	missense	possibly damaging	0.76
R8373:Deup1	UTSW	9	15592375	missense	possibly damaging	0.80
R8725:Deup1	UTSW	9	15592425	missense	probably damaging	1.00
R9008:Deup1	UTSW	9	15599844	missense	probably damaging	0.99
R9462:Deup1	UTSW	9	15582586	missense	probably benign	0.04
R9545:Deup1	UTSW	9	15607824	missense	possibly damaging	0.95
Z1177:Deup1	UTSW	9	15600903	missense	probably null	1.00
Z1177:Deup1	UTSW	9	15607832	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AGTGTGTCCAGACTCCTGTG -3'
(R):5'- TCTTGCCAACACAGGAATCTAG -3'

Sequencing Primer
(F):5'- AGTGTGTCCAGACTCCTGTGTTATC -3'
(R):5'- TGAGTGTTCCATAAACGTCCACTCAG -3'

Posted On

2016-07-06