Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:AY358078'

543106

Institutional Source

Beutler Lab

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51800046-51826359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51826187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 430 (E430G)

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053821]

AlphaFold

Q6UY53

Predicted Effect

probably damaging
Transcript: ENSMUST00000053821
AA Change: E430G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: E430G

Domain	Start	End	E-Value	Type
Pfam:Takusan	91	171	5.5e-26	PFAM
coiled coil region	187	220	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:AY358078	APN	14	51805709	splice site	probably benign
IGL02053:AY358078	APN	14	51805552	missense	unknown
IGL02057:AY358078	APN	14	51820305	missense	unknown
IGL02498:AY358078	APN	14	51803487	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	51805698	missense	unknown
R0140:AY358078	UTSW	14	51825942	missense	probably benign	0.12
R0466:AY358078	UTSW	14	51805632	missense	unknown
R0496:AY358078	UTSW	14	51803532	missense	unknown
R1546:AY358078	UTSW	14	51820419	splice site	probably null
R1793:AY358078	UTSW	14	51804594	missense	unknown
R1867:AY358078	UTSW	14	51800047	start codon destroyed	probably null	0.01
R1993:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R1994:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	51825988	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	51804690	missense	unknown
R2441:AY358078	UTSW	14	51800089	missense	probably benign	0.00
R3851:AY358078	UTSW	14	51805553	missense	unknown
R3852:AY358078	UTSW	14	51805553	missense	unknown
R4600:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	51802651	missense	unknown
R5096:AY358078	UTSW	14	51826118	missense	probably benign	0.19
R5143:AY358078	UTSW	14	51802549	missense	unknown
R5609:AY358078	UTSW	14	51804608	missense	unknown
R5651:AY358078	UTSW	14	51822160	missense	unknown
R6345:AY358078	UTSW	14	51826292	missense	probably damaging	1.00
R7340:AY358078	UTSW	14	51826259	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	51822178	missense	unknown
R8684:AY358078	UTSW	14	51822140	nonsense	probably null
RF002:AY358078	UTSW	14	51805593	nonsense	probably null
RF017:AY358078	UTSW	14	51805593	nonsense	probably null
RF025:AY358078	UTSW	14	51805589	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAACGTTTGAATCCACCCGG -3'
(R):5'- CCCCAGCTCATTTGAGTTAAAG -3'

Sequencing Primer
(F):5'- AGACCAGTGACATATTTGGGTCCC -3'
(R):5'- CCCAGCTCATTTGAGTTAAAGGAAAC -3'

Posted On

2018-11-28