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: 0.059) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52037503-52063816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52063644 bp (GRCm39)

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: 137,181,890 (GRCm39)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,323,056 (GRCm39)	V31I	possibly damaging	Het
Aadacl4fm4	A	G	4: 144,412,895 (GRCm39)	F15S	probably benign	Het
Adgre1	C	T	17: 57,715,445 (GRCm39)	S255F	probably benign	Het
Aff4	T	G	11: 53,289,064 (GRCm39)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,283,757 (GRCm39)		probably benign	Het
Ankrd31	T	A	13: 97,014,757 (GRCm39)	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,564,908 (GRCm39)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,616,348 (GRCm39)	V332I	probably benign	Het
B4gat1	T	A	19: 5,090,462 (GRCm39)	I395N	probably benign	Het
Bub1b	T	A	2: 118,467,311 (GRCm39)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,394,868 (GRCm39)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm39)	I87N	probably damaging	Het
Ces2g	G	C	8: 105,690,540 (GRCm39)	G107A	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Col2a1	T	C	15: 97,902,335 (GRCm39)	T14A	unknown	Het
Dnah7a	T	C	1: 53,621,784 (GRCm39)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,705,373 (GRCm39)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,862,249 (GRCm39)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,363,417 (GRCm39)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,697,886 (GRCm39)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,597,539 (GRCm39)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,078,680 (GRCm39)		probably benign	Het
Fgfr1op2	T	C	6: 146,491,463 (GRCm39)	F109L	probably damaging	Het
Fv1	T	C	4: 147,953,728 (GRCm39)	F98S	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,484 (GRCm39)	K107E	probably benign	Het
Hspg2	A	T	4: 137,256,201 (GRCm39)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,766,383 (GRCm39)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Mnt	C	A	11: 74,733,635 (GRCm39)		probably benign	Het
Mrpl15	T	C	1: 4,852,883 (GRCm39)	T112A	probably benign	Het
Ncdn	T	C	4: 126,640,982 (GRCm39)	D506G	probably benign	Het
Ogdh	C	T	11: 6,263,806 (GRCm39)	R81*	probably null	Het
Or6c2	T	A	10: 129,362,542 (GRCm39)	S149T	probably benign	Het
Or6c217	G	C	10: 129,738,278 (GRCm39)	F100L	probably damaging	Het
Pole	G	T	5: 110,477,449 (GRCm39)	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,000,577 (GRCm39)		probably benign	Het
Rabep1	A	G	11: 70,825,363 (GRCm39)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 92,033,754 (GRCm39)	Y1151F	probably benign	Het
Rrad	A	G	8: 105,357,268 (GRCm39)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,221,553 (GRCm39)	R118*	probably null	Het
Slc27a3	T	C	3: 90,293,597 (GRCm39)	N596S	probably benign	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Spata31h1	T	C	10: 82,127,733 (GRCm39)	D1759G	possibly damaging	Het
Supt20	T	C	3: 54,606,018 (GRCm39)	S35P	probably damaging	Het
Syde2	G	T	3: 145,725,564 (GRCm39)	R885L	probably benign	Het
Synm	G	A	7: 67,383,406 (GRCm39)	L1419F	probably damaging	Het
Tekt2	A	G	4: 126,217,236 (GRCm39)	F221L	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,586,941 (GRCm39)	I90T	possibly damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trib2	A	G	12: 15,865,339 (GRCm39)	S79P	probably damaging	Het
Usp32	T	C	11: 84,900,969 (GRCm39)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,684,272 (GRCm39)	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,510 (GRCm39)	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm39)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	probably benign	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:AY358078	APN	14	52,043,166 (GRCm39)	splice site	probably benign
IGL02053:AY358078	APN	14	52,043,009 (GRCm39)	missense	unknown
IGL02057:AY358078	APN	14	52,057,762 (GRCm39)	missense	unknown
IGL02498:AY358078	APN	14	52,040,944 (GRCm39)	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	52,043,155 (GRCm39)	missense	unknown
R0140:AY358078	UTSW	14	52,063,399 (GRCm39)	missense	probably benign	0.12
R0466:AY358078	UTSW	14	52,043,089 (GRCm39)	missense	unknown
R0496:AY358078	UTSW	14	52,040,989 (GRCm39)	missense	unknown
R1546:AY358078	UTSW	14	52,057,876 (GRCm39)	splice site	probably null
R1793:AY358078	UTSW	14	52,042,051 (GRCm39)	missense	unknown
R1867:AY358078	UTSW	14	52,037,504 (GRCm39)	start codon destroyed	probably null	0.01
R1993:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1994:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	52,063,445 (GRCm39)	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	52,042,147 (GRCm39)	missense	unknown
R2441:AY358078	UTSW	14	52,037,546 (GRCm39)	missense	probably benign	0.00
R3851:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R3852:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R4600:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	52,040,108 (GRCm39)	missense	unknown
R5096:AY358078	UTSW	14	52,063,575 (GRCm39)	missense	probably benign	0.19
R5143:AY358078	UTSW	14	52,040,006 (GRCm39)	missense	unknown
R5609:AY358078	UTSW	14	52,042,065 (GRCm39)	missense	unknown
R5651:AY358078	UTSW	14	52,059,617 (GRCm39)	missense	unknown
R6345:AY358078	UTSW	14	52,063,749 (GRCm39)	missense	probably damaging	1.00
R7340:AY358078	UTSW	14	52,063,716 (GRCm39)	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	52,059,635 (GRCm39)	missense	unknown
R8684:AY358078	UTSW	14	52,059,597 (GRCm39)	nonsense	probably null
RF002:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null
RF017:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null
RF025:AY358078	UTSW	14	52,043,046 (GRCm39)	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