Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:AY358078'

353157

Institutional Source

Beutler Lab

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

MMRRC Submission

040784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3852 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52037503-52063816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52043010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 233 (T233A)

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

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

AlphaFold

Q6UY53

Predicted Effect

unknown
Transcript: ENSMUST00000053821
AA Change: T233A

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: T233A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,379,189 (GRCm39)	V685A	probably damaging	Het
Abhd4	T	C	14: 54,502,824 (GRCm39)	Y44H	probably damaging	Het
AI429214	A	G	8: 37,461,596 (GRCm39)	D248G	probably damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Ccdc34	A	G	2: 109,862,773 (GRCm39)	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,431,070 (GRCm39)	E253G	probably benign	Het
Dnah6	A	G	6: 73,104,910 (GRCm39)	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,413,653 (GRCm39)	Y186*	probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Dusp7	T	A	9: 106,251,092 (GRCm39)	S406T	probably benign	Het
Gga3	T	A	11: 115,478,368 (GRCm39)	T475S	probably benign	Het
Gm10271	T	A	10: 116,792,779 (GRCm39)	K36*	probably null	Het
Gm572	G	A	4: 148,753,329 (GRCm39)	E325K	possibly damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
Igf1	A	T	10: 87,751,181 (GRCm39)	K126*	probably null	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Klhl1	A	T	14: 96,517,641 (GRCm39)	M345K	probably benign	Het
Lrp2	A	G	2: 69,367,909 (GRCm39)	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,151,972 (GRCm39)	T757M	probably benign	Het
Mios	T	A	6: 8,216,453 (GRCm39)	I459K	probably benign	Het
Mrps11	T	C	7: 78,440,393 (GRCm39)	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,393,759 (GRCm39)	S68T	probably benign	Het
Mstn	C	T	1: 53,101,130 (GRCm39)	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,712 (GRCm39)	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452 (GRCm39)	S914P	probably damaging	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or51f1e	T	C	7: 102,747,391 (GRCm39)	S148P	probably damaging	Het
Or52b4	C	A	7: 102,184,487 (GRCm39)	H178N	probably benign	Het
Pcdh17	C	T	14: 84,684,699 (GRCm39)	Q389*	probably null	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Prr14l	T	C	5: 32,987,689 (GRCm39)	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424 (GRCm39)	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,416,641 (GRCm39)	M534K	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Tas2r104	A	T	6: 131,661,888 (GRCm39)	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Trim43c	T	A	9: 88,722,454 (GRCm39)	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,199,758 (GRCm39)	I411K	possibly damaging	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,785,368 (GRCm39)	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,548,026 (GRCm39)	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,997 (GRCm39)	I217T	probably damaging	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
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
R6988:AY358078	UTSW	14	52,063,644 (GRCm39)	missense	probably damaging	0.99
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'- AGTACTTGGAGGAGTTACAGGC -3'
(R):5'- CACAGAAAGCCTTGTAGATGATACC -3'

Sequencing Primer
(F):5'- TGGAAGCTAGCTGGGAATCACC -3'
(R):5'- TACCCTAAATGAACACTTGAAGGAG -3'

Posted On

2015-10-16