Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:AU021092'

391714

Institutional Source

Beutler Lab

Gene Symbol

AU021092

Ensembl Gene

ENSMUSG00000051669

Gene Name

expressed sequence AU021092

Synonyms

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5029687-5040163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5030468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 309 (K309E)

Ref Sequence

ENSEMBL: ENSMUSP00000058860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050160]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050160
AA Change: K309E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: K309E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF4735	56	334	2.4e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183396

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,678 (GRCm39)	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631 (GRCm39)	K231R	probably damaging	Het
Ank1	C	T	8: 23,589,696 (GRCm39)	P599L	probably damaging	Het
Arhgef19	A	G	4: 140,978,121 (GRCm39)	E580G	probably damaging	Het
Atr	A	G	9: 95,747,755 (GRCm39)	K346E	probably damaging	Het
Baz2b	T	C	2: 59,743,151 (GRCm39)	R1607G	probably benign	Het
Cct8	C	T	16: 87,284,426 (GRCm39)	V254M	probably damaging	Het
Cdca2	T	A	14: 67,950,602 (GRCm39)	I110F	probably damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,463,661 (GRCm39)	I105V	probably benign	Het
Dock1	A	G	7: 134,753,975 (GRCm39)	D1584G	probably benign	Het
Epg5	G	A	18: 78,072,163 (GRCm39)	V2392I	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsap	G	A	5: 21,447,824 (GRCm39)	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,577,004 (GRCm39)	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,464,008 (GRCm39)	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,530,017 (GRCm39)	R36*	probably null	Het
Ints2	G	A	11: 86,147,026 (GRCm39)	P40L	probably damaging	Het
Irs1	A	T	1: 82,264,688 (GRCm39)	L1176*	probably null	Het
Klhl29	C	T	12: 5,141,334 (GRCm39)	R550Q	probably benign	Het
Kyat1	A	G	2: 30,078,102 (GRCm39)	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,584,822 (GRCm39)	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,029,852 (GRCm39)	S919P	unknown	Het
Mettl16	A	T	11: 74,693,825 (GRCm39)	I279F	probably benign	Het
Mmut	T	C	17: 41,249,718 (GRCm39)	F231S	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,985 (GRCm39)	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mvp	A	C	7: 126,592,788 (GRCm39)	Y374*	probably null	Het
Nabp2	G	A	10: 128,245,497 (GRCm39)		probably benign	Het
Nos1	C	T	5: 118,017,378 (GRCm39)	P247L	probably benign	Het
Or10ag53	C	A	2: 87,082,426 (GRCm39)	F48L	probably benign	Het
Or9g4b	T	A	2: 85,616,062 (GRCm39)	L69*	probably null	Het
Pik3cb	C	T	9: 98,953,461 (GRCm39)	D441N	probably damaging	Het
Qrich1	C	T	9: 108,418,935 (GRCm39)	P464S	possibly damaging	Het
Rab17	A	T	1: 90,887,860 (GRCm39)		probably null	Het
Relch	A	G	1: 105,592,239 (GRCm39)	N136S	probably damaging	Het
Rspo3	A	T	10: 29,382,443 (GRCm39)	L77H	probably damaging	Het
Spn	G	T	7: 126,736,402 (GRCm39)	T35K	probably benign	Het
Sult1d1	T	A	5: 87,707,703 (GRCm39)	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 55,999,627 (GRCm39)	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tram1l1	T	A	3: 124,115,293 (GRCm39)	L151*	probably null	Het
Trappc12	T	A	12: 28,742,512 (GRCm39)	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,991,056 (GRCm39)	T31P	probably damaging	Het
Trpm8	A	G	1: 88,275,910 (GRCm39)	T503A	probably benign	Het
Virma	T	A	4: 11,542,116 (GRCm39)	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,996,943 (GRCm39)	K192*	probably null	Het
Zfp521	T	A	18: 13,977,330 (GRCm39)	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,320,397 (GRCm39)	Q205L	probably benign	Het

Other mutations in AU021092

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:AU021092	APN	16	5,030,483 (GRCm39)	missense	probably damaging	1.00
PIT4466001:AU021092	UTSW	16	5,038,253 (GRCm39)	missense	probably damaging	1.00
R0268:AU021092	UTSW	16	5,040,031 (GRCm39)	missense	possibly damaging	0.71
R0344:AU021092	UTSW	16	5,040,031 (GRCm39)	missense	possibly damaging	0.71
R0346:AU021092	UTSW	16	5,034,718 (GRCm39)	missense	possibly damaging	0.93
R0525:AU021092	UTSW	16	5,035,725 (GRCm39)	missense	possibly damaging	0.74
R3804:AU021092	UTSW	16	5,034,626 (GRCm39)	missense	possibly damaging	0.58
R4659:AU021092	UTSW	16	5,030,011 (GRCm39)	missense	probably damaging	1.00
R4701:AU021092	UTSW	16	5,030,057 (GRCm39)	missense	probably benign	0.13
R5891:AU021092	UTSW	16	5,029,995 (GRCm39)	missense	probably benign	0.00
R6175:AU021092	UTSW	16	5,038,312 (GRCm39)	splice site	probably null
R6217:AU021092	UTSW	16	5,030,050 (GRCm39)	missense	possibly damaging	0.69
R6579:AU021092	UTSW	16	5,040,020 (GRCm39)	missense	probably damaging	1.00
R6957:AU021092	UTSW	16	5,030,017 (GRCm39)	missense	probably benign	0.03
R8414:AU021092	UTSW	16	5,034,649 (GRCm39)	missense	probably damaging	1.00
R8880:AU021092	UTSW	16	5,032,585 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTACAAGTAAGTGGGCTCAC -3'
(R):5'- ACAAATGTGGCCCTGAGGTG -3'

Sequencing Primer
(F):5'- TCACCAGTGGCTCAGGC -3'
(R):5'- ATCTGCAGCTAGGCACAGCAG -3'

Posted On

2016-06-06