Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02751:AU021092'

306284

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU021092

Ensembl Gene

ENSMUSG00000051669

Gene Name

expressed sequence AU021092

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

5029687-5040163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5030483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 304 (V304L)

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: V304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: V304L

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Ago2	G	A	15: 73,002,746 (GRCm39)	A162V	possibly damaging	Het
Aox4	G	T	1: 58,298,211 (GRCm39)	R1059I	probably damaging	Het
Bcs1l	T	G	1: 74,628,775 (GRCm39)	F20V	probably damaging	Het
Braf	T	C	6: 39,637,801 (GRCm39)		probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Ccdc116	T	A	16: 16,959,836 (GRCm39)	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,112,187 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,521,141 (GRCm39)		probably benign	Het
Cpa4	T	A	6: 30,581,739 (GRCm39)	Y229N	probably damaging	Het
Fbp1	A	C	13: 63,022,957 (GRCm39)		probably null	Het
Gimap3	A	T	6: 48,742,172 (GRCm39)	W253R	probably benign	Het
Gm1330	G	A	2: 148,832,393 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,404,093 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,814,482 (GRCm39)	T338A	probably benign	Het
Hmg20b	A	T	10: 81,182,385 (GRCm39)		probably benign	Het
Hnrnpdl	A	G	5: 100,185,833 (GRCm39)	F151L	probably damaging	Het
Klhl30	T	A	1: 91,281,821 (GRCm39)	F141I	probably damaging	Het
Lamc3	T	A	2: 31,810,716 (GRCm39)	F862Y	probably benign	Het
Lap3	T	C	5: 45,662,138 (GRCm39)	C313R	probably damaging	Het
Lrp2	T	C	2: 69,363,806 (GRCm39)	T344A	possibly damaging	Het
Mga	A	G	2: 119,778,251 (GRCm39)	E2023G	possibly damaging	Het
Mical2	A	T	7: 111,931,243 (GRCm39)	K735N	probably benign	Het
Muc15	A	G	2: 110,562,118 (GRCm39)	T185A	probably benign	Het
Or12d17	T	C	17: 37,777,306 (GRCm39)	C70R	probably damaging	Het
Osbp2	T	C	11: 3,813,434 (GRCm39)	K145R	probably benign	Het
Pde1c	T	C	6: 56,158,673 (GRCm39)	T52A	probably damaging	Het
Pidd1	A	G	7: 141,019,076 (GRCm39)	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prep	T	A	10: 44,991,282 (GRCm39)	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,310,014 (GRCm39)		probably null	Het
Pygo1	A	T	9: 72,852,319 (GRCm39)	I169F	probably benign	Het
Rnf10	G	T	5: 115,380,725 (GRCm39)	A716E	probably benign	Het
Rtn4	G	A	11: 29,656,409 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,778,199 (GRCm39)	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,687,961 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,918,110 (GRCm39)	Y364*	probably null	Het
Syt3	A	T	7: 44,035,486 (GRCm39)	D31V	possibly damaging	Het
Tango2	G	T	16: 18,125,857 (GRCm39)	P143H	probably benign	Het
Tas2r104	A	G	6: 131,662,107 (GRCm39)	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,636,447 (GRCm39)	L201F	probably damaging	Het
Vmn1r81	A	T	7: 11,994,374 (GRCm39)	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,508,072 (GRCm39)	T351S	probably benign	Het

Other mutations in AU021092

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5031:AU021092	UTSW	16	5,030,468 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16