Mutagenetix > Incidental Mutation

Incidental Mutation 'R4659:AU021092'

352710

Institutional Source

Beutler Lab

Gene Symbol

AU021092

Ensembl Gene

ENSMUSG00000051669

Gene Name

expressed sequence AU021092

Synonyms

MMRRC Submission

041919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4659 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5029687-5040163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 5030011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 335 (A335P)

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: A335P

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

SMART Domains

Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: A335P

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

0.1512

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (74/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,618,321 (GRCm39)		probably null	Het
Ankrd22	C	T	19: 34,102,968 (GRCm39)	V118I	probably damaging	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arap2	T	C	5: 62,811,469 (GRCm39)	N1114S	possibly damaging	Het
Carhsp1	T	C	16: 8,482,129 (GRCm39)	T51A	probably benign	Het
Cdc42bpb	T	C	12: 111,306,325 (GRCm39)	D152G	probably damaging	Het
Cep70	T	A	9: 99,178,394 (GRCm39)	D497E	possibly damaging	Het
Chrm5	T	C	2: 112,310,102 (GRCm39)	N338S	probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clhc1	T	A	11: 29,528,229 (GRCm39)	*586K	probably null	Het
Cplane1	G	T	15: 8,245,760 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,384,085 (GRCm39)		probably benign	Het
Dync1h1	T	C	12: 110,595,201 (GRCm39)	F1371S	possibly damaging	Het
Eif6	A	G	2: 155,668,101 (GRCm39)	I46T	probably damaging	Het
Esco2	G	A	14: 66,064,035 (GRCm39)	T383M	possibly damaging	Het
Exoc8	T	C	8: 125,624,271 (GRCm39)	D32G	probably damaging	Het
Fam149b	G	T	14: 20,417,941 (GRCm39)	S216I	probably benign	Het
Fam219a	T	C	4: 41,521,645 (GRCm39)	D87G	probably null	Het
Fbxw26	A	T	9: 109,573,939 (GRCm39)	V71D	probably damaging	Het
Gabra4	T	A	5: 71,798,487 (GRCm39)	K164M	probably damaging	Het
Gm57858	T	C	3: 36,080,103 (GRCm39)	D218G	possibly damaging	Het
Gm8603	G	A	17: 13,737,290 (GRCm39)		noncoding transcript	Het
Gnmt	A	G	17: 47,036,892 (GRCm39)	F239S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcnj1	A	T	9: 32,305,444 (GRCm39)	D2V	probably benign	Het
Limch1	C	T	5: 67,184,900 (GRCm39)	R797C	probably damaging	Het
Lrrc9	T	A	12: 72,517,038 (GRCm39)	F597I	probably damaging	Het
Lrriq3	T	A	3: 154,835,090 (GRCm39)	I275N	possibly damaging	Het
Mcoln1	T	A	8: 3,560,840 (GRCm39)	S387R	probably damaging	Het
Mgst3	T	A	1: 167,204,848 (GRCm39)	Q58L	probably damaging	Het
Mical1	G	A	10: 41,362,932 (GRCm39)		probably benign	Het
Mmp3	C	A	9: 7,453,673 (GRCm39)	D431E	probably benign	Het
Mx1	T	C	16: 97,256,439 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,734,673 (GRCm39)	L607P	probably damaging	Het
Myt1l	A	G	12: 29,899,456 (GRCm39)	N153D	probably damaging	Het
Nfu1	A	T	6: 86,996,408 (GRCm39)	T120S	probably damaging	Het
Nhlrc2	T	C	19: 56,564,699 (GRCm39)	V341A	possibly damaging	Het
Notch1	T	C	2: 26,360,901 (GRCm39)	E1148G	probably damaging	Het
Nqo1	C	T	8: 108,117,676 (GRCm39)		probably null	Het
Nwd1	T	A	8: 73,421,949 (GRCm39)	D998E	probably benign	Het
Or8k18	G	A	2: 86,085,357 (GRCm39)	Q227*	probably null	Het
Oxct2a	T	C	4: 123,216,473 (GRCm39)	I303V	probably benign	Het
Parp10	A	T	15: 76,127,185 (GRCm39)	D58E	probably damaging	Het
Pcdha6	T	A	18: 37,102,292 (GRCm39)	V495E	probably damaging	Het
Pitrm1	T	A	13: 6,603,218 (GRCm39)	S88R	probably benign	Het
Pxdn	T	C	12: 30,044,552 (GRCm39)	V510A	probably benign	Het
Ranbp17	T	A	11: 33,216,288 (GRCm39)	D820V	probably damaging	Het
Sec24c	G	T	14: 20,733,212 (GRCm39)	G180C	probably damaging	Het
Serpina3n	T	C	12: 104,379,752 (GRCm39)	S382P	probably benign	Het
Sestd1	A	T	2: 77,042,843 (GRCm39)	M237K	probably null	Het
Sf3a2	T	C	10: 80,639,418 (GRCm39)	I136T	probably damaging	Het
Sh3tc2	A	G	18: 62,107,580 (GRCm39)	Y197C	probably benign	Het
Speer4b	T	C	5: 27,702,893 (GRCm39)	K204E	probably benign	Het
Speer4f1	A	C	5: 17,681,221 (GRCm39)	E33A	possibly damaging	Het
Sspo	T	A	6: 48,461,147 (GRCm39)	D3529E	probably damaging	Het
Stard13	T	C	5: 150,986,253 (GRCm39)	D419G	probably benign	Het
Tg	A	G	15: 66,545,769 (GRCm39)	S164G	possibly damaging	Het
Thap12	A	G	7: 98,359,298 (GRCm39)		probably benign	Het
Thsd1	C	A	8: 22,749,314 (GRCm39)	Y667*	probably null	Het
Tnks	A	C	8: 35,316,465 (GRCm39)	Y885D	possibly damaging	Het
Ttll3	A	G	6: 113,391,102 (GRCm39)	I896V	probably benign	Het
Txnip	T	G	3: 96,466,743 (GRCm39)	F190C	probably damaging	Het
Urb1	T	C	16: 90,573,017 (GRCm39)	D1005G	probably damaging	Het
Usp3	T	C	9: 66,434,352 (GRCm39)		probably null	Het
Usp54	G	T	14: 20,615,060 (GRCm39)	Q794K	probably damaging	Het
Xrn2	A	G	2: 146,903,394 (GRCm39)	Q798R	probably benign	Het
Zfp189	A	G	4: 49,530,342 (GRCm39)	I482V	probably benign	Het
Zfp28	A	G	7: 6,396,506 (GRCm39)	N314D	probably benign	Het
Zmym4	A	G	4: 126,842,221 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CGATGGGGATATAGCTGGTC -3'
(R):5'- AACCTGGAAGATTGGCTGGG -3'

Sequencing Primer
(F):5'- GGGATATAGCTGGTCACTTTCCTC -3'
(R):5'- GGGGTGGGTGGAGACTCATATAG -3'

Posted On

2015-10-08