Mutagenetix > Incidental Mutation

Incidental Mutation 'R6217:AU021092'

503804

Institutional Source

Beutler Lab

Gene Symbol

AU021092

Ensembl Gene

ENSMUSG00000051669

Gene Name

expressed sequence AU021092

Synonyms

MMRRC Submission

044350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5029687-5040163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5030050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 322 (T322S)

Ref Sequence

ENSEMBL: ENSMUSP00000058860 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050160
AA Change: T322S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: T322S

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

0.0920

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adamts20	T	C	15: 94,236,596 (GRCm39)	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arsk	T	A	13: 76,239,935 (GRCm39)	Q46L	unknown	Het
Asnsd1	A	G	1: 53,387,187 (GRCm39)	F147L	probably benign	Het
Atp5f1a	T	A	18: 77,869,056 (GRCm39)	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,562,530 (GRCm39)		probably null	Het
Bcl7c	A	T	7: 127,307,698 (GRCm39)	M1K	probably null	Het
Cacna1i	T	C	15: 80,273,333 (GRCm39)	V1673A	probably damaging	Het
Ccdc146	A	T	5: 21,522,900 (GRCm39)		probably null	Het
Cdc7	A	G	5: 107,120,660 (GRCm39)	D122G	probably damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,236,361 (GRCm39)	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,748,436 (GRCm39)	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,406,398 (GRCm39)	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,856,971 (GRCm39)		probably null	Het
Dstyk	T	C	1: 132,387,677 (GRCm39)	S804P	probably damaging	Het
Ech1	A	G	7: 28,531,261 (GRCm39)	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,666,768 (GRCm39)		probably null	Het
Fancg	A	C	4: 43,010,084 (GRCm39)	V5G	probably benign	Het
Fbxo11	A	G	17: 88,316,332 (GRCm39)	V394A	probably benign	Het
Fcmr	C	T	1: 130,806,060 (GRCm39)	R339W	probably damaging	Het
Fhip2b	T	C	14: 70,829,198 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Gab1	A	G	8: 81,518,237 (GRCm39)	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,799,968 (GRCm39)	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,267,559 (GRCm39)	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,736,843 (GRCm39)	T198S	probably benign	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,284,417 (GRCm39)	V342M	probably damaging	Het
Muc16	A	T	9: 18,566,742 (GRCm39)	S1926T	unknown	Het
Ntn1	C	A	11: 68,104,158 (GRCm39)	V497F	possibly damaging	Het
Or2ag18	A	T	7: 106,405,279 (GRCm39)	L130Q	probably damaging	Het
Or5k17	T	C	16: 58,746,877 (GRCm39)	D19G	probably benign	Het
Or8g22	A	T	9: 38,958,039 (GRCm39)	*270R	probably null	Het
Osmr	T	C	15: 6,853,047 (GRCm39)	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,054 (GRCm39)	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,547,733 (GRCm39)	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,076,045 (GRCm39)		probably null	Het
Prss59	G	A	6: 40,903,019 (GRCm39)	P118S	possibly damaging	Het
Prtg	C	T	9: 72,812,076 (GRCm39)	P899S	probably damaging	Het
Ptprn	A	T	1: 75,224,810 (GRCm39)	S912R	probably damaging	Het
Rex2	A	G	4: 147,141,931 (GRCm39)	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,848,964 (GRCm39)	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,046,677 (GRCm39)	R289H	probably damaging	Het
Slc17a9	A	G	2: 180,379,455 (GRCm39)	D309G	probably benign	Het
Slc4a10	A	G	2: 62,134,295 (GRCm39)	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Syne1	C	T	10: 5,243,761 (GRCm39)	G2801D	probably benign	Het
Tenm3	A	T	8: 48,746,700 (GRCm39)	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,577,730 (GRCm39)	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Ubn1	A	G	16: 4,895,096 (GRCm39)	E714G	probably damaging	Het
Ush2a	T	G	1: 188,475,651 (GRCm39)		probably null	Het
Usp19	G	A	9: 108,377,343 (GRCm39)	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,488,501 (GRCm39)	T633A	probably benign	Het
Vmn2r75	A	T	7: 85,815,375 (GRCm39)		probably benign	Het
Zfyve27	T	C	19: 42,178,016 (GRCm39)	V386A	probably damaging	Het
Zscan20	A	T	4: 128,498,327 (GRCm39)	W24R	probably damaging	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
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
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'- AGAAACACTAAGGGGCCTGC -3'
(R):5'- TTACTTGTAGAGGCAAGAGCAG -3'

Sequencing Primer
(F):5'- ACTAAGGGGCCTGCCAGTC -3'
(R):5'- ATGAGCTTCTTAGTTCTGCACAG -3'

Posted On

2018-02-27