Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:AI504432'

212460

Institutional Source

Beutler Lab

Gene Symbol

AI504432

Ensembl Gene

ENSMUSG00000056145

Gene Name

expressed sequence AI504432

Synonyms

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106946820-106961638 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 106956152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070085

SMART Domains

Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145

Domain	Start	End	E-Value	Type
low complexity region	79	99	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182414

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,562 (GRCm39)	Y543N	probably damaging	Het
Adgrb3	C	A	1: 25,150,772 (GRCm39)		probably null	Het
Cd82	T	C	2: 93,264,226 (GRCm39)	N39S	probably benign	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Cyp2c66	T	A	19: 39,159,402 (GRCm39)	C284*	probably null	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
Gm5600	T	A	7: 113,307,010 (GRCm39)		noncoding transcript	Het
Hephl1	A	T	9: 14,997,471 (GRCm39)	D398E	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Mtrr	A	T	13: 68,723,449 (GRCm39)	F154L	probably benign	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nelfe	A	G	17: 35,072,962 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Nos1	T	C	5: 118,048,153 (GRCm39)	S653P	probably damaging	Het
Or5p76	A	G	7: 108,122,420 (GRCm39)	S246P	probably damaging	Het
Or8b101	A	T	9: 38,020,390 (GRCm39)	Y131F	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Ralgps1	A	G	2: 33,033,401 (GRCm39)	S393P	probably damaging	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Slc4a4	G	A	5: 89,186,437 (GRCm39)	D173N	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Srgap3	A	G	6: 112,806,473 (GRCm39)	Y63H	probably damaging	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Ttn	C	T	2: 76,710,548 (GRCm39)		probably benign	Het

Other mutations in AI504432

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5771:AI504432	UTSW	3	106,956,299 (GRCm39)	intron	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- GTGTAGCAAGCACCTCACTAAGGAC -3'
(R):5'- CTGTGACACTGATGATTGCTTTTGGAC -3'

Sequencing Primer
(F):5'- ACTTGTCACATGACCCTGAGG -3'
(R):5'- GAAGAGTACCCTCCAGCTTTGAG -3'

Posted On

2014-07-03