Mutagenetix > Incidental Mutation

Incidental Mutation 'R4525:Gm17542'

334416

Institutional Source

Beutler Lab

Gene Symbol

Gm17542

Ensembl Gene

ENSMUSG00000091731

Gene Name

predicted gene, 17542

Synonyms

MMRRC Submission

041767-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58549428-58554032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58549435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 31 (D31G)

Ref Sequence

ENSEMBL: ENSMUSP00000127757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169859]

AlphaFold

F6SK43

Predicted Effect

probably null
Transcript: ENSMUST00000169859
AA Change: D31G

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	G	2: 32,464,388 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,049 (GRCm39)	V510A	probably damaging	Het
Aoc1	A	G	6: 48,883,609 (GRCm39)	Y495C	probably damaging	Het
Asap2	G	A	12: 21,279,293 (GRCm39)		probably null	Het
Cd47	T	C	16: 49,688,155 (GRCm39)	V25A	probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Cpne3	G	T	4: 19,523,206 (GRCm39)	P527H	probably damaging	Het
Erbin	T	C	13: 103,993,600 (GRCm39)	I347V	probably benign	Het
Hivep1	T	A	13: 42,309,289 (GRCm39)	C510S	probably benign	Het
Hnrnpk	A	G	13: 58,541,696 (GRCm39)		probably benign	Het
Iqcf4	T	A	9: 106,447,827 (GRCm39)	Q27H	possibly damaging	Het
Kcna4	C	A	2: 107,125,410 (GRCm39)	T48K	possibly damaging	Het
Loxhd1	T	A	18: 77,444,608 (GRCm39)	C336S	probably damaging	Het
Ltbp3	A	G	19: 5,796,387 (GRCm39)	T306A	probably benign	Het
Oplah	G	T	15: 76,189,709 (GRCm39)	L176M	probably damaging	Het
Pon1	T	C	6: 5,177,412 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,966 (GRCm39)	I3932T	probably damaging	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Sipa1	T	A	19: 5,701,985 (GRCm39)	Q947L	probably benign	Het
Slit2	G	T	5: 48,407,215 (GRCm39)	C882F	probably damaging	Het
Speer4a1	A	T	5: 26,244,341 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,034,676 (GRCm39)	D1035G	probably null	Het
Tas2r140	T	C	6: 133,032,207 (GRCm39)	T184A	possibly damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Tmem161b	T	C	13: 84,405,921 (GRCm39)	I50T	probably benign	Het
Tnpo3	T	C	6: 29,561,397 (GRCm39)	N628D	probably benign	Het
Tnrc6a	A	G	7: 122,779,005 (GRCm39)	T102A	probably benign	Het
Vmn2r70	A	T	7: 85,208,787 (GRCm39)	N563K	probably damaging	Het

Other mutations in Gm17542

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4526:Gm17542	UTSW	10	58,549,435 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCTCCAATAGTAGCAGAGTGC -3'
(R):5'- AAGAGTCCTAGGCTGCTCTG -3'

Sequencing Primer
(F):5'- CAGAGTGCTGTGTTGGCTCC -3'
(R):5'- GGTCCCTACCAGAGTCATTAGTTG -3'

Posted On

2015-08-18