Mutagenetix > Incidental Mutation

Incidental Mutation 'R8426:Gm17728'

653493

Institutional Source

Beutler Lab

Gene Symbol

Gm17728

Ensembl Gene

ENSMUSG00000072968

Gene Name

predicted gene, 17728

Synonyms

MMRRC Submission

067820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R8426 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9640892-9641290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9641231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 114 (T114A)

Ref Sequence

ENSEMBL: ENSMUSP00000125941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076982]

AlphaFold

E9Q5K2

Predicted Effect

probably benign
Transcript: ENSMUST00000076982
AA Change: T114A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,155,606 (GRCm39)	H32R	probably benign	Het
Abcb1b	T	C	5: 8,911,632 (GRCm39)		probably null	Het
Aicda	A	T	6: 122,538,150 (GRCm39)	N103Y	probably damaging	Het
Bsn	T	C	9: 108,003,772 (GRCm39)	E211G	probably damaging	Het
Casp9	T	C	4: 141,540,936 (GRCm39)	Y435H	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam5	T	C	7: 17,493,266 (GRCm39)	V763A	possibly damaging	Het
Cxcr6	A	G	9: 123,639,071 (GRCm39)	N31S	probably benign	Het
Elapor1	G	A	3: 108,378,742 (GRCm39)	A352V	probably damaging	Het
Gnao1	A	T	8: 94,622,857 (GRCm39)		probably null	Het
Iffo2	A	T	4: 139,342,291 (GRCm39)	Y451F	probably damaging	Het
Ints4	G	A	7: 97,150,239 (GRCm39)	W258*	probably null	Het
Ipo11	T	C	13: 106,978,678 (GRCm39)	D834G	possibly damaging	Het
Kif5a	T	C	10: 127,067,358 (GRCm39)	D853G	probably damaging	Het
Lama4	A	G	10: 38,979,487 (GRCm39)	E1655G	probably damaging	Het
Lepr	G	A	4: 101,671,841 (GRCm39)	S955N	probably benign	Het
Lrp1b	T	C	2: 41,388,318 (GRCm39)	I550V		Het
Mov10l1	T	A	15: 88,881,608 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,852,294 (GRCm39)	D798E	probably damaging	Het
Myo10	A	G	15: 25,799,576 (GRCm39)	I1380V	probably damaging	Het
Neu2	C	T	1: 87,524,387 (GRCm39)	S124L	probably damaging	Het
Nol6	T	C	4: 41,119,870 (GRCm39)	I543V	probably benign	Het
Nrxn3	G	A	12: 88,762,097 (GRCm39)	R48H	possibly damaging	Het
Ogn	C	T	13: 49,774,567 (GRCm39)	R237C	possibly damaging	Het
Or10aa3	T	C	1: 173,878,146 (GRCm39)	L69P	probably damaging	Het
Or8b46	A	T	9: 38,450,620 (GRCm39)	Y143F	probably damaging	Het
Phf24	C	T	4: 42,933,785 (GRCm39)	Q19*	probably null	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ptch2	G	T	4: 116,965,369 (GRCm39)	S318I	possibly damaging	Het
Sart1	A	G	19: 5,433,769 (GRCm39)	M356T	probably benign	Het
Slit2	A	G	5: 48,382,105 (GRCm39)	N529D	probably benign	Het
Smchd1	A	C	17: 71,755,598 (GRCm39)	D261E	probably damaging	Het
Tcerg1	G	A	18: 42,681,466 (GRCm39)	V538I	possibly damaging	Het
Thada	A	T	17: 84,530,131 (GRCm39)	M1746K	probably benign	Het
Thsd1	A	G	8: 22,733,654 (GRCm39)	I234V	probably benign	Het
Tm9sf4	G	A	2: 153,045,736 (GRCm39)	G536D	probably damaging	Het
Tmprss11c	G	T	5: 86,379,677 (GRCm39)	N410K	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Unc5d	G	T	8: 29,210,016 (GRCm39)	S440Y	probably damaging	Het
Vmn1r44	A	G	6: 89,870,470 (GRCm39)	D72G	probably benign	Het
Vmn1r68	T	C	7: 10,261,382 (GRCm39)	N239D	probably benign	Het
Vmn2r107	T	A	17: 20,577,239 (GRCm39)	H412Q	possibly damaging	Het

Other mutations in Gm17728

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2083:Gm17728	UTSW	17	9,641,121 (GRCm39)	missense	possibly damaging	0.85
R4893:Gm17728	UTSW	17	9,641,063 (GRCm39)	missense	probably benign	0.04
R5635:Gm17728	UTSW	17	9,641,202 (GRCm39)	missense	probably benign	0.09
R6981:Gm17728	UTSW	17	9,640,991 (GRCm39)	missense	probably damaging	0.96
R7172:Gm17728	UTSW	17	9,641,220 (GRCm39)	missense	probably damaging	0.99
R7344:Gm17728	UTSW	17	9,640,955 (GRCm39)	missense	probably damaging	1.00
R8850:Gm17728	UTSW	17	9,641,159 (GRCm39)	missense	probably benign	0.26
R8859:Gm17728	UTSW	17	9,641,027 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTTCATCCGCAAATGGACCC -3'
(R):5'- TTAAGCCTCCAACTTTCTCAAATGG -3'

Sequencing Primer
(F):5'- CGGTAAATACTGGCGACTCC -3'
(R):5'- CCTCCAACTTTCTCAAATGGAATTAC -3'

Posted On

2020-10-20