Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:Gm17689'

396528

Institutional Source

Beutler Lab

Gene Symbol

Gm17689

Ensembl Gene

ENSMUSG00000091248

Gene Name

predicted gene, 17689

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36581278-36582635 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36581904 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 41 (N41Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126891 (fasta)

Predicted Effect

probably benign
Transcript: ENSMUST00000170030
AA Change: N41Y

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,198		probably null	Het
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Crocc	T	A	4: 141,041,039	T414S	probably benign	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,808,901		probably benign	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,726,413	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	probably damaging	Het

Other mutations in Gm17689

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Gm17689	APN	9	36581363	missense	probably benign	0.00
IGL01693:Gm17689	APN	9	36581366	missense	probably benign	0.31
IGL02268:Gm17689	APN	9	36581870	missense	possibly damaging	0.71
IGL03191:Gm17689	APN	9	36581402	missense	probably benign	0.00
PIT4354001:Gm17689	UTSW	9	36581301	missense	possibly damaging	0.71
R0401:Gm17689	UTSW	9	36582628	missense	unknown
R0743:Gm17689	UTSW	9	36581301	missense	probably benign	0.03
R1483:Gm17689	UTSW	9	36581324	missense	probably benign	0.00
R1701:Gm17689	UTSW	9	36581818	critical splice donor site	probably benign
R2258:Gm17689	UTSW	9	36581865	missense	probably benign	0.03
R3764:Gm17689	UTSW	9	36581818	critical splice donor site	probably null
R6783:Gm17689	UTSW	9	36581335	splice site	probably null
R7013:Gm17689	UTSW	9	36582558	missense	unknown
R7014:Gm17689	UTSW	9	36582558	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAGCCAATACCAGGGGAAG -3'
(R):5'- CTCTTTCCAGAGGCCTGCTG -3'

Sequencing Primer
(F):5'- TACCAGGGGAAGGGAGCCC -3'
(R):5'- TGGGGTCAGCAAAACATACAAC -3'

Posted On

2016-06-21