Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Gm5800'

235684

Institutional Source

Beutler Lab

Gene Symbol

Gm5800

Ensembl Gene

ENSMUSG00000068506

Gene Name

predicted gene 5800

Synonyms

MMRRC Submission

040172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51949101-51954589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51951135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 155 (K155E)

Ref Sequence

ENSEMBL: ENSMUSP00000093605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095916]

AlphaFold

Q497L3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095916
AA Change: K155E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093605
Gene: ENSMUSG00000068506
AA Change: K155E

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	90	4.7e-28	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,622,349 (GRCm39)	T606A	probably benign	Het
Adtrp	T	A	13: 41,920,905 (GRCm39)	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,336,797 (GRCm39)		probably null	Het
Arhgef5	A	T	6: 43,251,354 (GRCm39)	M702L	probably benign	Het
Axdnd1	A	G	1: 156,245,879 (GRCm39)	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,389,897 (GRCm39)	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,096 (GRCm39)	D761N	probably benign	Het
Ddx18	A	T	1: 121,486,138 (GRCm39)		probably null	Het
Dipk1a	A	T	5: 108,057,325 (GRCm39)	L411*	probably null	Het
Fam241b	A	T	10: 61,945,745 (GRCm39)	I4N	probably damaging	Het
Hemgn	T	A	4: 46,396,417 (GRCm39)	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,168 (GRCm39)	V543A	probably damaging	Het
Hspa1l	A	G	17: 35,196,299 (GRCm39)	K113E	probably benign	Het
Hspb2	A	G	9: 50,663,015 (GRCm39)	I38T	probably damaging	Het
Htt	A	T	5: 35,034,819 (GRCm39)	E2021D	probably benign	Het
Lrpprc	C	T	17: 85,077,505 (GRCm39)	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,629,753 (GRCm39)	Y700H	probably damaging	Het
Mefv	A	G	16: 3,528,752 (GRCm39)	V593A	probably benign	Het
Mrgprh	C	T	17: 13,095,856 (GRCm39)	T32M	probably benign	Het
Mrpl18	A	G	17: 13,132,655 (GRCm39)		probably null	Het
Muc1	A	G	3: 89,138,903 (GRCm39)	E504G	probably damaging	Het
Ndufa13	G	A	8: 70,347,169 (GRCm39)	A77V	probably damaging	Het
Or8g33	A	G	9: 39,337,654 (GRCm39)	F238L	possibly damaging	Het
Pgbd5	T	A	8: 125,111,363 (GRCm39)		probably null	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phyhip	T	C	14: 70,704,572 (GRCm39)	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,531,360 (GRCm39)	R176W	probably damaging	Het
Prkacb	C	T	3: 146,452,438 (GRCm39)		probably null	Het
Rab19	T	G	6: 39,360,975 (GRCm39)	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,679,130 (GRCm39)	Y234C	probably benign	Het
Slc26a5	T	C	5: 22,018,863 (GRCm39)	T659A	probably damaging	Het
Slc6a2	G	A	8: 93,720,729 (GRCm39)	V449I	probably benign	Het
Stab2	A	G	10: 86,723,726 (GRCm39)	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005 (GRCm39)	T713A	probably damaging	Het
Tmc6	A	T	11: 117,659,932 (GRCm39)	L732Q	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,905 (GRCm39)	K229*	probably null	Het
Xylt1	G	A	7: 117,266,660 (GRCm39)	G893R	probably damaging	Het
Ythdf1	A	T	2: 180,553,907 (GRCm39)	S69T	probably damaging	Het
Zfp114	C	T	7: 23,880,509 (GRCm39)	T285I	probably benign	Het
Zfp458	T	C	13: 67,405,113 (GRCm39)	E439G	probably damaging	Het
Zfp65	G	A	13: 67,858,499 (GRCm39)	T55I	probably damaging	Het
Zmym1	C	T	4: 126,947,996 (GRCm39)		probably null	Het

Other mutations in Gm5800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Gm5800	APN	14	51,951,269 (GRCm39)	missense	possibly damaging	0.96
IGL03325:Gm5800	APN	14	51,951,983 (GRCm39)	missense	probably benign
R0037:Gm5800	UTSW	14	51,953,605 (GRCm39)	splice site	probably benign
R0597:Gm5800	UTSW	14	51,953,461 (GRCm39)	missense	probably benign
R1577:Gm5800	UTSW	14	51,952,016 (GRCm39)	missense	probably benign	0.05
R1834:Gm5800	UTSW	14	51,953,549 (GRCm39)	missense	possibly damaging	0.85
R1934:Gm5800	UTSW	14	51,949,396 (GRCm39)	missense	possibly damaging	0.96
R2180:Gm5800	UTSW	14	51,953,451 (GRCm39)	nonsense	probably null
R4861:Gm5800	UTSW	14	51,953,504 (GRCm39)	missense	probably damaging	0.98
R4861:Gm5800	UTSW	14	51,953,504 (GRCm39)	missense	probably damaging	0.98
R5267:Gm5800	UTSW	14	51,951,294 (GRCm39)	splice site	probably null
R6545:Gm5800	UTSW	14	51,949,419 (GRCm39)	missense	possibly damaging	0.73
R6634:Gm5800	UTSW	14	51,953,595 (GRCm39)	missense	possibly damaging	0.73
R6925:Gm5800	UTSW	14	51,951,157 (GRCm39)	missense	possibly damaging	0.76
R7632:Gm5800	UTSW	14	51,953,905 (GRCm39)	splice site	probably null
R9067:Gm5800	UTSW	14	51,951,995 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTAGAGTGGCCAGCTGTGAG -3'
(R):5'- AAGATGGATGCTGCCTGGAG -3'

Sequencing Primer
(F):5'- AGGATAACTCTACAGAAAGTCTCAG -3'
(R):5'- ATGCTGCCTGGAGTCACC -3'

Posted On

2014-10-01