Mutagenetix > Incidental Mutation

Incidental Mutation 'R2180:Gm5800'

237153

Institutional Source

Beutler Lab

Gene Symbol

Gm5800

Ensembl Gene

ENSMUSG00000068506

Gene Name

predicted gene 5800

Synonyms

MMRRC Submission

040182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51949101-51954589 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 51953451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 55 (K55*)

Ref Sequence

ENSEMBL: ENSMUSP00000093605 (fasta)

Gene Model

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

AlphaFold

Q497L3

Predicted Effect

probably null
Transcript: ENSMUST00000095916
AA Change: K55*

SMART Domains

Protein: ENSMUSP00000093605
Gene: ENSMUSG00000068506
AA Change: K55*

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	C	16: 85,684,812 (GRCm39)	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Anxa9	T	C	3: 95,213,735 (GRCm39)		probably null	Het
Aox4	A	T	1: 58,252,226 (GRCm39)	T34S	probably benign	Het
Asic1	G	T	15: 99,569,846 (GRCm39)	V56F	probably benign	Het
Atpaf1	T	C	4: 115,645,557 (GRCm39)	M1T	probably null	Het
Axin1	A	G	17: 26,362,309 (GRCm39)	T218A	probably benign	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,197,913 (GRCm39)		probably benign	Het
Birc6	T	C	17: 74,919,146 (GRCm39)	I1988T	probably benign	Het
Btbd7	A	T	12: 102,752,156 (GRCm39)	D869E	probably damaging	Het
Caln1	T	C	5: 130,868,249 (GRCm39)	*220Q	probably null	Het
Ccdc150	G	A	1: 54,311,706 (GRCm39)		probably null	Het
Ccnt1	A	T	15: 98,441,481 (GRCm39)	S596T	possibly damaging	Het
Cd44	C	T	2: 102,658,955 (GRCm39)	G640E	possibly damaging	Het
Cep192	A	G	18: 67,957,813 (GRCm39)	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,136,819 (GRCm39)		probably null	Het
Dhx29	T	C	13: 113,099,406 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,059,621 (GRCm39)	F4407S	probably benign	Het
Enah	A	T	1: 181,746,024 (GRCm39)	M419K	probably damaging	Het
Fancd2	A	T	6: 113,551,598 (GRCm39)	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,344,642 (GRCm39)	G525D	probably damaging	Het
Gpr149	A	G	3: 62,511,489 (GRCm39)	L170P	probably damaging	Het
Grik4	A	T	9: 42,453,301 (GRCm39)	Y695N	probably benign	Het
Gsg1	A	T	6: 135,217,143 (GRCm39)	V228D	probably damaging	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Helz2	A	T	2: 180,875,525 (GRCm39)	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,299,316 (GRCm39)	K669M	probably benign	Het
Itga2	T	C	13: 114,985,917 (GRCm39)	N953D	possibly damaging	Het
Ldhd	T	C	8: 112,356,018 (GRCm39)	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,221,329 (GRCm39)	D262G	probably damaging	Het
Mapkapk5	T	C	5: 121,673,927 (GRCm39)		probably null	Het
Msantd5l	C	A	11: 51,145,437 (GRCm39)	W50L	probably damaging	Het
Niban1	A	T	1: 151,593,829 (GRCm39)	H838L	probably benign	Het
Numa1	T	C	7: 101,649,197 (GRCm39)	I976T	probably benign	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or2a12	C	T	6: 42,904,459 (GRCm39)	T98I	probably benign	Het
Or4f14b	A	G	2: 111,775,348 (GRCm39)	V151A	probably benign	Het
Or52e4	T	C	7: 104,706,092 (GRCm39)	I213T	probably benign	Het
Patj	G	A	4: 98,411,739 (GRCm39)		probably null	Het
Pfas	T	C	11: 68,883,013 (GRCm39)	D757G	possibly damaging	Het
Pom121l2	A	G	13: 22,166,145 (GRCm39)	N139D	probably benign	Het
Ppp2r3d	A	T	9: 101,004,214 (GRCm39)	Y994*	probably null	Het
Ppp6c	T	C	2: 39,087,525 (GRCm39)	D227G	probably benign	Het
Ptpn13	T	G	5: 103,717,424 (GRCm39)	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,604,867 (GRCm39)	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,283,972 (GRCm39)	K669E	probably benign	Het
Rbl2	T	C	8: 91,816,683 (GRCm39)	S348P	possibly damaging	Het
Rptor	T	A	11: 119,615,970 (GRCm39)	N161K	probably damaging	Het
Satb1	C	T	17: 52,110,524 (GRCm39)	A192T	probably damaging	Het
Scn5a	A	G	9: 119,345,117 (GRCm39)	V1083A	probably benign	Het
Sec14l2	C	T	11: 4,058,964 (GRCm39)	A194T	probably damaging	Het
Sema4b	A	G	7: 79,862,583 (GRCm39)	N53S	probably benign	Het
Sin3b	T	A	8: 73,479,923 (GRCm39)	Y876*	probably null	Het
Smchd1	C	A	17: 71,770,794 (GRCm39)	M129I	probably benign	Het
Spmip6	T	A	4: 41,507,170 (GRCm39)	M209L	probably benign	Het
Tmc1	T	C	19: 20,801,448 (GRCm39)	Y484C	probably damaging	Het
Utp20	A	G	10: 88,656,801 (GRCm39)	S135P	probably damaging	Het
Zfp266	A	T	9: 20,410,975 (GRCm39)	C401S	probably damaging	Het
Zfp738	G	A	13: 67,819,313 (GRCm39)	T226I	probably damaging	Het
Zfp871	G	A	17: 32,994,275 (GRCm39)	T300M	probably damaging	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
R2169:Gm5800	UTSW	14	51,951,135 (GRCm39)	missense	possibly damaging	0.53
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'- GCATCAAAATTCCTGTGACCCC -3'
(R):5'- TGTGACAAAGCTCAGTTTCTGC -3'

Sequencing Primer
(F):5'- ATCTCACTCCTATCTGAACTTCAAG -3'
(R):5'- TGCCCTATTTTCTCTACAAGTTAAC -3'

Posted On

2014-10-02