Mutagenetix > Incidental Mutation

Incidental Mutation 'R6634:Gm5800'

525411

Institutional Source

Beutler Lab

Gene Symbol

Gm5800

Ensembl Gene

ENSMUSG00000068506

Gene Name

predicted gene 5800

Synonyms

MMRRC Submission

044756-MU

Accession Numbers

Essential gene?

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

Stock #

R6634 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51949101-51954589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51953595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 7 (S7P)

Ref Sequence

ENSEMBL: ENSMUSP00000093605 (fasta)

Gene Model

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

AlphaFold

Q497L3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095916
AA Change: S7P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093605
Gene: ENSMUSG00000068506
AA Change: S7P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,094,127 (GRCm39)		probably null	Het
Alox12b	C	A	11: 69,059,647 (GRCm39)	Y566*	probably null	Het
Chl1	T	A	6: 103,667,220 (GRCm39)	S403R	probably damaging	Het
Cpa5	T	A	6: 30,626,363 (GRCm39)	D241E	probably damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2t4	C	A	7: 26,855,213 (GRCm39)	C121*	probably null	Het
Dkkl1	C	A	7: 44,859,882 (GRCm39)	R56L	possibly damaging	Het
Ebf3	A	G	7: 136,802,889 (GRCm39)	V387A	probably damaging	Het
Efcab3	T	C	11: 104,784,609 (GRCm39)	M2797T	probably benign	Het
Fer1l5	A	G	1: 36,450,466 (GRCm39)	T1212A	probably damaging	Het
Galnt16	T	A	12: 80,565,944 (GRCm39)	M1K	probably null	Het
Gstp1	T	A	19: 4,085,510 (GRCm39)	H199L	probably benign	Het
Herc1	T	C	9: 66,345,026 (GRCm39)	S1940P	probably benign	Het
Igkv8-24	C	T	6: 70,194,365 (GRCm39)	W14*	probably null	Het
Iqcd	C	A	5: 120,738,556 (GRCm39)	Q125K	probably benign	Het
Lpin2	T	A	17: 71,553,413 (GRCm39)	D812E	probably damaging	Het
Ltb4r2	T	A	14: 55,999,962 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,622,376 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,099,890 (GRCm39)	N600I	possibly damaging	Het
Nedd9	T	A	13: 41,465,584 (GRCm39)	K685N	probably damaging	Het
Or10aa3	A	G	1: 173,878,535 (GRCm39)	I199V	probably benign	Het
Otogl	A	C	10: 107,698,165 (GRCm39)	V735G	probably damaging	Het
Pcnx1	T	A	12: 81,964,656 (GRCm39)	Y274*	probably null	Het
Pias1	A	T	9: 62,826,706 (GRCm39)	I252N	probably damaging	Het
Pitpnm3	T	C	11: 71,942,755 (GRCm39)	D844G	probably null	Het
Satb2	G	T	1: 56,884,880 (GRCm39)	S348*	probably null	Het
Sfxn1	T	A	13: 54,247,048 (GRCm39)	V180D	probably damaging	Het
Slc35g3	A	T	11: 69,651,109 (GRCm39)	V314D	probably damaging	Het
Tmem200c	C	A	17: 69,149,101 (GRCm39)	D561E	probably benign	Het
Usp53	T	A	3: 122,757,935 (GRCm39)	Q69L	probably benign	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
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
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'- GGCATCTGGGCTTAACAGGAAG -3'
(R):5'- TAGGAACAGGGACCTAGCTG -3'

Sequencing Primer
(F):5'- GCTTAACAGGAAGGGCCC -3'
(R):5'- CTAGCTGAGGAGACAAGCTTG -3'

Posted On

2018-06-22