Mutagenetix > Incidental Mutation

Incidental Mutation 'R8473:Gm6882'

657120

Institutional Source

Beutler Lab

Gene Symbol

Gm6882

Ensembl Gene

ENSMUSG00000109516

Gene Name

predicted gene 6882

Synonyms

MMRRC Submission

067917-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8473 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21160925-21161866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21161440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 143 (Y143N)

Ref Sequence

ENSEMBL: ENSMUSP00000146341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177741] [ENSMUST00000207192]

AlphaFold

J3KMT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000177741
AA Change: Y143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136005
Gene: ENSMUSG00000109516
AA Change: Y143N

Domain	Start	End	E-Value	Type
internal_repeat_1	1	14	2.23e-5	PROSPERO
internal_repeat_1	8	21	2.23e-5	PROSPERO
S_TKc	34	282	2.61e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207192
AA Change: Y143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,513 (GRCm39)	D30G	unknown	Het
Acad12	T	C	5: 121,745,538 (GRCm39)	D251G	probably damaging	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Atg13	A	T	2: 91,518,993 (GRCm39)	L151M	probably damaging	Het
Atp5f1a	T	C	18: 77,867,625 (GRCm39)	F250L	probably damaging	Het
Blnk	T	C	19: 40,940,854 (GRCm39)	E183G	possibly damaging	Het
Csf3	T	C	11: 98,592,928 (GRCm39)	L97P	probably damaging	Het
Derl2	A	G	11: 70,910,035 (GRCm39)	Y10H	probably damaging	Het
Dgkb	A	G	12: 38,234,939 (GRCm39)	N435D	probably damaging	Het
Dpy19l2	C	A	9: 24,492,526 (GRCm39)	V691L	probably benign	Het
Exoc5	T	C	14: 49,256,860 (GRCm39)	S509G	probably null	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Fsip2	G	A	2: 82,777,336 (GRCm39)	G121D	probably damaging	Het
Gfm1	T	C	3: 67,361,051 (GRCm39)	S458P	possibly damaging	Het
Grm5	T	A	7: 87,252,278 (GRCm39)	M176K	probably damaging	Het
Herc6	T	A	6: 57,624,099 (GRCm39)	V623D	probably damaging	Het
Hmcn1	G	T	1: 150,479,551 (GRCm39)	P4638T	possibly damaging	Het
Il27ra	A	G	8: 84,768,735 (GRCm39)	Y62H	probably benign	Het
Kcnh8	A	T	17: 53,285,320 (GRCm39)	S1097C	probably benign	Het
Kif19a	T	G	11: 114,678,377 (GRCm39)	S677A	probably damaging	Het
Lrrc37	T	C	11: 103,434,266 (GRCm39)	T792A	unknown	Het
Or8d4	T	C	9: 40,038,506 (GRCm39)	I250M	probably benign	Het
Pcdhgb7	T	A	18: 37,886,852 (GRCm39)	V674D	probably benign	Het
Pik3r6	A	G	11: 68,417,207 (GRCm39)	S50G	probably benign	Het
Ptpn12	T	C	5: 21,203,357 (GRCm39)	T474A	probably benign	Het
Rbbp6	T	C	7: 122,600,421 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,458,131 (GRCm39)	Y880C	probably damaging	Het
Smc5	A	T	19: 23,221,446 (GRCm39)	V361D	probably benign	Het
Stag1	T	A	9: 100,762,840 (GRCm39)	H480Q	probably damaging	Het
Tdpoz2	T	C	3: 93,559,153 (GRCm39)	E273G	probably damaging	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Tmx4	T	C	2: 134,451,444 (GRCm39)	T170A	probably benign	Het
Vmn1r59	A	T	7: 5,457,064 (GRCm39)	M232K	possibly damaging	Het
Wdr20rt	A	G	12: 65,273,380 (GRCm39)	D180G	probably damaging	Het

Other mutations in Gm6882

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Gm6882	APN	7	21,161,512 (GRCm39)	missense	probably damaging	1.00
IGL02084:Gm6882	APN	7	21,161,512 (GRCm39)	missense	probably damaging	1.00
R7177:Gm6882	UTSW	7	21,161,677 (GRCm39)	missense	possibly damaging	0.93
R7633:Gm6882	UTSW	7	21,161,577 (GRCm39)	missense	probably damaging	0.98
R7760:Gm6882	UTSW	7	21,161,409 (GRCm39)	missense	probably damaging	1.00
R8337:Gm6882	UTSW	7	21,161,559 (GRCm39)	missense	possibly damaging	0.88
R8417:Gm6882	UTSW	7	21,161,220 (GRCm39)	missense	probably damaging	1.00
R9171:Gm6882	UTSW	7	21,161,254 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGGCCCTCATATTTCTCTGC -3'
(R):5'- GAGTACACCTCACCCATCTG -3'

Sequencing Primer
(F):5'- CTGCTTGCAAGTGTTCCG -3'
(R):5'- GCCAGGATTATGAAATCACTTAGCC -3'

Posted On

2021-01-18