Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02084:Gm6882'

283446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6882

Ensembl Gene

ENSMUSG00000109516

Gene Name

predicted gene 6882

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02084

Quality Score

Status

Chromosome

Chromosomal Location

21160925-21161866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21161512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 119 (I119F)

Ref Sequence

ENSEMBL: ENSMUSP00000146341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177741] [ENSMUST00000190145] [ENSMUST00000207192]

AlphaFold

J3KMT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000177741
AA Change: I119F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136005
Gene: ENSMUSG00000109516
AA Change: I119F

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

noncoding transcript
Transcript: ENSMUST00000190145
AA Change: I112F

Predicted Effect

probably damaging
Transcript: ENSMUST00000207192
AA Change: I119F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208254

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,423 (GRCm39)	F1096L	probably benign	Het
Abcd2	T	A	15: 91,062,530 (GRCm39)		probably null	Het
Actr10	T	C	12: 71,001,423 (GRCm39)	I210T	probably damaging	Het
Apoa5	A	T	9: 46,181,950 (GRCm39)	D342V	probably damaging	Het
Bicra	G	A	7: 15,721,663 (GRCm39)	T618I	probably benign	Het
Birc6	C	A	17: 74,915,277 (GRCm39)	Q1642K	probably benign	Het
Cenpn	A	G	8: 117,667,634 (GRCm39)	Y331C	probably damaging	Het
Clcn7	T	A	17: 25,376,899 (GRCm39)	I624N	probably benign	Het
Eddm3b	A	T	14: 51,354,087 (GRCm39)	H25L	unknown	Het
Fam90a1a	A	G	8: 22,449,313 (GRCm39)	E19G	probably benign	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Fbxo41	A	T	6: 85,457,747 (GRCm39)		probably null	Het
Frem3	A	G	8: 81,339,072 (GRCm39)	D455G	possibly damaging	Het
Gart	T	C	16: 91,418,488 (GRCm39)	Q86R	probably benign	Het
Gm45234	T	C	6: 124,724,658 (GRCm39)		probably benign	Het
Gm5431	C	T	11: 48,779,912 (GRCm39)	D337N	probably benign	Het
Kcns3	C	T	12: 11,142,195 (GRCm39)	R168Q	probably damaging	Het
Klra17	T	A	6: 129,808,556 (GRCm39)	N226Y	probably damaging	Het
Macf1	T	C	4: 123,326,396 (GRCm39)	N2915D	probably benign	Het
Macf1	T	C	4: 123,353,167 (GRCm39)	D1504G	probably damaging	Het
Mgat4d	C	T	8: 84,095,610 (GRCm39)	S295L	possibly damaging	Het
Mslnl	T	C	17: 25,965,125 (GRCm39)	V497A	probably benign	Het
Mtor	T	C	4: 148,555,137 (GRCm39)	S920P	probably damaging	Het
Mynn	C	A	3: 30,665,764 (GRCm39)	H465Q	probably damaging	Het
Myo16	A	G	8: 10,411,088 (GRCm39)	E182G	probably damaging	Het
Ncln	T	C	10: 81,324,430 (GRCm39)	I417V	probably benign	Het
Nlrp4f	A	T	13: 65,341,985 (GRCm39)	C553*	probably null	Het
Or5k14	G	A	16: 58,693,399 (GRCm39)	T38I	probably damaging	Het
Or8k37	T	A	2: 86,469,980 (GRCm39)	Q24L	possibly damaging	Het
Pkhd1	T	C	1: 20,447,623 (GRCm39)	I2257V	probably damaging	Het
Ppp4r4	T	A	12: 103,566,657 (GRCm39)	S35T	possibly damaging	Het
Qrfprl	T	C	6: 65,358,594 (GRCm39)	V106A	probably benign	Het
Rnf213	T	C	11: 119,336,499 (GRCm39)	V3291A	probably benign	Het
Runx2	C	T	17: 45,035,716 (GRCm39)	A173T	probably damaging	Het
Ryr2	A	T	13: 11,807,648 (GRCm39)	Y833*	probably null	Het
Setbp1	G	A	18: 78,900,625 (GRCm39)	A1014V	probably damaging	Het
Slc25a38	A	G	9: 119,949,512 (GRCm39)		probably benign	Het
Stk4	A	G	2: 163,928,527 (GRCm39)	T120A	probably benign	Het
Taf3	A	T	2: 10,047,330 (GRCm39)	V106D	probably benign	Het
Uchl5	A	G	1: 143,677,912 (GRCm39)	I139V	possibly damaging	Het
Ung	A	G	5: 114,268,637 (GRCm39)	E25G	probably benign	Het
Wrn	A	G	8: 33,775,207 (GRCm39)	V619A	probably benign	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
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
R8473:Gm6882	UTSW	7	21,161,440 (GRCm39)	missense	probably damaging	1.00
R9171:Gm6882	UTSW	7	21,161,254 (GRCm39)	nonsense	probably null

Posted On

2015-04-16