Mutagenetix > Incidental Mutation

Incidental Mutation 'R2979:Gm18025'

257045

Institutional Source

Beutler Lab

Gene Symbol

Gm18025

Ensembl Gene

ENSMUSG00000095406

Gene Name

predicted gene, 18025

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R2979 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

34340273-34341134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34340970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 41 (P41Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211752]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000166546
AA Change: P41Q

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

SMART Domains

Protein: ENSMUSP00000132241
Gene: ENSMUSG00000095406
AA Change: P41Q

Domain	Start	End	E-Value	Type
low complexity region	1	32	N/A	INTRINSIC
Pfam:Ribosomal_S5	81	143	8.7e-32	PFAM
Pfam:Ribosomal_S5_C	164	235	3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209750

Predicted Effect

probably benign
Transcript: ENSMUST00000209902

Predicted Effect

probably benign
Transcript: ENSMUST00000209990

Predicted Effect

probably benign
Transcript: ENSMUST00000210724

Predicted Effect

probably benign
Transcript: ENSMUST00000211752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221733

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	A	G	5: 90,670,022 (GRCm39)	I48V	probably benign	Het
Arhgef1	A	G	7: 24,607,176 (GRCm39)	E16G	unknown	Het
Cps1	T	C	1: 67,243,863 (GRCm39)		probably null	Het
Dnah9	T	C	11: 66,008,414 (GRCm39)	K804E	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Kdm4c	A	T	4: 74,291,965 (GRCm39)	R861*	probably null	Het
Klhl2	C	T	8: 65,275,730 (GRCm39)	V58I	probably damaging	Het
Msl1	G	A	11: 98,691,050 (GRCm39)	G178E	possibly damaging	Het
Nacad	T	A	11: 6,551,424 (GRCm39)	Q589L	probably benign	Het
Pros1	A	G	16: 62,734,229 (GRCm39)	D345G	probably damaging	Het
Sh3tc2	A	G	18: 62,122,556 (GRCm39)	Y439C	probably damaging	Het
Smarcad1	T	A	6: 65,051,995 (GRCm39)	M376K	probably benign	Het
Srd5a1	T	C	13: 69,748,418 (GRCm39)	Q127R	probably damaging	Het
Synm	T	G	7: 67,386,008 (GRCm39)	R551S	probably damaging	Het
Trmt1	A	G	8: 85,423,511 (GRCm39)	Y301C	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Zbbx	C	A	3: 74,985,793 (GRCm39)	E420*	probably null	Het
Zc3h7a	A	T	16: 10,976,837 (GRCm39)	V153E	probably damaging	Het

Other mutations in Gm18025

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01883:Gm18025	APN	12	34,340,692 (GRCm39)	missense	probably damaging	1.00
R4681:Gm18025	UTSW	12	34,340,884 (GRCm39)	missense	probably benign	0.17
R5331:Gm18025	UTSW	12	34,340,574 (GRCm39)	missense	probably benign	0.00
R5820:Gm18025	UTSW	12	34,340,631 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCCCAATAGCGACGAAAG -3'
(R):5'- GCTTCTTCTTCGGGAAAACAC -3'

Sequencing Primer
(F):5'- AAAGCCTTGAACCTGGTCTG -3'
(R):5'- TCTTCTTCGGGAAAACACCAAATGG -3'

Posted On

2015-01-11