Mutagenetix > Incidental Mutation

Incidental Mutation 'R6626:Gm9493'

524839

Institutional Source

Beutler Lab

Gene Symbol

Gm9493

Ensembl Gene

ENSMUSG00000044424

Gene Name

predicted gene 9493

Synonyms

MMRRC Submission

044748-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23597113-23597683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23597209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 35 (K35M)

Ref Sequence

ENSEMBL: ENSMUSP00000100516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035849] [ENSMUST00000104916]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035849

SMART Domains

Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053

Domain	Start	End	E-Value	Type
Pfam:DUF4572	28	219	1.3e-89	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104916
AA Change: K35M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100516
Gene: ENSMUSG00000044424
AA Change: K35M

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S7e	5	189	2e-96	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	T	C	11: 3,888,056 (GRCm39)	H110R	unknown	Het
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Ank1	T	A	8: 23,465,207 (GRCm39)	L19H	probably damaging	Het
Bcl9	C	T	3: 97,122,712 (GRCm39)	R29H	probably benign	Het
Boc	A	T	16: 44,340,803 (GRCm39)	I49N	possibly damaging	Het
C8a	T	C	4: 104,703,164 (GRCm39)	I298V	probably benign	Het
Cacna1s	T	C	1: 136,022,703 (GRCm39)	S879P	probably damaging	Het
Cacna2d3	T	C	14: 28,786,143 (GRCm39)		probably benign	Het
Dnm1	A	G	2: 32,230,892 (GRCm39)	I63T	probably damaging	Het
Flnb	C	T	14: 7,929,012 (GRCm38)	R1914C	probably damaging	Het
Gpld1	T	C	13: 25,163,953 (GRCm39)	S552P	probably damaging	Het
Hacd1	T	A	2: 14,031,755 (GRCm39)	I243F	probably benign	Het
Klhdc4	A	G	8: 122,546,901 (GRCm39)	V110A	probably benign	Het
Krt26	C	T	11: 99,220,528 (GRCm39)	V441M	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Nav2	A	G	7: 49,244,100 (GRCm39)	Y2109C	probably damaging	Het
Ncbp3	T	A	11: 72,964,210 (GRCm39)	S387T	possibly damaging	Het
Notch2	T	G	3: 98,008,921 (GRCm39)	V513G	probably damaging	Het
Nt5c1b	A	T	12: 10,424,837 (GRCm39)	R128*	probably null	Het
Olig2	T	C	16: 91,024,044 (GRCm39)	S253P	unknown	Het
Or6b1	A	G	6: 42,815,582 (GRCm39)	M256V	probably benign	Het
Or8g17	A	G	9: 38,930,402 (GRCm39)	V145A	possibly damaging	Het
Or8k53	C	T	2: 86,177,364 (GRCm39)	V249I	possibly damaging	Het
Phkb	T	A	8: 86,648,780 (GRCm39)	F199I	probably damaging	Het
Rnf17	A	G	14: 56,665,381 (GRCm39)	T178A	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Slc16a4	G	A	3: 107,208,512 (GRCm39)	A341T	possibly damaging	Het
Spata31h1	A	G	10: 82,128,667 (GRCm39)	F1448L	probably benign	Het
Tank	T	A	2: 61,480,640 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,677,822 (GRCm39)	Y69F	probably damaging	Het
Trp53bp1	T	C	2: 121,038,284 (GRCm39)	D1518G	probably damaging	Het
Txndc16	T	C	14: 45,398,792 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,281,028 (GRCm39)	Y227H	probably damaging	Het
Vps50	G	A	6: 3,551,101 (GRCm39)	W388*	probably null	Het
Zfp516	T	A	18: 83,006,232 (GRCm39)	D1045E	probably damaging	Het
Zscan10	C	T	17: 23,824,831 (GRCm39)	P96S	probably damaging	Het

Other mutations in Gm9493

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0863:Gm9493	UTSW	19	23,597,173 (GRCm39)	missense	probably benign	0.26
R6057:Gm9493	UTSW	19	23,597,106 (GRCm39)	missense	probably damaging	1.00
R7458:Gm9493	UTSW	19	23,597,277 (GRCm39)	missense	probably benign	0.00
R7990:Gm9493	UTSW	19	23,597,397 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGTGGGTTCCAGACTGCATG -3'
(R):5'- TTGGGCAGAATCCTCCTCTG -3'

Sequencing Primer
(F):5'- TTCCAGACTGCATGTGAGAG -3'
(R):5'- GAATCCTCCTCTGAGCAATGAAG -3'

Posted On

2018-06-22