Mutagenetix > Incidental Mutation

Incidental Mutation 'R6715:Gm11992'

529298

Institutional Source

Beutler Lab

Gene Symbol

Gm11992

Ensembl Gene

ENSMUSG00000040978

Gene Name

predicted gene 11992

Synonyms

MMRRC Submission

044833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8998592-9019354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 9011214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 218 (S218R)

Ref Sequence

ENSEMBL: ENSMUSP00000039806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043285]

AlphaFold

Q5SS90

Predicted Effect

probably damaging
Transcript: ENSMUST00000043285
AA Change: S218R

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

SMART Domains

Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: S218R

Domain	Start	End	E-Value	Type
low complexity region	244	255	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC

Meta Mutation Damage Score

0.1122

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	G	A	12: 88,425,850 (GRCm39)	R426H	probably damaging	Het
Arl2	G	A	19: 6,187,555 (GRCm39)	R98C	probably damaging	Het
Atm	A	G	9: 53,442,948 (GRCm39)	I105T	probably damaging	Het
Cnnm2	G	A	19: 46,842,412 (GRCm39)	G565E	probably damaging	Het
Ddx60	G	A	8: 62,436,924 (GRCm39)	G958D	probably benign	Het
Fbxo2	T	A	4: 148,250,226 (GRCm39)	M252K	probably benign	Het
Filip1	C	A	9: 79,726,040 (GRCm39)	A860S	probably benign	Het
Gnb3	A	G	6: 124,814,691 (GRCm39)	L69P	possibly damaging	Het
Gpr18	T	G	14: 122,149,389 (GRCm39)	H212P	possibly damaging	Het
Iqcb1	T	C	16: 36,655,991 (GRCm39)	F126S	probably damaging	Het
Katnip	C	T	7: 125,361,001 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 192,019,949 (GRCm39)	D425G	probably benign	Het
Kdm5b	T	A	1: 134,536,799 (GRCm39)		probably null	Het
Mcm3ap	C	T	10: 76,325,366 (GRCm39)	T989M	possibly damaging	Het
Mtor	T	C	4: 148,623,004 (GRCm39)	C1999R	probably benign	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Myof	A	T	19: 37,956,794 (GRCm39)	D508E	probably benign	Het
Or52b2	A	T	7: 104,986,539 (GRCm39)	I128N	probably damaging	Het
Or56b2j	G	A	7: 104,353,163 (GRCm39)	V130M	possibly damaging	Het
Or5l13	T	A	2: 87,780,335 (GRCm39)	M81L	probably benign	Het
Osbpl7	A	G	11: 96,945,425 (GRCm39)	H266R	probably damaging	Het
Pear1	T	C	3: 87,666,424 (GRCm39)	Y93C	probably damaging	Het
Pgr	A	G	9: 8,965,000 (GRCm39)	H881R	possibly damaging	Het
Rfx1	A	G	8: 84,822,444 (GRCm39)	E914G	possibly damaging	Het
Samm50	T	C	15: 84,095,259 (GRCm39)	I415T	probably benign	Het
Snx7	T	C	3: 117,575,985 (GRCm39)	D434G	possibly damaging	Het
Susd4	G	A	1: 182,719,602 (GRCm39)	V406M	probably benign	Het
Syt15	G	T	14: 33,944,819 (GRCm39)	G122V	probably damaging	Het
Tlr5	A	G	1: 182,800,224 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,721,556 (GRCm39)		probably null	Het
Vmn1r211	C	A	13: 23,035,949 (GRCm39)	M239I	probably benign	Het
Vps37a	G	T	8: 40,993,902 (GRCm39)		probably null	Het

Other mutations in Gm11992

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Gm11992	APN	11	9,018,383 (GRCm39)	makesense	probably null
IGL01837:Gm11992	APN	11	9,011,266 (GRCm39)	missense	probably damaging	1.00
IGL02405:Gm11992	APN	11	9,009,939 (GRCm39)	missense	probably benign	0.00
IGL02875:Gm11992	APN	11	9,002,887 (GRCm39)	unclassified	probably benign
P0023:Gm11992	UTSW	11	9,002,846 (GRCm39)	missense	probably damaging	1.00
R5100:Gm11992	UTSW	11	9,011,290 (GRCm39)	missense	probably damaging	0.99
R5471:Gm11992	UTSW	11	9,018,333 (GRCm39)	critical splice acceptor site	probably null
R5935:Gm11992	UTSW	11	9,002,711 (GRCm39)	missense	probably damaging	1.00
R7559:Gm11992	UTSW	11	9,002,747 (GRCm39)	missense	possibly damaging	0.94
R7910:Gm11992	UTSW	11	8,999,165 (GRCm39)	missense	probably damaging	1.00
R8397:Gm11992	UTSW	11	9,011,305 (GRCm39)	missense	probably damaging	1.00
R9696:Gm11992	UTSW	11	9,006,438 (GRCm39)	missense	probably benign	0.01
R9702:Gm11992	UTSW	11	9,006,568 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCATCTTTATGTTAGAAATGGGG -3'
(R):5'- GAGTTTTCTCAGAGCCTTCAGG -3'

Sequencing Primer
(F):5'- CTCACCTGAGACTGAGAGAGG -3'
(R):5'- AGCCTTCAGGGGTCTCTG -3'

Posted On

2018-07-24