Mutagenetix > Incidental Mutation

Incidental Mutation 'R4408:Gm10799'

327750

Institutional Source

Beutler Lab

Gene Symbol

Gm10799

Ensembl Gene

ENSMUSG00000075006

Gene Name

predicted gene 10799

Synonyms

MMRRC Submission

041690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R4408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103898392-103898895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103898409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 99 (A99S)

Ref Sequence

ENSEMBL: ENSMUSP00000097259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000090429] [ENSMUST00000099666] [ENSMUST00000104891] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]

AlphaFold

F7C7U2

Predicted Effect

probably benign
Transcript: ENSMUST00000028603

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	294	384	3.1e-30	PFAM
coiled coil region	417	446	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090429

SMART Domains

Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099666
AA Change: A99S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097259
Gene: ENSMUSG00000075006
AA Change: A99S

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000104891

SMART Domains

Protein: ENSMUSP00000100487
Gene: ENSMUSG00000078091

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111130

SMART Domains

Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111131

SMART Domains

Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	84	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111132

SMART Domains

Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	55	1.2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129749

SMART Domains

Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	A	G	17: 25,599,601 (GRCm39)	V1588A	probably damaging	Het
Card6	T	A	15: 5,130,536 (GRCm39)	M287L	probably damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fndc5	A	G	4: 129,036,322 (GRCm39)		probably null	Het
Gm27013	A	T	6: 130,654,728 (GRCm39)	S245T	possibly damaging	Het
Gm5592	A	G	7: 40,935,872 (GRCm39)	T125A	probably benign	Het
Gml2	T	C	15: 74,696,188 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,585,498 (GRCm39)	N149K	possibly damaging	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Hnrnpu	T	C	1: 178,158,368 (GRCm39)		probably benign	Het
Irf5	A	G	6: 29,534,000 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,297,513 (GRCm39)	K3149N	probably benign	Het
Lrrn3	A	G	12: 41,504,041 (GRCm39)	V92A	probably benign	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4k77	T	A	2: 111,199,625 (GRCm39)	I216K	possibly damaging	Het
Or9s18	A	G	13: 65,300,514 (GRCm39)	T159A	probably benign	Het
Osr2	T	C	15: 35,300,617 (GRCm39)	Y58H	possibly damaging	Het
Pop5	C	T	5: 115,378,836 (GRCm39)		probably benign	Het
Ror2	A	G	13: 53,272,997 (GRCm39)	C211R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sgsm2	C	A	11: 74,742,592 (GRCm39)	R957L	probably damaging	Het
Slc16a11	A	G	11: 70,106,560 (GRCm39)		probably null	Het
Spag17	T	A	3: 100,010,694 (GRCm39)	Y2063N	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn1r23	T	C	6: 57,903,353 (GRCm39)	I142V	probably benign	Het
Vmn1r235	A	G	17: 21,481,854 (GRCm39)	K60E	probably damaging	Het
Vmn2r33	A	C	7: 7,554,229 (GRCm39)	F775V	probably damaging	Het
Vps13b	C	T	15: 35,709,440 (GRCm39)	P1796S	probably damaging	Het
Vwa3a	G	A	7: 120,378,149 (GRCm39)	V480I	probably benign	Het

Other mutations in Gm10799

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4884:Gm10799	UTSW	2	103,898,552 (GRCm39)	missense	probably damaging	0.99
R8238:Gm10799	UTSW	2	103,898,496 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GCTGAGAAGGTTTTCAGCCAC -3'
(R):5'- TCACCACATGGCAATACCTG -3'

Sequencing Primer
(F):5'- GGTTTTCAGCCACAAGGAGACC -3'
(R):5'- GTCAAGAAGAAGCCCCCTGTTTG -3'

Posted On

2015-07-07