Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Gm12800'

392409

Institutional Source

Beutler Lab

Gene Symbol

Gm12800

Ensembl Gene

ENSMUSG00000037028

Gene Name

predicted gene 12800

Synonyms

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101909121-101911908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101909239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 40 (F40S)

Ref Sequence

ENSEMBL: ENSMUSP00000075380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075999]

AlphaFold

B1AUV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000075999
AA Change: F40S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: F40S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	206	410	9e-11	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891 (GRCm38)	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778 (GRCm38)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249 (GRCm38)		probably null	Het
Arhgap45	C	T	10: 80,021,428 (GRCm38)	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600 (GRCm38)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955 (GRCm38)	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986 (GRCm38)		probably benign	Het
Bmp4	T	C	14: 46,384,001 (GRCm38)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913 (GRCm38)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885 (GRCm38)	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793 (GRCm38)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836 (GRCm38)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702 (GRCm38)	S173P	probably damaging	Het
D3Ertd254e	G	A	3: 36,162,665 (GRCm38)	C55Y	possibly damaging	Het
D6Ertd527e	A	T	6: 87,111,811 (GRCm38)	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177 (GRCm38)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861 (GRCm38)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm38)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm38)	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970 (GRCm38)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284 (GRCm38)	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955 (GRCm38)	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977 (GRCm38)	K244Q	probably benign	Het
Golim4	A	G	3: 75,903,272 (GRCm38)	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167 (GRCm38)	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763 (GRCm38)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626 (GRCm38)	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123 (GRCm38)		probably null	Het
Hmgcs2	T	C	3: 98,280,470 (GRCm38)		probably benign	Het
Ide	T	A	19: 37,314,984 (GRCm38)	I271L	unknown	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403 (GRCm38)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423 (GRCm38)		probably null	Het
Lhx6	T	C	2: 36,094,210 (GRCm38)		probably null	Het
Lrp2	C	T	2: 69,489,158 (GRCm38)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304 (GRCm38)	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038 (GRCm38)	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528 (GRCm38)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105 (GRCm38)	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570 (GRCm38)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108 (GRCm38)	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627 (GRCm38)	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794 (GRCm38)	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044 (GRCm38)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154 (GRCm38)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386 (GRCm38)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945 (GRCm38)	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374 (GRCm38)	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359 (GRCm38)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773 (GRCm38)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236 (GRCm38)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618 (GRCm38)	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623 (GRCm38)	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017 (GRCm38)		probably null	Het

Other mutations in Gm12800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Gm12800	APN	4	101,910,280 (GRCm38)	missense	probably benign	0.02
IGL02683:Gm12800	APN	4	101,910,354 (GRCm38)	missense	probably benign	0.00
IGL03403:Gm12800	APN	4	101,909,928 (GRCm38)	missense	probably benign	0.40
R0833:Gm12800	UTSW	4	101,910,097 (GRCm38)	missense	probably damaging	0.97
R1054:Gm12800	UTSW	4	101,909,164 (GRCm38)	missense	probably benign	0.00
R1953:Gm12800	UTSW	4	101,910,115 (GRCm38)	missense	probably benign
R2216:Gm12800	UTSW	4	101,910,060 (GRCm38)	missense	probably damaging	0.99
R3746:Gm12800	UTSW	4	101,909,876 (GRCm38)	missense	possibly damaging	0.63
R3747:Gm12800	UTSW	4	101,909,876 (GRCm38)	missense	possibly damaging	0.63
R3750:Gm12800	UTSW	4	101,909,876 (GRCm38)	missense	possibly damaging	0.63
R4931:Gm12800	UTSW	4	101,909,170 (GRCm38)	missense	possibly damaging	0.47
R5586:Gm12800	UTSW	4	101,910,120 (GRCm38)	missense	probably benign	0.00
R5822:Gm12800	UTSW	4	101,910,243 (GRCm38)	missense	probably damaging	1.00
R6395:Gm12800	UTSW	4	101,909,992 (GRCm38)	missense	probably benign
R6904:Gm12800	UTSW	4	101,910,094 (GRCm38)	missense	possibly damaging	0.86
R7544:Gm12800	UTSW	4	101,911,402 (GRCm38)	missense	possibly damaging	0.56
R7768:Gm12800	UTSW	4	101,911,813 (GRCm38)	missense	probably benign
R8342:Gm12800	UTSW	4	101,910,384 (GRCm38)	missense	probably benign	0.01
R8917:Gm12800	UTSW	4	101,911,738 (GRCm38)	missense	probably benign	0.09
Z1088:Gm12800	UTSW	4	101,909,118 (GRCm38)	splice site	probably null
Z1088:Gm12800	UTSW	4	101,910,186 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAATTCTCCATTATTGCCAGAGC -3'
(R):5'- TTGGGCCTTGCTTACCTGAG -3'

Sequencing Primer
(F):5'- TCCTGCGATGGTGAGACATAG -3'
(R):5'- CTGAGACTAACATTCTGTGTCAGCAG -3'

Posted On

2016-06-15