Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Gm12800'

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94173

Institutional Source

Beutler Lab

Gene Symbol

Gm12800

Ensembl Gene

ENSMUSG00000037028

Gene Name

predicted gene 12800

Synonyms

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101909121-101911908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101909164 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

Ref Sequence

ENSEMBL: ENSMUSP00000075380 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075999
AA Change: E15G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: E15G

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Gm12800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Gm12800	APN	4	101910280	missense	probably benign	0.02
IGL02683:Gm12800	APN	4	101910354	missense	probably benign	0.00
IGL03403:Gm12800	APN	4	101909928	missense	probably benign	0.40
R0833:Gm12800	UTSW	4	101910097	missense	probably damaging	0.97
R1953:Gm12800	UTSW	4	101910115	missense	probably benign
R2216:Gm12800	UTSW	4	101910060	missense	probably damaging	0.99
R3746:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R3747:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R3750:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R4931:Gm12800	UTSW	4	101909170	missense	possibly damaging	0.47
R5102:Gm12800	UTSW	4	101909239	missense	probably damaging	1.00
R5586:Gm12800	UTSW	4	101910120	missense	probably benign	0.00
R5822:Gm12800	UTSW	4	101910243	missense	probably damaging	1.00
R6395:Gm12800	UTSW	4	101909992	missense	probably benign
R6904:Gm12800	UTSW	4	101910094	missense	possibly damaging	0.86
R7544:Gm12800	UTSW	4	101911402	missense	possibly damaging	0.56
R7768:Gm12800	UTSW	4	101911813	missense	probably benign
R8342:Gm12800	UTSW	4	101910384	missense	probably benign	0.01
Z1088:Gm12800	UTSW	4	101910186	missense	probably benign	0.00
Z1088:Gm12800	UTSW	4	101909118	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGAACTTTTGGCTTGGAGAGCAC -3'
(R):5'- CATTGAGCACAGCTTGCAGCATC -3'

Sequencing Primer
(F):5'- ATAGTTGGGCAGACTGAATTCTCC -3'
(R):5'- CACACCAGCGGTTTTAAGCAG -3'

Posted On

2014-01-05