Mutagenetix > Incidental Mutation

Incidental Mutation 'R0693:Gm5114'

63398

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

038878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0693 (G1)

Quality Score

118

Status

Not validated

Chromosome

Chromosomal Location

39056718-39062584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39058188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 477 (D477G)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108017]

AlphaFold

W4VSN8

Predicted Effect

probably benign
Transcript: ENSMUST00000108017
AA Change: D477G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: D477G

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	2.5e-65	PFAM
low complexity region	709	726	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Ccnj	T	A	19: 40,825,551 (GRCm39)	L87H	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gbgt1	G	A	2: 28,394,842 (GRCm39)	G160D	probably damaging	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Nfe2l3	A	G	6: 51,410,034 (GRCm39)	T50A	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Prkg1	T	A	19: 30,572,378 (GRCm39)	Q426L	probably benign	Het
Rnf215	G	A	11: 4,090,401 (GRCm39)		probably null	Het
Sp100	T	A	1: 85,594,726 (GRCm39)		probably null	Het
Tbc1d21	G	A	9: 58,268,570 (GRCm39)	T263M	probably damaging	Het
Tenm2	G	A	11: 35,915,636 (GRCm39)	T1966M	probably damaging	Het
Tnni3k	T	C	3: 154,667,609 (GRCm39)	Y268C	probably damaging	Het
Usp34	A	G	11: 23,402,637 (GRCm39)	T2477A	probably damaging	Het

Other mutations in Gm5114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Gm5114	APN	7	39,060,071 (GRCm39)	splice site	probably benign
IGL01295:Gm5114	APN	7	39,057,241 (GRCm39)	missense	probably damaging	1.00
IGL01349:Gm5114	APN	7	39,058,531 (GRCm39)	missense	probably benign
IGL01633:Gm5114	APN	7	39,057,490 (GRCm39)	missense	probably benign
IGL01634:Gm5114	APN	7	39,058,071 (GRCm39)	missense	probably benign
IGL02072:Gm5114	APN	7	39,060,826 (GRCm39)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,060,530 (GRCm39)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,060,529 (GRCm39)	missense	probably benign
R0034:Gm5114	UTSW	7	39,058,282 (GRCm39)	missense	possibly damaging	0.83
R0127:Gm5114	UTSW	7	39,057,880 (GRCm39)	missense	probably benign	0.00
R0328:Gm5114	UTSW	7	39,057,885 (GRCm39)	missense	probably damaging	1.00
R0387:Gm5114	UTSW	7	39,058,233 (GRCm39)	missense	probably benign	0.15
R1006:Gm5114	UTSW	7	39,058,510 (GRCm39)	missense	probably damaging	1.00
R2039:Gm5114	UTSW	7	39,058,612 (GRCm39)	missense	probably damaging	1.00
R3433:Gm5114	UTSW	7	39,058,621 (GRCm39)	missense	probably benign	0.02
R3834:Gm5114	UTSW	7	39,058,161 (GRCm39)	missense	possibly damaging	0.69
R4320:Gm5114	UTSW	7	39,057,051 (GRCm39)	missense	probably damaging	1.00
R5214:Gm5114	UTSW	7	39,057,792 (GRCm39)	missense	probably benign	0.19
R5443:Gm5114	UTSW	7	39,058,289 (GRCm39)	missense	probably benign	0.00
R5471:Gm5114	UTSW	7	39,058,534 (GRCm39)	nonsense	probably null
R5707:Gm5114	UTSW	7	39,060,700 (GRCm39)	missense	probably benign	0.01
R6129:Gm5114	UTSW	7	39,058,024 (GRCm39)	missense	possibly damaging	0.71
R6234:Gm5114	UTSW	7	39,058,768 (GRCm39)	missense	probably benign	0.19
R6326:Gm5114	UTSW	7	39,057,579 (GRCm39)	missense	probably benign
R6443:Gm5114	UTSW	7	39,057,141 (GRCm39)	missense	possibly damaging	0.91
R6530:Gm5114	UTSW	7	39,057,514 (GRCm39)	missense	probably damaging	1.00
R6743:Gm5114	UTSW	7	39,057,997 (GRCm39)	missense	probably benign	0.42
R6770:Gm5114	UTSW	7	39,057,967 (GRCm39)	missense	possibly damaging	0.94
R6885:Gm5114	UTSW	7	39,057,580 (GRCm39)	missense	probably benign	0.01
R6980:Gm5114	UTSW	7	39,058,624 (GRCm39)	missense	probably benign	0.01
R7100:Gm5114	UTSW	7	39,057,708 (GRCm39)	missense	possibly damaging	0.52
R7215:Gm5114	UTSW	7	39,060,795 (GRCm39)	missense	probably benign	0.02
R7254:Gm5114	UTSW	7	39,058,390 (GRCm39)	missense	probably benign	0.35
R7343:Gm5114	UTSW	7	39,058,180 (GRCm39)	missense	probably damaging	1.00
R7366:Gm5114	UTSW	7	39,058,768 (GRCm39)	missense	possibly damaging	0.69
R7474:Gm5114	UTSW	7	39,057,404 (GRCm39)	missense	probably benign	0.01
R7499:Gm5114	UTSW	7	39,058,489 (GRCm39)	missense	possibly damaging	0.55
R8022:Gm5114	UTSW	7	39,058,800 (GRCm39)	missense	probably benign
R8121:Gm5114	UTSW	7	39,057,552 (GRCm39)	missense	probably benign	0.15
R8201:Gm5114	UTSW	7	39,060,373 (GRCm39)	missense	probably damaging	0.98
R8212:Gm5114	UTSW	7	39,060,676 (GRCm39)	missense	probably benign	0.18
R8321:Gm5114	UTSW	7	39,060,273 (GRCm39)	missense	possibly damaging	0.85
R8725:Gm5114	UTSW	7	39,060,657 (GRCm39)	missense	probably benign	0.17
R8752:Gm5114	UTSW	7	39,057,927 (GRCm39)	missense	probably damaging	0.99
R8891:Gm5114	UTSW	7	39,057,718 (GRCm39)	missense	probably benign	0.05
R8934:Gm5114	UTSW	7	39,060,553 (GRCm39)	missense	probably benign	0.14
R8969:Gm5114	UTSW	7	39,058,732 (GRCm39)	missense	probably damaging	1.00
R9158:Gm5114	UTSW	7	39,060,486 (GRCm39)	missense	probably damaging	0.97
R9419:Gm5114	UTSW	7	39,057,540 (GRCm39)	missense	possibly damaging	0.92
R9453:Gm5114	UTSW	7	39,058,242 (GRCm39)	missense	probably damaging	0.99
Z1088:Gm5114	UTSW	7	39,057,871 (GRCm39)	missense	probably damaging	1.00
Z1177:Gm5114	UTSW	7	39,058,750 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCCTCACCTGGCATGTTTAACACTG -3'
(R):5'- GTCCTGTGAAAACTGGAGAGTCACC -3'

Sequencing Primer
(F):5'- AGAGATGCCAGTTTTCTTCTCAATC -3'
(R):5'- TGGAGAGTCACCAGTGGTC -3'

Posted On

2013-07-30