Mutagenetix > Incidental Mutation

Incidental Mutation 'R1317:Gm5519'

157587

Institutional Source

Beutler Lab

Gene Symbol

Gm5519

Ensembl Gene

ENSMUSG00000037603

Gene Name

predicted pseudogene 5519

Synonyms

MMRRC Submission

039383-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R1317 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

33800308-33802468 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33802391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 145 (Y145H)

Ref Sequence

ENSEMBL: ENSMUSP00000047171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042061]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042061
AA Change: Y145H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047171
Gene: ENSMUSG00000037603
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:NUDIX	11	142	3.4e-17	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.7%
20x: 84.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Afdn	A	G	17: 14,066,535 (GRCm39)	T576A	probably benign	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Ccdc7b	A	T	8: 129,863,127 (GRCm39)	H223L	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cryba2	G	T	1: 74,929,835 (GRCm39)		probably null	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Ifi209	A	G	1: 173,465,029 (GRCm39)	D53G	possibly damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Jag2	T	A	12: 112,878,121 (GRCm39)	M537L	probably benign	Het
Mid1	A	C	X: 168,769,090 (GRCm39)	N215H	probably damaging	Het
Mt1	T	C	8: 94,906,781 (GRCm39)		probably benign	Het
Myo15b	C	A	11: 115,774,460 (GRCm39)	P2024Q	probably null	Het
Nphs1	C	T	7: 30,181,256 (GRCm39)		probably benign	Het
Rbm27	G	A	18: 42,457,116 (GRCm39)		probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Slc25a23	T	C	17: 57,360,888 (GRCm39)	K179E	possibly damaging	Het
Smad5	T	C	13: 56,883,884 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Tspan32	A	G	7: 142,571,328 (GRCm39)	M159V	probably benign	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Zbtb1	A	G	12: 76,433,573 (GRCm39)	S520G	probably benign	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het

Other mutations in Gm5519

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Graham	UTSW	19	33,802,471 (GRCm39)	makesense	probably null
R1171:Gm5519	UTSW	19	33,800,372 (GRCm39)	missense	possibly damaging	0.79
R1751:Gm5519	UTSW	19	33,802,391 (GRCm39)	missense	possibly damaging	0.77
R2873:Gm5519	UTSW	19	33,802,410 (GRCm39)	missense	possibly damaging	0.88
R5117:Gm5519	UTSW	19	33,802,471 (GRCm39)	makesense	probably null
R5256:Gm5519	UTSW	19	33,800,576 (GRCm39)	missense	probably damaging	1.00
R6355:Gm5519	UTSW	19	33,802,471 (GRCm39)	makesense	probably null
R7673:Gm5519	UTSW	19	33,802,428 (GRCm39)	missense	probably benign	0.08
R7674:Gm5519	UTSW	19	33,802,428 (GRCm39)	missense	probably benign	0.08
R7675:Gm5519	UTSW	19	33,802,428 (GRCm39)	missense	probably benign	0.08
R8078:Gm5519	UTSW	19	33,800,357 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- CTGCGAACAGTAGACACCTCAGATG -3'
(R):5'- TTCTATGCCACCAGGACAATTCAGC -3'

Sequencing Primer
(F):5'- GAATGCTTTGCTACATGAGACCC -3'
(R):5'- TCTTGAGTTATATCAGGAGACTGC -3'

Posted On

2014-02-18