Mutagenetix > Incidental Mutations

Incidental Mutation 'R1736:BC025446'

199745

Institutional Source

Beutler Lab

Gene Symbol

BC025446

Ensembl Gene

ENSMUSG00000047728

Gene Name

cDNA sequence BC025446

Synonyms

MMRRC Submission

039768-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75216376-75222661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75217720 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 26 (G26R)

Ref Sequence

ENSEMBL: ENSMUSP00000155184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055719] [ENSMUST00000185307] [ENSMUST00000229521]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055719
AA Change: G26R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053396
Gene: ENSMUSG00000047728
AA Change: G26R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	1.06e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185307
AA Change: G26R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140330
Gene: ENSMUSG00000047728
AA Change: G26R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	5.3e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229521
AA Change: G26R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adcy3	A	G	12: 4,200,998	N586D	possibly damaging	Het
Ak6	T	A	13: 100,655,181		probably null	Het
Ankrd66	T	C	17: 43,543,518	D41G	probably benign	Het
Atp8b2	G	A	3: 89,952,694	P339S	probably damaging	Het
Cacna1d	C	T	14: 30,089,863	V1297I	probably damaging	Het
Cbl	A	T	9: 44,152,895	D781E	possibly damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Clint1	A	G	11: 45,906,177		probably null	Het
Col6a3	A	G	1: 90,779,059	Y2111H	unknown	Het
Csnk1g1	A	G	9: 66,019,915		probably null	Het
Dse	A	T	10: 34,153,149	N648K	probably damaging	Het
Dsp	A	G	13: 38,192,990	K1584E	probably benign	Het
Ezh2	A	T	6: 47,576,660	M41K	probably damaging	Het
Fam71e2	A	G	7: 4,758,154	S520P	probably damaging	Het
Fscn2	G	A	11: 120,368,026	G466S	probably damaging	Het
Gm15217	A	G	14: 46,383,206		probably benign	Het
Gm9696	T	C	3: 59,972,275		noncoding transcript	Het
Gosr2	G	A	11: 103,679,250	Q162*	probably null	Het
Hectd4	T	A	5: 121,349,530	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,079,213	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,290,527	I4074K	probably damaging	Het
Map3k11	A	G	19: 5,697,401	D555G	probably benign	Het
Mindy2	A	G	9: 70,631,030	I341T	probably damaging	Het
Mrnip	G	A	11: 50,176,891		probably null	Het
Muc5b	G	A	7: 141,859,107	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,078,850	I109S	probably damaging	Het
Npas1	G	T	7: 16,474,616	A112D	probably benign	Het
Npffr2	T	A	5: 89,568,066	I84N	probably damaging	Het
Nxph4	T	A	10: 127,526,596	H142L	probably damaging	Het
Otud4	T	A	8: 79,651,665		probably benign	Het
Per3	A	G	4: 151,009,248		probably null	Het
Pigr	G	A	1: 130,841,803	R117Q	possibly damaging	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Prex2	T	A	1: 11,089,884		probably benign	Het
Sall4	G	A	2: 168,752,635	P420L	probably benign	Het
Sap30bp	A	G	11: 115,964,220	K252R	probably damaging	Het
Sec63	T	A	10: 42,827,918	Y692*	probably null	Het
Sema3e	C	T	5: 14,210,376	T181M	probably damaging	Het
Sf3b3	T	C	8: 110,813,832	I986V	probably benign	Het
Shisa4	A	T	1: 135,371,962	Y194*	probably null	Het
Slc17a6	G	A	7: 51,661,585		probably benign	Het
Smg1	T	G	7: 118,165,967		probably null	Het
Smim7	C	T	8: 72,571,005	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,726,497	G1075R	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Stag3	T	C	5: 138,304,509		probably benign	Het
Tbce	A	G	13: 14,009,642	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,611,350	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,418,357	I2V	probably benign	Het
Tulp4	T	G	17: 6,233,215	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,677,074		probably null	Het
Ugt2b38	T	A	5: 87,423,633	Q180L	probably benign	Het

Other mutations in BC025446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:BC025446	APN	15	75221656	utr 3 prime	probably benign
R0084:BC025446	UTSW	15	75217775	missense	probably benign	0.01
R0764:BC025446	UTSW	15	75220723	missense	probably benign
R1829:BC025446	UTSW	15	75216756	critical splice donor site	probably null
R5412:BC025446	UTSW	15	75217820	missense	probably damaging	0.98
R5793:BC025446	UTSW	15	75221644	utr 3 prime	probably benign
R7434:BC025446	UTSW	15	75216718	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCACAGGTTCAGCAGACATTTGG -3'
(R):5'- CACTCAGCCACCTTTTATAGGCCAC -3'

Sequencing Primer
(F):5'- CCCAATATGGTGAATGTGTCTC -3'
(R):5'- TTTTATAGGCCACAGGGCAC -3'

Posted On

2014-05-23