Mutagenetix > Incidental Mutation

Incidental Mutation 'R5508:BC016579'

431046

Institutional Source

Beutler Lab

Gene Symbol

BC016579

Ensembl Gene

ENSMUSG00000033187

Gene Name

cDNA sequence, BC016579

Synonyms

MMRRC Submission

043069-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45447211-45474431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45453369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 149 (T149S)

Ref Sequence

ENSEMBL: ENSMUSP00000037651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036732]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036732
AA Change: T149S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037651
Gene: ENSMUSG00000033187
AA Change: T149S

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.7%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Apc	A	G	18: 34,431,633 (GRCm39)	D344G	probably damaging	Het
Asphd2	A	T	5: 112,534,649 (GRCm39)	F300I	probably damaging	Het
Bcl6b	A	T	11: 70,116,919 (GRCm39)	H453Q	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Clec4b2	A	G	6: 123,150,001 (GRCm39)		probably benign	Het
Crispld1	G	T	1: 17,823,207 (GRCm39)	C396F	probably damaging	Het
Dnase1l3	A	G	14: 7,968,146 (GRCm38)	V253A	probably damaging	Het
Efhd1	A	G	1: 87,237,516 (GRCm39)	*241W	probably null	Het
Flvcr1	C	T	1: 190,757,656 (GRCm39)	G212D	probably damaging	Het
Golga2	T	A	2: 32,178,199 (GRCm39)	L36*	probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf3c2	G	T	5: 31,331,805 (GRCm39)	C4*	probably null	Het
Kit	G	T	5: 75,810,208 (GRCm39)	C786F	probably damaging	Het
Klf14	T	C	6: 30,934,977 (GRCm39)	H219R	probably damaging	Het
Large2	A	G	2: 92,200,248 (GRCm39)	V122A	possibly damaging	Het
Lct	G	A	1: 128,221,868 (GRCm39)	A1557V	probably damaging	Het
Lrp6	T	G	6: 134,441,479 (GRCm39)	K1162N	probably benign	Het
Mtmr11	G	A	3: 96,071,084 (GRCm39)	R147Q	probably damaging	Het
Pbld2	T	A	10: 62,902,444 (GRCm39)		probably null	Het
Pcdhb3	A	T	18: 37,434,179 (GRCm39)	L48F	probably damaging	Het
Pdcd2	C	T	17: 15,742,001 (GRCm39)	D310N	probably damaging	Het
Phlpp1	G	T	1: 106,292,120 (GRCm39)	R993L	probably benign	Het
Prr36	G	A	8: 4,266,488 (GRCm39)	P21S	probably damaging	Het
Ptprq	C	A	10: 107,522,092 (GRCm39)	V620L	probably benign	Het
Ranbp2	T	A	10: 58,315,827 (GRCm39)	D2182E	probably damaging	Het
Sass6	G	A	3: 116,413,752 (GRCm39)	R485K	probably benign	Het
Scoc	A	T	8: 84,162,571 (GRCm39)	S68T	probably damaging	Het
Speer3	T	A	5: 13,844,678 (GRCm39)	L114I	probably damaging	Het
Ss18l1	C	G	2: 179,699,446 (GRCm39)	Q215E	probably damaging	Het
Stab2	T	C	10: 86,796,143 (GRCm39)	N368S	probably benign	Het
Trim80	T	A	11: 115,335,904 (GRCm39)	S275R	probably benign	Het
Tubb5	T	C	17: 36,145,962 (GRCm39)	N416S	probably benign	Het
Ugt2a3	A	T	5: 87,475,059 (GRCm39)	M395K	probably damaging	Het
Vmn2r61	T	A	7: 41,916,242 (GRCm39)	M285K	possibly damaging	Het
Xpo1	A	G	11: 23,244,645 (GRCm39)	I1008V	probably benign	Het

Other mutations in BC016579

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02818:BC016579	APN	16	45,449,865 (GRCm39)	missense	probably damaging	0.99
IGL03061:BC016579	APN	16	45,449,849 (GRCm39)	missense	probably damaging	0.98
BB003:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
BB013:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
R0026:BC016579	UTSW	16	45,460,730 (GRCm39)	missense	probably benign	0.02
R0026:BC016579	UTSW	16	45,460,730 (GRCm39)	missense	probably benign	0.02
R0763:BC016579	UTSW	16	45,449,818 (GRCm39)	missense	probably damaging	0.97
R3424:BC016579	UTSW	16	45,449,846 (GRCm39)	missense	probably damaging	0.97
R3751:BC016579	UTSW	16	45,453,361 (GRCm39)	splice site	probably null
R4512:BC016579	UTSW	16	45,453,363 (GRCm39)	missense	possibly damaging	0.61
R5447:BC016579	UTSW	16	45,469,252 (GRCm39)	missense	probably benign	0.00
R7926:BC016579	UTSW	16	45,449,825 (GRCm39)	missense	probably damaging	1.00
R9707:BC016579	UTSW	16	45,460,760 (GRCm39)	missense	probably damaging	0.99
Z1088:BC016579	UTSW	16	45,474,311 (GRCm39)	missense	probably benign	0.06
Z1177:BC016579	UTSW	16	45,469,259 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAGATGTTGCCCTGCACCAC -3'
(R):5'- GCTTTGATTTGTGGTCAGCTTACAC -3'

Sequencing Primer
(F):5'- ACTGCAGCGTGACACTGTG -3'
(R):5'- TCTTCCTCCAGAACCCCAAAC -3'

Posted On

2016-10-05