Mutagenetix > Incidental Mutation

Incidental Mutation 'R6543:Borcs5'

520928

Institutional Source

Beutler Lab

Gene Symbol

Borcs5

Ensembl Gene

ENSMUSG00000042992

Gene Name

BLOC-1 related complex subunit 5

Synonyms

5830457J20Rik, Loh12cr1

MMRRC Submission

044669-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R6543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134616475-134688147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134687143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 167 (T167M)

Ref Sequence

ENSEMBL: ENSMUSP00000127413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062755] [ENSMUST00000166591]

AlphaFold

Q9D920

Predicted Effect

probably damaging
Transcript: ENSMUST00000062755
AA Change: T166M

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

SMART Domains

Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: T166M

Domain	Start	End	E-Value	Type
Pfam:LOH1CR12	61	191	7.9e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166591
AA Change: T167M

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

SMART Domains

Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: T167M

Domain	Start	End	E-Value	Type
Pfam:LOH1CR12	62	192	5.7e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204133

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,908,525 (GRCm39)	V1091A	probably benign	Het
Arhgef11	A	G	3: 87,640,715 (GRCm39)	N1320D	probably benign	Het
Atl3	T	A	19: 7,487,463 (GRCm39)	F126Y	probably damaging	Het
Cplane2	T	G	4: 140,944,599 (GRCm39)	V50G	probably benign	Het
Creld2	A	G	15: 88,709,481 (GRCm39)	T331A	probably benign	Het
Cuzd1	A	G	7: 130,911,497 (GRCm39)	V494A	probably damaging	Het
Dclk1	C	T	3: 55,407,552 (GRCm39)	P244S	probably damaging	Het
Esyt3	T	C	9: 99,220,825 (GRCm39)	N126S	possibly damaging	Het
Focad	T	C	4: 88,197,493 (GRCm39)	S629P	unknown	Het
Grip1	T	C	10: 119,821,499 (GRCm39)	L389P	probably benign	Het
Igkv4-91	A	T	6: 68,745,582 (GRCm39)	D105E	probably damaging	Het
Il20ra	G	A	10: 19,625,071 (GRCm39)	A117T	probably damaging	Het
Il6ra	A	G	3: 89,784,170 (GRCm39)	V367A	probably damaging	Het
Itga8	C	T	2: 12,306,455 (GRCm39)	V47M	probably damaging	Het
Limk2	T	C	11: 3,300,682 (GRCm39)	Y220C	probably damaging	Het
Lims1	T	A	10: 58,248,273 (GRCm39)	C243*	probably null	Het
Man1a	C	A	10: 53,811,077 (GRCm39)	G435*	probably null	Het
Msantd5f4	A	G	4: 73,557,215 (GRCm39)	E16G	probably damaging	Het
Mtor	T	A	4: 148,630,053 (GRCm39)	I2250N	probably damaging	Het
N4bp1	G	A	8: 87,588,534 (GRCm39)	Q135*	probably null	Het
Nbeal2	A	T	9: 110,473,526 (GRCm39)	D76E	probably benign	Het
Nbn	T	C	4: 15,986,605 (GRCm39)	S669P	probably benign	Het
Nfrkb	C	T	9: 31,312,281 (GRCm39)	Q456*	probably null	Het
Or6c3b	C	A	10: 129,527,859 (GRCm39)	G17V	probably benign	Het
Pcnx3	C	T	19: 5,715,275 (GRCm39)	A1557T	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Prokr2	T	A	2: 132,215,819 (GRCm39)	Q53L	probably benign	Het
Pxmp4	C	A	2: 154,429,979 (GRCm39)	A137S	possibly damaging	Het
Rasef	C	T	4: 73,698,756 (GRCm39)		probably benign	Het
Scpppq1	T	C	5: 104,222,741 (GRCm39)		probably benign	Het
Scrt2	C	T	2: 151,935,063 (GRCm39)	A72V	probably benign	Het
Sipa1l2	T	C	8: 126,177,101 (GRCm39)	E1171G	possibly damaging	Het
Slc26a8	T	C	17: 28,857,375 (GRCm39)	T923A	possibly damaging	Het
Slco1a6	T	C	6: 142,078,872 (GRCm39)	K141R	probably benign	Het
Slfn5	T	A	11: 82,849,492 (GRCm39)		probably null	Het
Sympk	A	T	7: 18,770,755 (GRCm39)	H282L	probably damaging	Het
Tnr	A	G	1: 159,751,677 (GRCm39)	Y1324C	probably damaging	Het
Topaz1	A	G	9: 122,577,600 (GRCm39)	N170S	possibly damaging	Het
Trav6-3	T	C	14: 53,666,219 (GRCm39)	M1T	probably null	Het
Trim66	A	G	7: 109,075,086 (GRCm39)	S392P	probably benign	Het
Ttn	T	C	2: 76,599,155 (GRCm39)	T10958A	probably damaging	Het
Ubr7	A	G	12: 102,734,494 (GRCm39)	K256R	probably benign	Het

Other mutations in Borcs5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1174:Borcs5	UTSW	6	134,687,096 (GRCm39)	missense	probably damaging	1.00
R1175:Borcs5	UTSW	6	134,687,096 (GRCm39)	missense	probably damaging	1.00
R1290:Borcs5	UTSW	6	134,621,331 (GRCm39)	missense	possibly damaging	0.63
R1951:Borcs5	UTSW	6	134,687,230 (GRCm39)	missense	unknown
R1953:Borcs5	UTSW	6	134,687,230 (GRCm39)	missense	unknown
R1972:Borcs5	UTSW	6	134,687,137 (GRCm39)	missense	probably damaging	0.99
R4378:Borcs5	UTSW	6	134,621,292 (GRCm39)	missense	probably benign
R5622:Borcs5	UTSW	6	134,663,086 (GRCm39)	critical splice donor site	probably null
R6899:Borcs5	UTSW	6	134,687,173 (GRCm39)	missense	probably benign	0.00
R7313:Borcs5	UTSW	6	134,687,143 (GRCm39)	missense	probably damaging	1.00
R7405:Borcs5	UTSW	6	134,662,945 (GRCm39)	missense	probably benign	0.09
R7555:Borcs5	UTSW	6	134,662,942 (GRCm39)	missense	probably benign	0.01
R8219:Borcs5	UTSW	6	134,621,313 (GRCm39)	missense	probably benign	0.01
R8944:Borcs5	UTSW	6	134,621,437 (GRCm39)	critical splice donor site	probably null
R9153:Borcs5	UTSW	6	134,618,108 (GRCm39)	intron	probably benign
Z1176:Borcs5	UTSW	6	134,687,086 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGGGTAAGCCGACTGTAATGTTTTG -3'
(R):5'- AAATTCAACTGTCCCAACTTCGG -3'

Sequencing Primer
(F):5'- GTCTGTTCACTTCCTGCAGATGG -3'
(R):5'- TACCACACTGGGAAGTCCATGTG -3'

Posted On

2018-06-06