Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Borcs5'

636546

Institutional Source

Beutler Lab

Gene Symbol

Borcs5

Ensembl Gene

ENSMUSG00000042992

Gene Name

BLOC-1 related complex subunit 5

Synonyms

5830457J20Rik, Loh12cr1

MMRRC Submission

067659-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134616475-134688147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134621313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 27 (H27R)

Ref Sequence

ENSEMBL: ENSMUSP00000054913 (fasta)

Gene Model

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

AlphaFold

Q9D920

Predicted Effect

probably benign
Transcript: ENSMUST00000062755
AA Change: H27R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: H27R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166591
AA Change: H28R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: H28R

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atg9b	A	G	5: 24,591,330 (GRCm39)	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Gulp1	A	G	1: 44,793,501 (GRCm39)		probably null	Het
Kcnn1	T	C	8: 71,305,499 (GRCm39)	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Or8c16	A	C	9: 38,130,668 (GRCm39)	D183A	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,647,708 (GRCm39)	F279S	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	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
R6543:Borcs5	UTSW	6	134,687,143 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGAGACAGCACCACTCTTG -3'
(R):5'- GTTTGTACATAAGCTTCCCCAG -3'

Sequencing Primer
(F):5'- CAGAAAATCTTTCACTGGGCCTGG -3'
(R):5'- GCAAGTCCAGATATCACAGAAGTCTC -3'

Posted On

2020-07-13