Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Bivm'

677801

Institutional Source

Beutler Lab

Gene Symbol

Bivm

Ensembl Gene

ENSMUSG00000041684

Gene Name

basic, immunoglobulin-like variable motif containing

Synonyms

MMRRC Submission

068696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44158117-44183930 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 44158439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000035991] [ENSMUST00000065767] [ENSMUST00000114709] [ENSMUST00000129068] [ENSMUST00000152643] [ENSMUST00000155917]

AlphaFold

Q8CBX9

Predicted Effect

probably benign
Transcript: ENSMUST00000027213

SMART Domains

Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	400	1.65e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035991

SMART Domains

Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684

Domain	Start	End	E-Value	Type
low complexity region	117	129	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC
Blast:XPGN	456	501	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000065767

SMART Domains

Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	470	4.81e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114709

SMART Domains

Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684

Domain	Start	End	E-Value	Type
low complexity region	117	129	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC
Blast:XPGN	456	501	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129068

Predicted Effect

probably benign
Transcript: ENSMUST00000152643

SMART Domains

Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	133	9.21e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155917

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cdin1	T	A	2: 115,505,265 (GRCm39)	S179T	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,279,178 (GRCm39)	M236V	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Marchf6	A	T	15: 31,498,850 (GRCm39)	V149E	probably damaging	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or2bd2	T	C	7: 6,443,285 (GRCm39)	C129R	probably damaging	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf13	T	G	3: 57,714,520 (GRCm39)	I193S	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	probably damaging	Het

Other mutations in Bivm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Bivm	APN	1	44,168,451 (GRCm39)	missense	probably damaging	1.00
IGL01384:Bivm	APN	1	44,165,907 (GRCm39)	missense	possibly damaging	0.86
IGL01552:Bivm	APN	1	44,165,933 (GRCm39)	missense	probably benign	0.40
IGL01736:Bivm	APN	1	44,180,973 (GRCm39)	missense	probably damaging	1.00
IGL02332:Bivm	APN	1	44,167,880 (GRCm39)	unclassified	probably benign
IGL02704:Bivm	APN	1	44,165,606 (GRCm39)	missense	probably benign
IGL02859:Bivm	APN	1	44,176,159 (GRCm39)	nonsense	probably null
IGL02939:Bivm	APN	1	44,182,120 (GRCm39)	missense	probably benign	0.03
IGL03265:Bivm	APN	1	44,181,005 (GRCm39)	missense	probably damaging	1.00
R0456:Bivm	UTSW	1	44,165,969 (GRCm39)	missense	probably damaging	1.00
R1172:Bivm	UTSW	1	44,165,942 (GRCm39)	missense	probably benign	0.04
R1173:Bivm	UTSW	1	44,165,942 (GRCm39)	missense	probably benign	0.04
R1174:Bivm	UTSW	1	44,165,942 (GRCm39)	missense	probably benign	0.04
R1177:Bivm	UTSW	1	44,182,123 (GRCm39)	missense	probably benign	0.28
R1350:Bivm	UTSW	1	44,165,863 (GRCm39)	missense	possibly damaging	0.88
R1611:Bivm	UTSW	1	44,165,907 (GRCm39)	missense	possibly damaging	0.92
R2518:Bivm	UTSW	1	44,168,775 (GRCm39)	missense	probably damaging	0.96
R3735:Bivm	UTSW	1	44,165,594 (GRCm39)	missense	probably benign	0.07
R4290:Bivm	UTSW	1	44,177,793 (GRCm39)	missense	probably damaging	1.00
R4292:Bivm	UTSW	1	44,177,793 (GRCm39)	missense	probably damaging	1.00
R4293:Bivm	UTSW	1	44,177,793 (GRCm39)	missense	probably damaging	1.00
R4294:Bivm	UTSW	1	44,177,793 (GRCm39)	missense	probably damaging	1.00
R4849:Bivm	UTSW	1	44,182,033 (GRCm39)	missense	possibly damaging	0.70
R5204:Bivm	UTSW	1	44,177,738 (GRCm39)	missense	probably damaging	0.96
R5912:Bivm	UTSW	1	44,165,573 (GRCm39)	nonsense	probably null
R6045:Bivm	UTSW	1	44,158,233 (GRCm39)	start gained	probably benign
R6216:Bivm	UTSW	1	44,166,028 (GRCm39)	critical splice donor site	probably null
R6836:Bivm	UTSW	1	44,182,296 (GRCm39)	missense	possibly damaging	0.88
R7120:Bivm	UTSW	1	44,165,606 (GRCm39)	missense	probably benign
R7817:Bivm	UTSW	1	44,165,561 (GRCm39)	missense	probably benign	0.01
R9110:Bivm	UTSW	1	44,168,526 (GRCm39)	critical splice donor site	probably null
R9128:Bivm	UTSW	1	44,167,949 (GRCm39)	missense	probably null	1.00
R9511:Bivm	UTSW	1	44,182,250 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CAACCTTAAATACTACAGTTGCGC -3'
(R):5'- TCTCCTCAGAGACTCAGCTC -3'

Sequencing Primer
(F):5'- GCAACTAGCATGTCTGGAGTCAC -3'
(R):5'- TCGACCCAGATCCTTCCAGG -3'

Posted On

2021-08-02