Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Bivm'

534538

Institutional Source

Beutler Lab

Gene Symbol

Bivm

Ensembl Gene

ENSMUSG00000041684

Gene Name

basic, immunoglobulin-like variable motif containing

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44118957-44144770 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44143136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 501 (N501K)

Ref Sequence

ENSEMBL: ENSMUSP00000110357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027214] [ENSMUST00000035991] [ENSMUST00000114709]

AlphaFold

Q8CBX9

Predicted Effect

probably benign
Transcript: ENSMUST00000027214

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048

Domain	Start	End	E-Value	Type
XPGN	1	98	3.49e-50	SMART
low complexity region	104	115	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC
low complexity region	305	326	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC
low complexity region	641	650	N/A	INTRINSIC
XPGI	776	845	1.02e-33	SMART
HhH2	847	880	2.94e-11	SMART
low complexity region	1130	1140	N/A	INTRINSIC
low complexity region	1155	1169	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035991
AA Change: N501K

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
AA Change: N501K

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

possibly damaging
Transcript: ENSMUST00000114709
AA Change: N501K

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
AA Change: N501K

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

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
AU018091	T	G	7: 3,164,156	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Olfr539	A	C	7: 140,668,180	I298L	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,835,195	S352G	probably benign	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,321,632	V451I	probably benign	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	probably damaging	Het

Other mutations in Bivm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Bivm	APN	1	44129291	missense	probably damaging	1.00
IGL01384:Bivm	APN	1	44126747	missense	possibly damaging	0.86
IGL01552:Bivm	APN	1	44126773	missense	probably benign	0.40
IGL01736:Bivm	APN	1	44141813	missense	probably damaging	1.00
IGL02332:Bivm	APN	1	44128720	unclassified	probably benign
IGL02704:Bivm	APN	1	44126446	missense	probably benign
IGL02859:Bivm	APN	1	44136999	nonsense	probably null
IGL02939:Bivm	APN	1	44142960	missense	probably benign	0.03
IGL03265:Bivm	APN	1	44141845	missense	probably damaging	1.00
R0456:Bivm	UTSW	1	44126809	missense	probably damaging	1.00
R1172:Bivm	UTSW	1	44126782	missense	probably benign	0.04
R1173:Bivm	UTSW	1	44126782	missense	probably benign	0.04
R1174:Bivm	UTSW	1	44126782	missense	probably benign	0.04
R1177:Bivm	UTSW	1	44142963	missense	probably benign	0.28
R1350:Bivm	UTSW	1	44126703	missense	possibly damaging	0.88
R1611:Bivm	UTSW	1	44126747	missense	possibly damaging	0.92
R2518:Bivm	UTSW	1	44129615	missense	probably damaging	0.96
R3735:Bivm	UTSW	1	44126434	missense	probably benign	0.07
R4290:Bivm	UTSW	1	44138633	missense	probably damaging	1.00
R4292:Bivm	UTSW	1	44138633	missense	probably damaging	1.00
R4293:Bivm	UTSW	1	44138633	missense	probably damaging	1.00
R4294:Bivm	UTSW	1	44138633	missense	probably damaging	1.00
R4849:Bivm	UTSW	1	44142873	missense	possibly damaging	0.70
R5204:Bivm	UTSW	1	44138578	missense	probably damaging	0.96
R5912:Bivm	UTSW	1	44126413	nonsense	probably null
R6045:Bivm	UTSW	1	44119073	start gained	probably benign
R6216:Bivm	UTSW	1	44126868	critical splice donor site	probably null
R7120:Bivm	UTSW	1	44126446	missense	probably benign
R7817:Bivm	UTSW	1	44126401	missense	probably benign	0.01
R8893:Bivm	UTSW	1	44119279	intron	probably benign
R9110:Bivm	UTSW	1	44129366	critical splice donor site	probably null
R9128:Bivm	UTSW	1	44128789	missense	probably null	1.00
R9511:Bivm	UTSW	1	44143090	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACACATGTCCCGGGAATTGC -3'
(R):5'- ACTTTAGAAGGGCGGGGTTC -3'

Sequencing Primer
(F):5'- TCCCGGGAATTGCCAAATCTG -3'
(R):5'- GCCTGTATATTTGAAGCCAACC -3'

Posted On

2018-09-12