Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Ilvbl'

163332

Institutional Source

Beutler Lab

Gene Symbol

Ilvbl

Ensembl Gene

ENSMUSG00000032763

Gene Name

ilvB (bacterial acetolactate synthase)-like

Synonyms

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78410180-78420336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78412564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 95 (T95K)

Ref Sequence

ENSEMBL: ENSMUSP00000151300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105384] [ENSMUST00000218061] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218763] [ENSMUST00000218787] [ENSMUST00000218875] [ENSMUST00000218885] [ENSMUST00000220430]

AlphaFold

Q8BU33

Predicted Effect

probably damaging
Transcript: ENSMUST00000105384
AA Change: T95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: T95K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:TPP_enzyme_N	52	220	1.4e-53	PFAM
Pfam:TPP_enzyme_M	273	405	2.1e-16	PFAM
Pfam:TPP_enzyme_C	467	618	3.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218061

Predicted Effect

probably damaging
Transcript: ENSMUST00000218215
AA Change: T95K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218271
AA Change: T95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000218763

Predicted Effect

probably damaging
Transcript: ENSMUST00000218787
AA Change: T95K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218875
AA Change: T95K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218885
AA Change: T95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220430
AA Change: T95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000219588

Meta Mutation Damage Score

0.9570

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	Het

Other mutations in Ilvbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ilvbl	APN	10	78,419,739 (GRCm39)	missense	probably damaging	1.00
IGL00962:Ilvbl	APN	10	78,419,172 (GRCm39)	missense	possibly damaging	0.95
IGL01655:Ilvbl	APN	10	78,413,167 (GRCm39)	splice site	probably benign
IGL01657:Ilvbl	APN	10	78,412,602 (GRCm39)	missense	possibly damaging	0.57
IGL01682:Ilvbl	APN	10	78,412,941 (GRCm39)	splice site	probably benign
IGL01768:Ilvbl	APN	10	78,419,127 (GRCm39)	missense	possibly damaging	0.80
IGL01982:Ilvbl	APN	10	78,414,856 (GRCm39)	missense	probably damaging	1.00
IGL02207:Ilvbl	APN	10	78,419,536 (GRCm39)	critical splice donor site	probably null
IGL02561:Ilvbl	APN	10	78,412,978 (GRCm39)	missense	probably benign	0.01
IGL02985:Ilvbl	APN	10	78,414,901 (GRCm39)	missense	probably benign	0.00
R0398:Ilvbl	UTSW	10	78,415,373 (GRCm39)	missense	probably damaging	0.99
R0557:Ilvbl	UTSW	10	78,419,321 (GRCm39)	nonsense	probably null
R0562:Ilvbl	UTSW	10	78,419,321 (GRCm39)	missense	probably damaging	1.00
R0583:Ilvbl	UTSW	10	78,419,101 (GRCm39)	missense	probably damaging	0.99
R1381:Ilvbl	UTSW	10	78,412,430 (GRCm39)	missense	probably damaging	1.00
R1537:Ilvbl	UTSW	10	78,415,565 (GRCm39)	missense	probably benign	0.31
R1862:Ilvbl	UTSW	10	78,419,958 (GRCm39)	missense	probably benign	0.00
R2474:Ilvbl	UTSW	10	78,412,558 (GRCm39)	missense	probably damaging	1.00
R2876:Ilvbl	UTSW	10	78,418,890 (GRCm39)	missense	probably benign
R3621:Ilvbl	UTSW	10	78,413,014 (GRCm39)	missense	probably damaging	1.00
R3811:Ilvbl	UTSW	10	78,414,869 (GRCm39)	missense	probably benign
R4591:Ilvbl	UTSW	10	78,419,139 (GRCm39)	missense	probably benign	0.01
R5040:Ilvbl	UTSW	10	78,419,152 (GRCm39)	missense	probably damaging	1.00
R5449:Ilvbl	UTSW	10	78,412,862 (GRCm39)	critical splice donor site	probably null
R5795:Ilvbl	UTSW	10	78,412,978 (GRCm39)	missense	probably benign	0.01
R5910:Ilvbl	UTSW	10	78,412,947 (GRCm39)	missense	probably benign
R6746:Ilvbl	UTSW	10	78,413,057 (GRCm39)	missense	possibly damaging	0.48
R7019:Ilvbl	UTSW	10	78,414,920 (GRCm39)	missense	probably damaging	0.96
R7223:Ilvbl	UTSW	10	78,419,530 (GRCm39)	missense	probably benign	0.31
R7494:Ilvbl	UTSW	10	78,414,857 (GRCm39)	missense	possibly damaging	0.76
R7576:Ilvbl	UTSW	10	78,419,531 (GRCm39)	missense	possibly damaging	0.45
R7727:Ilvbl	UTSW	10	78,412,500 (GRCm39)	missense	probably benign	0.00
R7777:Ilvbl	UTSW	10	78,413,085 (GRCm39)	critical splice donor site	probably null
R7800:Ilvbl	UTSW	10	78,419,809 (GRCm39)	missense	possibly damaging	0.48
R8082:Ilvbl	UTSW	10	78,419,987 (GRCm39)	missense	probably damaging	0.98
R8697:Ilvbl	UTSW	10	78,419,196 (GRCm39)	nonsense	probably null
R9713:Ilvbl	UTSW	10	78,412,489 (GRCm39)	missense	probably benign	0.09
Z1177:Ilvbl	UTSW	10	78,416,958 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTTGACCCAGGTGGACAAGAC -3'
(R):5'- TTGCAGAGTGGCCTGAACAGAGAC -3'

Sequencing Primer
(F):5'- ACAAGCATCCGGCATGG -3'
(R):5'- CATCTGATCAATGGCCTGAAGTG -3'

Posted On

2014-03-28