Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Ilvbl'

595570

Institutional Source

Beutler Lab

Gene Symbol

Ilvbl

Ensembl Gene

ENSMUSG00000032763

Gene Name

ilvB (bacterial acetolactate synthase)-like

Synonyms

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78410180-78420336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78412500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 74 (V74I)

Ref Sequence

ENSEMBL: ENSMUSP00000101023 (fasta)

Gene Model

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

AlphaFold

Q8BU33

Predicted Effect

probably benign
Transcript: ENSMUST00000105384
AA Change: V74I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: V74I

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
AA Change: V74I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000218215
AA Change: V74I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000218271
AA Change: V74I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000218763

Predicted Effect

probably benign
Transcript: ENSMUST00000218787
AA Change: V74I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000218875
AA Change: V74I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000218885
AA Change: V74I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000219588

Predicted Effect

probably benign
Transcript: ENSMUST00000220430
AA Change: V74I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	T	16: 85,696,854 (GRCm39)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,746,007 (GRCm39)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,678,346 (GRCm39)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,202,148 (GRCm39)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,790,163 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,744,974 (GRCm39)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,275,162 (GRCm39)	E234*	probably null	Het
Cemip2	C	T	19: 21,807,321 (GRCm39)	L917F	probably benign	Het
Cfap65	T	C	1: 74,965,784 (GRCm39)	T409A	probably benign	Het
Chst5	A	T	8: 112,617,557 (GRCm39)	I21N	probably benign	Het
Cldn20	T	C	17: 3,583,030 (GRCm39)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,506,514 (GRCm39)	M269V	unknown	Het
Dgkh	A	G	14: 78,832,585 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,656,242 (GRCm39)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,731 (GRCm39)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Fsd1	T	G	17: 56,295,150 (GRCm39)	D46E	probably benign	Het
Gabra1	T	C	11: 42,024,418 (GRCm39)	D419G	probably damaging	Het
Golga4	T	A	9: 118,377,770 (GRCm39)	D458E	probably damaging	Het
Grm6	C	A	11: 50,742,369 (GRCm39)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,698,339 (GRCm39)	S63R	probably damaging	Het
Kcng2	C	T	18: 80,339,305 (GRCm39)	V328M	probably benign	Het
Kpna7	T	C	5: 144,941,855 (GRCm39)	E145G	probably benign	Het
Krt81	A	G	15: 101,357,448 (GRCm39)	V428A	probably damaging	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lrpprc	T	C	17: 85,084,375 (GRCm39)	S113G	probably benign	Het
Mboat1	A	C	13: 30,410,289 (GRCm39)	M249L	probably benign	Het
Meltf	T	C	16: 31,702,612 (GRCm39)	V113A	probably damaging	Het
Muc16	T	A	9: 18,571,538 (GRCm39)	H327L	unknown	Het
Myh1	A	G	11: 67,106,748 (GRCm39)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Naga	C	A	15: 82,214,348 (GRCm39)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,291,162 (GRCm39)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,824,793 (GRCm39)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm39)	V142A	possibly damaging	Het
Or5g23	A	G	2: 85,438,751 (GRCm39)	F168L	possibly damaging	Het
Or8u3-ps	A	T	2: 85,952,840 (GRCm39)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,828,098 (GRCm39)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,547,081 (GRCm39)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,631,506 (GRCm39)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,779,971 (GRCm39)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,669,723 (GRCm39)	F131L	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Rab28	A	G	5: 41,865,313 (GRCm39)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,291,260 (GRCm39)	Q209K	probably benign	Het
Schip1	G	A	3: 67,972,317 (GRCm39)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,184,477 (GRCm39)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,422,193 (GRCm39)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 62,122,651 (GRCm39)	I471F	probably benign	Het
Slamf1	G	A	1: 171,602,467 (GRCm39)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,574,871 (GRCm39)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,263,446 (GRCm39)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,895,822 (GRCm39)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,373,019 (GRCm39)	R228C	probably damaging	Het
Sv2c	A	G	13: 96,113,203 (GRCm39)	I582T	possibly damaging	Het
Tamm41	C	T	6: 114,993,139 (GRCm39)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,761,623 (GRCm39)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,831,613 (GRCm39)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,923,731 (GRCm39)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,947,496 (GRCm39)	F942L	probably benign	Het
Uba2	C	T	7: 33,850,275 (GRCm39)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,440,873 (GRCm39)	N416K	probably benign	Het
Uevld	T	C	7: 46,593,553 (GRCm39)	N233S	probably benign	Het
Upp2	G	A	2: 58,664,160 (GRCm39)	M142I	possibly damaging	Het
Vps52	T	A	17: 34,181,108 (GRCm39)	V450D	probably benign	Het
Wdr31	A	T	4: 62,378,873 (GRCm39)	F118Y	probably damaging	Het
Zfp110	T	A	7: 12,582,922 (GRCm39)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,293,457 (GRCm39)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,108,379 (GRCm39)	I235V	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
R1484:Ilvbl	UTSW	10	78,412,564 (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
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'- GTCAGTGTACCCTTCTCTGAATTG -3'
(R):5'- TCTCATTCACAGGGGCCATG -3'

Sequencing Primer
(F):5'- ACCAGAATCTAAGTTCGTCTGTC -3'
(R):5'- ATTCACAGGGGCCATGTCACTG -3'

Posted On

2019-11-12