Mutagenetix > Incidental Mutation

Incidental Mutation 'R0562:Ilvbl'

45958

Institutional Source

Beutler Lab

Gene Symbol

Ilvbl

Ensembl Gene

ENSMUSG00000032763

Gene Name

ilvB (bacterial acetolactate synthase)-like

Synonyms

MMRRC Submission

038753-MU

Accession Numbers

Essential gene?

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

Stock #

R0562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78410180-78420336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78419321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 499 (G499C)

Ref Sequence

ENSEMBL: ENSMUSP00000151263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040580] [ENSMUST00000105384] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218875] [ENSMUST00000218885] [ENSMUST00000220430]

AlphaFold

Q8BU33

Predicted Effect

probably benign
Transcript: ENSMUST00000040580

SMART Domains

Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	56	69	N/A	INTRINSIC
low complexity region	114	127	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	321	335	N/A	INTRINSIC
RhoGAP	411	601	1.49e-56	SMART
low complexity region	638	652	N/A	INTRINSIC
low complexity region	681	694	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105384
AA Change: G499C

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

SMART Domains

Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: G499C

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 damaging
Transcript: ENSMUST00000218215
AA Change: G499C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218670

Predicted Effect

probably damaging
Transcript: ENSMUST00000218875
AA Change: G499C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218885
AA Change: G499C

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

Predicted Effect

unknown
Transcript: ENSMUST00000219588
AA Change: W313L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219971

Predicted Effect

probably benign
Transcript: ENSMUST00000220430

Meta Mutation Damage Score

0.8803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	C	T	7: 131,027,518 (GRCm39)	Q63*	probably null	Het
Adam26b	A	T	8: 43,973,408 (GRCm39)	N531K	probably benign	Het
Agt	A	G	8: 125,286,014 (GRCm39)	I356T	probably benign	Het
Ankmy1	A	T	1: 92,827,413 (GRCm39)		probably benign	Het
Anxa3	C	T	5: 96,960,743 (GRCm39)	S49L	possibly damaging	Het
Arap3	C	A	18: 38,108,593 (GRCm39)	R1279L	probably damaging	Het
Azin1	A	G	15: 38,493,825 (GRCm39)	I266T	probably benign	Het
Btnl7-ps	T	C	17: 34,752,498 (GRCm39)		noncoding transcript	Het
Car5a	T	A	8: 122,671,469 (GRCm39)	T22S	probably benign	Het
Card6	A	G	15: 5,134,648 (GRCm39)	I185T	probably damaging	Het
Ccdc81	T	C	7: 89,552,437 (GRCm39)	D11G	probably benign	Het
Cep170b	T	C	12: 112,705,623 (GRCm39)	V1127A	probably benign	Het
Ces1h	T	C	8: 94,083,771 (GRCm39)	I390M	unknown	Het
Col9a1	T	A	1: 24,218,360 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Cyb561a3	T	C	19: 10,564,074 (GRCm39)	V138A	probably benign	Het
Dcaf1	T	C	9: 106,721,321 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,963,726 (GRCm39)	Y2516H	probably damaging	Het
Dsc2	T	A	18: 20,174,594 (GRCm39)	N521Y	probably damaging	Het
Dst	G	A	1: 34,267,062 (GRCm39)	E4835K	probably damaging	Het
Duox2	T	C	2: 122,120,080 (GRCm39)	E810G	probably damaging	Het
Dusp15	T	C	2: 152,793,268 (GRCm39)	N3S	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,436 (GRCm39)	D138G	unknown	Het
Epha4	T	C	1: 77,365,124 (GRCm39)	K625R	probably benign	Het
Fcgbpl1	G	A	7: 27,862,115 (GRCm39)	V2394I	probably benign	Het
Gata5	C	T	2: 179,969,552 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,252,227 (GRCm39)	N159S	probably damaging	Het
Hivep3	T	A	4: 119,953,751 (GRCm39)	M689K	probably benign	Het
Ift56	T	A	6: 38,378,064 (GRCm39)	V292E	probably damaging	Het
Inpp4b	T	C	8: 82,494,780 (GRCm39)	I65T	possibly damaging	Het
Jarid2	T	C	13: 45,055,835 (GRCm39)	V208A	probably damaging	Het
Kcnh4	T	C	11: 100,641,070 (GRCm39)	M460V	possibly damaging	Het
Klhl22	A	G	16: 17,610,488 (GRCm39)	N580D	probably benign	Het
Klk15	T	A	7: 43,588,269 (GRCm39)	C192*	probably null	Het
Klk1b9	A	G	7: 43,445,090 (GRCm39)	E194G	probably damaging	Het
Lama1	G	T	17: 68,122,954 (GRCm39)	G2779V	probably damaging	Het
Lmln	C	T	16: 32,937,455 (GRCm39)	R607*	probably null	Het
Maea	T	C	5: 33,529,645 (GRCm39)	V377A	probably benign	Het
Matk	A	T	10: 81,095,525 (GRCm39)	Y115F	probably benign	Het
Mettl18	A	G	1: 163,824,062 (GRCm39)	K128E	probably benign	Het
Mrps22	T	C	9: 98,474,746 (GRCm39)	H246R	probably benign	Het
Msln	A	T	17: 25,971,980 (GRCm39)	M79K	probably benign	Het
Myf6	G	A	10: 107,330,420 (GRCm39)	P49L	probably benign	Het
Nat1	C	T	8: 67,943,963 (GRCm39)	T113I	possibly damaging	Het
Ncor2	C	T	5: 125,162,093 (GRCm39)	V394M	unknown	Het
Oas1c	T	C	5: 120,943,669 (GRCm39)		probably benign	Het
Or8k21	T	A	2: 86,144,869 (GRCm39)	T254S	probably benign	Het
Otp	A	T	13: 95,013,917 (GRCm39)	T112S	probably damaging	Het
Pcdh7	A	G	5: 57,877,405 (GRCm39)	N320S	probably damaging	Het
Pdzd2	G	T	15: 12,592,364 (GRCm39)	F93L	probably damaging	Het
Phf20l1	A	G	15: 66,481,453 (GRCm39)	E283G	probably damaging	Het
Polr1e	T	C	4: 45,029,421 (GRCm39)	F342S	probably damaging	Het
Pp2d1	T	A	17: 53,846,196 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,664,291 (GRCm39)		probably null	Het
Reg3g	A	T	6: 78,444,471 (GRCm39)	H107Q	possibly damaging	Het
Rgl1	T	C	1: 152,415,696 (GRCm39)	K408E	probably damaging	Het
Samd4	T	C	14: 47,314,966 (GRCm39)	C309R	probably damaging	Het
Sestd1	C	A	2: 77,061,066 (GRCm39)	W104L	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,870,446 (GRCm39)	K80*	probably null	Het
Snx20	T	A	8: 89,356,630 (GRCm39)	Q62L	probably benign	Het
Spef1l	T	C	7: 139,557,026 (GRCm39)	M120V	probably benign	Het
Stk40	C	A	4: 126,032,594 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,885,584 (GRCm39)		probably benign	Het
Tcf23	C	T	5: 31,127,654 (GRCm39)	P152L	probably damaging	Het
Tex29	T	C	8: 11,894,138 (GRCm39)		probably benign	Het
Tjp3	A	G	10: 81,116,389 (GRCm39)	V235A	probably damaging	Het
Tns3	A	T	11: 8,443,262 (GRCm39)	I367N	possibly damaging	Het
Ttn	T	A	2: 76,543,255 (GRCm39)	M33244L	probably benign	Het
Ush2a	A	T	1: 188,089,044 (GRCm39)	N333I	probably damaging	Het
Usp34	T	C	11: 23,382,406 (GRCm39)		probably benign	Het
Vmn1r204	A	C	13: 22,740,848 (GRCm39)	S160R	probably benign	Het
Vmn2r75	C	T	7: 85,797,449 (GRCm39)	W788*	probably null	Het
Vwa5b1	T	C	4: 138,363,022 (GRCm39)		probably benign	Het
Zbtb7a	A	G	10: 80,984,163 (GRCm39)	E535G	probably benign	Het
Zfp1004	T	A	2: 150,034,494 (GRCm39)	C303S	probably damaging	Het
Zranb3	T	C	1: 127,964,295 (GRCm39)	D144G	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
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
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'- AGGAAACTCTGCCTGACAATGCAC -3'
(R):5'- CCCAGTCACCTTATGTCTGACGAAC -3'

Sequencing Primer
(F):5'- CTGACAATGCACTTCTTGTGG -3'
(R):5'- TGTCTGACGAACGTGTCAAAC -3'

Posted On

2013-06-11