Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Ilvbl'

182739

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ilvbl

Ensembl Gene

ENSMUSG00000032763

Gene Name

ilvB (bacterial acetolactate synthase)-like

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

78410180-78420336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78414856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 240 (Y240H)

Ref Sequence

ENSEMBL: ENSMUSP00000151521 (fasta)

Gene Model

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

AlphaFold

Q8BU33

Predicted Effect

probably damaging
Transcript: ENSMUST00000105384
AA Change: Y240H

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

SMART Domains

Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: Y240H

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: Y240H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218271
AA Change: Y240H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218670

Predicted Effect

probably benign
Transcript: ENSMUST00000218763

Predicted Effect

probably benign
Transcript: ENSMUST00000218787

Predicted Effect

probably damaging
Transcript: ENSMUST00000218885
AA Change: Y240H

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

Predicted Effect

unknown
Transcript: ENSMUST00000219588
AA Change: Y111H

Predicted Effect

probably damaging
Transcript: ENSMUST00000218875
AA Change: Y240H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220430
AA Change: Y240H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219971

Coding Region Coverage

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Acp1	A	T	12: 30,961,491 (GRCm39)	L14H	possibly damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,711,252 (GRCm39)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,451,487 (GRCm39)	S516P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp1r15a	T	C	7: 45,173,803 (GRCm39)		probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	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
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
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

Posted On

2014-05-07