Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02190:Gcn1l1'

283819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gcn1l1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 general control of amino-acid synthesis 1-like 1 (yeast)

Synonyms

GCN1L, G431004K08Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

115565254-115622654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115614124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 2100 (V2100L)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064454]

AlphaFold

E9PVA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064454
AA Change: V2100L

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

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: V2100L

Domain	Start	End	E-Value	Type
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	117	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
Pfam:DUF3554	357	705	2e-61	PFAM
coiled coil region	806	866	N/A	INTRINSIC
Blast:ARM	1028	1068	6e-11	BLAST
coiled coil region	1180	1203	N/A	INTRINSIC
low complexity region	1457	1466	N/A	INTRINSIC
low complexity region	1501	1510	N/A	INTRINSIC
ARM	1527	1567	3.69e1	SMART
Blast:ARM	1602	1644	1e-5	BLAST
Blast:EZ_HEAT	1671	1704	1e-7	BLAST
low complexity region	1926	1934	N/A	INTRINSIC
low complexity region	1956	1972	N/A	INTRINSIC
ARM	2034	2070	9.27e1	SMART
low complexity region	2326	2334	N/A	INTRINSIC
ARM	2416	2455	2.16e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094427

SMART Domains

Protein: ENSMUSP00000091994
Gene: ENSMUSG00000041638

Domain	Start	End	E-Value	Type
Pfam:HEAT	42	72	5.8e-5	PFAM
low complexity region	310	318	N/A	INTRINSIC
Pfam:HEAT_EZ	326	374	2.2e-5	PFAM
Blast:EZ_HEAT	403	439	1e-15	BLAST
Pfam:HEAT_EZ	703	757	1.3e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139933

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Gcn1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Gcn1l1	APN	5	115588143	splice site	probably benign
IGL00974:Gcn1l1	APN	5	115613793	missense	possibly damaging	0.88
IGL01566:Gcn1l1	APN	5	115611058	missense	probably damaging	1.00
IGL01843:Gcn1l1	APN	5	115619700	missense	probably damaging	1.00
IGL01885:Gcn1l1	APN	5	115576115	splice site	probably null
IGL02081:Gcn1l1	APN	5	115585871	missense	probably damaging	1.00
IGL02118:Gcn1l1	APN	5	115610879	missense	probably damaging	1.00
IGL02150:Gcn1l1	APN	5	115609868	missense	probably damaging	1.00
IGL02219:Gcn1l1	APN	5	115613767	missense	possibly damaging	0.68
IGL02507:Gcn1l1	APN	5	115585881	missense	probably benign	0.11
IGL02644:Gcn1l1	APN	5	115575191	missense	probably benign
IGL02678:Gcn1l1	APN	5	115613755	missense	probably damaging	0.99
IGL02748:Gcn1l1	APN	5	115610800	splice site	probably null
IGL02755:Gcn1l1	APN	5	115604006	splice site	probably null
IGL02896:Gcn1l1	APN	5	115619648	splice site	probably benign
cusp	UTSW	5	115611060	missense	probably damaging	1.00
farthing	UTSW	5	115576108	splice site	probably benign
IGL03147:Gcn1l1	UTSW	5	115610858	missense	possibly damaging	0.78
R0362:Gcn1l1	UTSW	5	115576108	splice site	probably benign
R0540:Gcn1l1	UTSW	5	115588956	missense	probably benign	0.00
R0569:Gcn1l1	UTSW	5	115595059	missense	probably benign	0.00
R0570:Gcn1l1	UTSW	5	115592421	missense	probably damaging	1.00
R0584:Gcn1l1	UTSW	5	115595015	missense	probably damaging	1.00
R0630:Gcn1l1	UTSW	5	115581089	missense	probably benign	0.06
R0656:Gcn1l1	UTSW	5	115589303	missense	probably benign	0.27
R0801:Gcn1l1	UTSW	5	115591006	missense	probably benign	0.12
R0890:Gcn1l1	UTSW	5	115579793	missense	possibly damaging	0.77
R1400:Gcn1l1	UTSW	5	115614161	missense	probably damaging	1.00
R1485:Gcn1l1	UTSW	5	115574617	missense	probably benign
R1574:Gcn1l1	UTSW	5	115615552	missense	probably benign
R1574:Gcn1l1	UTSW	5	115615552	missense	probably benign
R1673:Gcn1l1	UTSW	5	115582297	missense	probably benign
R1894:Gcn1l1	UTSW	5	115589115	missense	probably damaging	1.00
R2114:Gcn1l1	UTSW	5	115598825	missense	probably benign	0.35
R2116:Gcn1l1	UTSW	5	115598825	missense	probably benign	0.35
R2117:Gcn1l1	UTSW	5	115598825	missense	probably benign	0.35
R2152:Gcn1l1	UTSW	5	115609829	missense	probably benign	0.07
R2162:Gcn1l1	UTSW	5	115592132	missense	probably benign	0.18
R2216:Gcn1l1	UTSW	5	115593661	missense	probably benign
R2218:Gcn1l1	UTSW	5	115619661	missense	probably benign	0.04
R2278:Gcn1l1	UTSW	5	115611175	missense	probably damaging	1.00
R2280:Gcn1l1	UTSW	5	115612730	missense	probably damaging	1.00
R3719:Gcn1l1	UTSW	5	115579817	missense	probably benign	0.03
R3729:Gcn1l1	UTSW	5	115583394	splice site	probably benign
R3833:Gcn1l1	UTSW	5	115592132	missense	probably benign	0.18
R3932:Gcn1l1	UTSW	5	115587834	missense	probably benign	0.11
R4067:Gcn1l1	UTSW	5	115599088	missense	probably damaging	1.00
R4152:Gcn1l1	UTSW	5	115613354	critical splice acceptor site	probably null
R4179:Gcn1l1	UTSW	5	115588050	missense	probably benign	0.00
R4292:Gcn1l1	UTSW	5	115576148	missense	possibly damaging	0.49
R4350:Gcn1l1	UTSW	5	115603330	missense	probably damaging	1.00
R4493:Gcn1l1	UTSW	5	115594144	missense	probably benign
R4672:Gcn1l1	UTSW	5	115606520	missense	probably damaging	1.00
R4749:Gcn1l1	UTSW	5	115614402	missense	probably benign
R4753:Gcn1l1	UTSW	5	115616478	missense	probably benign
R4826:Gcn1l1	UTSW	5	115593693	missense	probably benign
R4873:Gcn1l1	UTSW	5	115576170	missense	possibly damaging	0.92
R4875:Gcn1l1	UTSW	5	115576170	missense	possibly damaging	0.92
R4932:Gcn1l1	UTSW	5	115592144	missense	probably benign	0.00
R4992:Gcn1l1	UTSW	5	115599166	missense	probably benign	0.29
R5049:Gcn1l1	UTSW	5	115606671	missense	probably damaging	1.00
R5211:Gcn1l1	UTSW	5	115619312	missense	probably benign	0.04
R5226:Gcn1l1	UTSW	5	115588067	missense	probably benign	0.01
R5338:Gcn1l1	UTSW	5	115583403	missense	probably benign	0.00
R5914:Gcn1l1	UTSW	5	115610135	synonymous	silent
R5932:Gcn1l1	UTSW	5	115592376	missense	possibly damaging	0.77
R6422:Gcn1l1	UTSW	5	115609544	missense	probably damaging	1.00
R6435:Gcn1l1	UTSW	5	115611022	critical splice acceptor site	probably null
R6607:Gcn1l1	UTSW	5	115609478	missense	probably damaging	0.98
R6724:Gcn1l1	UTSW	5	115609158	splice site	probably null
R6861:Gcn1l1	UTSW	5	115611049	missense	probably benign
R6875:Gcn1l1	UTSW	5	115588110	missense	probably damaging	1.00
R6910:Gcn1l1	UTSW	5	115606538	missense	probably benign	0.42
R6975:Gcn1l1	UTSW	5	115613459	missense	probably damaging	1.00
R7027:Gcn1l1	UTSW	5	115616546	critical splice donor site	probably null
R7038:Gcn1l1	UTSW	5	115611144	missense	probably damaging	1.00
R7171:Gcn1l1	UTSW	5	115590293	missense	probably benign	0.02
R7276:Gcn1l1	UTSW	5	115611060	missense	probably damaging	1.00
R7456:Gcn1l1	UTSW	5	115604946	nonsense	probably null
R7473:Gcn1l1	UTSW	5	115581804	missense	probably benign	0.09
R7517:Gcn1l1	UTSW	5	115619696	missense	probably benign	0.01
R7714:Gcn1l1	UTSW	5	115595300	missense	probably damaging	0.97
R7752:Gcn1l1	UTSW	5	115615568	missense	probably damaging	1.00
R7812:Gcn1l1	UTSW	5	115593692	missense	possibly damaging	0.91
R7922:Gcn1l1	UTSW	5	115614468	missense	probably benign
R8070:Gcn1l1	UTSW	5	115588998	missense	probably benign	0.09
R8218:Gcn1l1	UTSW	5	115581529	missense	probably benign	0.00
R8329:Gcn1l1	UTSW	5	115609862	missense	probably damaging	0.99
R8413:Gcn1l1	UTSW	5	115579639	missense	probably benign	0.00
R8795:Gcn1l1	UTSW	5	115614395	missense	probably benign	0.02
R8802:Gcn1l1	UTSW	5	115609883	missense	probably damaging	1.00
R8899:Gcn1l1	UTSW	5	115579161	missense	probably benign	0.04
R8946:Gcn1l1	UTSW	5	115595345	missense	probably benign	0.02
R8963:Gcn1l1	UTSW	5	115589094	missense	probably benign	0.25
R9006:Gcn1l1	UTSW	5	115581507	missense	probably benign	0.22
R9163:Gcn1l1	UTSW	5	115604885	missense	probably benign
R9177:Gcn1l1	UTSW	5	115581808	missense	probably benign	0.35
R9187:Gcn1l1	UTSW	5	115614118	missense	probably damaging	1.00
R9411:Gcn1l1	UTSW	5	115595039	missense	possibly damaging	0.87
R9541:Gcn1l1	UTSW	5	115616357	missense	probably benign	0.00
R9574:Gcn1l1	UTSW	5	115575282	missense	possibly damaging	0.89
Z1177:Gcn1l1	UTSW	5	115614149	missense	probably damaging	0.99
Z1191:Gcn1l1	UTSW	5	115575293	missense	possibly damaging	0.76

Posted On

2015-04-16