Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Gcn1'

579259

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

045547-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115719863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 373 (V373M)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably benign
Transcript: ENSMUST00000064454
AA Change: V373M

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: V373M

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

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,965,960 (GRCm39)		probably null	Het
A630095N17Rik	G	A	1: 75,208,675 (GRCm39)	T15I	unknown	Het
Actr1b	A	G	1: 36,748,900 (GRCm39)	V12A	probably benign	Het
Add1	A	G	5: 34,776,697 (GRCm39)	T473A	possibly damaging	Het
Akap11	A	T	14: 78,751,328 (GRCm39)	V353E		Het
Alcam	G	A	16: 52,272,882 (GRCm39)		probably benign	Het
Alpi	A	G	1: 87,027,369 (GRCm39)		probably null	Het
Ap3s2	A	G	7: 79,565,779 (GRCm39)	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,037,886 (GRCm39)	K174E	probably benign	Het
Bbox1	A	T	2: 110,095,843 (GRCm39)	S374T	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp2	T	C	11: 78,157,941 (GRCm39)	S368P	possibly damaging	Het
Bmp2k	A	G	5: 97,204,871 (GRCm39)	N402S	probably benign	Het
Bmper	C	A	9: 23,286,926 (GRCm39)	A284D	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Bpifb2	A	T	2: 153,723,116 (GRCm39)	H124L	possibly damaging	Het
Bsn	C	T	9: 107,989,449 (GRCm39)	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,607,018 (GRCm39)	D67V	probably damaging	Het
Catsperg1	A	G	7: 28,894,903 (GRCm39)	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,779 (GRCm39)	E252K	probably damaging	Het
Cep55	G	A	19: 38,058,384 (GRCm39)	E326K	probably damaging	Het
Cfap58	T	A	19: 47,963,064 (GRCm39)	Y491*	probably null	Het
Cpeb2	T	C	5: 43,434,848 (GRCm39)	S747P		Het
Cryz	T	A	3: 154,312,157 (GRCm39)	S85T	probably benign	Het
D2hgdh	T	C	1: 93,765,800 (GRCm39)	V367A	probably damaging	Het
Dgkh	T	C	14: 78,836,483 (GRCm39)	N703S	probably benign	Het
Dnah11	T	C	12: 117,866,911 (GRCm39)	S4077G	probably benign	Het
Dnah14	A	G	1: 181,579,704 (GRCm39)	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,382,484 (GRCm39)	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,526,370 (GRCm39)	D804G	probably damaging	Het
Ell2	A	G	13: 75,898,154 (GRCm39)	E143G	probably damaging	Het
Exoc2	A	G	13: 31,006,613 (GRCm39)		probably null	Het
Fahd2a	A	T	2: 127,282,376 (GRCm39)	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,460,689 (GRCm39)	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,531,405 (GRCm39)	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,387,990 (GRCm39)	V170I	probably benign	Het
Gm19965	A	G	1: 116,749,602 (GRCm39)	T428A	unknown	Het
Gm4792	A	G	10: 94,129,730 (GRCm39)	I124T	unknown	Het
Grik2	A	T	10: 48,989,618 (GRCm39)	C804S	probably benign	Het
Heatr6	T	A	11: 83,672,217 (GRCm39)	I1075N	probably damaging	Het
Hunk	G	A	16: 90,250,588 (GRCm39)	A211T	probably damaging	Het
Ighe	T	C	12: 113,234,976 (GRCm39)	I395V	probably damaging	Het
Ino80e	A	T	7: 126,456,484 (GRCm39)	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,408,534 (GRCm39)	Y305C	probably benign	Het
Insrr	T	A	3: 87,711,838 (GRCm39)		probably null	Het
Itgae	T	G	11: 73,031,504 (GRCm39)	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,705,141 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,006,630 (GRCm39)	K80M	probably benign	Het
Map2	A	T	1: 66,454,617 (GRCm39)	D1169V	probably damaging	Het
Mpst	G	T	15: 78,297,726 (GRCm39)	C248F	probably damaging	Het
Myo9a	C	A	9: 59,802,527 (GRCm39)	Q2005K	probably benign	Het
Nfatc4	C	T	14: 56,069,421 (GRCm39)	T649I	probably benign	Het
Nmt1	A	G	11: 102,937,226 (GRCm39)	R88G	probably benign	Het
Nqo1	G	A	8: 108,129,729 (GRCm39)		probably benign	Het
Nudt2	T	G	4: 41,477,576 (GRCm39)	M19R	probably benign	Het
Or10a49	T	A	7: 108,467,476 (GRCm39)	K295M	probably damaging	Het
Or12d2	T	A	17: 37,624,522 (GRCm39)	Y251F	probably benign	Het
Or9q2	C	T	19: 13,772,526 (GRCm39)	V150M	probably benign	Het
P2ry1	T	A	3: 60,911,509 (GRCm39)	I216N	probably damaging	Het
Pcx	T	A	19: 4,669,589 (GRCm39)	L823*	probably null	Het
Pkhd1	A	G	1: 20,619,980 (GRCm39)	V880A	probably damaging	Het
Plcb1	A	T	2: 135,186,196 (GRCm39)	N721I	probably damaging	Het
Prdm15	T	C	16: 97,623,046 (GRCm39)	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,785,996 (GRCm39)	V224A	possibly damaging	Het
Reln	A	G	5: 22,134,125 (GRCm39)	V2601A	probably benign	Het
Rspo4	G	A	2: 151,714,993 (GRCm39)	R210Q	unknown	Het
Slc7a5	A	T	8: 122,615,162 (GRCm39)	D228E	probably benign	Het
Spopfm2	T	A	3: 94,083,509 (GRCm39)	K101*	probably null	Het
Tas2r115	A	G	6: 132,714,214 (GRCm39)	S246P	probably damaging	Het
Tenm4	A	G	7: 96,423,353 (GRCm39)	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,108,923 (GRCm39)	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,889,841 (GRCm39)	I27T	probably benign	Het
Tigd5	G	A	15: 75,781,748 (GRCm39)	G37S	probably benign	Het
Tmem259	C	T	10: 79,815,506 (GRCm39)	D102N	possibly damaging	Het
Tpo	T	G	12: 30,142,589 (GRCm39)	I712L	probably benign	Het
Ttn	G	A	2: 76,700,892 (GRCm39)	T21M	possibly damaging	Het
Utp20	A	T	10: 88,656,572 (GRCm39)		probably null	Het
Xrcc5	A	G	1: 72,351,748 (GRCm39)	D106G	probably damaging	Het
Xrn1	T	A	9: 95,861,194 (GRCm39)	F451L	probably benign	Het
Zar1l	T	A	5: 150,441,203 (GRCm39)	D141V	probably damaging	Het
Zfp27	A	T	7: 29,595,324 (GRCm39)	C214S	possibly damaging	Het
Znfx1	A	T	2: 166,880,744 (GRCm39)	C1211S	probably damaging	Het

Other mutations in Gcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Gcn1	APN	5	115,726,202 (GRCm39)	splice site	probably benign
IGL00974:Gcn1	APN	5	115,751,852 (GRCm39)	missense	possibly damaging	0.88
IGL01566:Gcn1	APN	5	115,749,117 (GRCm39)	missense	probably damaging	1.00
IGL01843:Gcn1	APN	5	115,757,759 (GRCm39)	missense	probably damaging	1.00
IGL01885:Gcn1	APN	5	115,714,174 (GRCm39)	splice site	probably null
IGL02081:Gcn1	APN	5	115,723,930 (GRCm39)	missense	probably damaging	1.00
IGL02118:Gcn1	APN	5	115,748,938 (GRCm39)	missense	probably damaging	1.00
IGL02150:Gcn1	APN	5	115,747,927 (GRCm39)	missense	probably damaging	1.00
IGL02190:Gcn1	APN	5	115,752,183 (GRCm39)	missense	probably damaging	1.00
IGL02219:Gcn1	APN	5	115,751,826 (GRCm39)	missense	possibly damaging	0.68
IGL02507:Gcn1	APN	5	115,723,940 (GRCm39)	missense	probably benign	0.11
IGL02644:Gcn1	APN	5	115,713,250 (GRCm39)	missense	probably benign
IGL02678:Gcn1	APN	5	115,751,814 (GRCm39)	missense	probably damaging	0.99
IGL02748:Gcn1	APN	5	115,748,859 (GRCm39)	splice site	probably null
IGL02755:Gcn1	APN	5	115,742,065 (GRCm39)	splice site	probably null
IGL02896:Gcn1	APN	5	115,757,707 (GRCm39)	splice site	probably benign
cusp	UTSW	5	115,749,119 (GRCm39)	missense	probably damaging	1.00
farthing	UTSW	5	115,714,167 (GRCm39)	splice site	probably benign
IGL03147:Gcn1	UTSW	5	115,748,917 (GRCm39)	missense	possibly damaging	0.78
R0362:Gcn1	UTSW	5	115,714,167 (GRCm39)	splice site	probably benign
R0540:Gcn1	UTSW	5	115,727,015 (GRCm39)	missense	probably benign	0.00
R0569:Gcn1	UTSW	5	115,733,118 (GRCm39)	missense	probably benign	0.00
R0570:Gcn1	UTSW	5	115,730,480 (GRCm39)	missense	probably damaging	1.00
R0584:Gcn1	UTSW	5	115,733,074 (GRCm39)	missense	probably damaging	1.00
R0630:Gcn1	UTSW	5	115,719,148 (GRCm39)	missense	probably benign	0.06
R0656:Gcn1	UTSW	5	115,727,362 (GRCm39)	missense	probably benign	0.27
R0801:Gcn1	UTSW	5	115,729,065 (GRCm39)	missense	probably benign	0.12
R0890:Gcn1	UTSW	5	115,717,852 (GRCm39)	missense	possibly damaging	0.77
R1400:Gcn1	UTSW	5	115,752,220 (GRCm39)	missense	probably damaging	1.00
R1485:Gcn1	UTSW	5	115,712,676 (GRCm39)	missense	probably benign
R1574:Gcn1	UTSW	5	115,753,611 (GRCm39)	missense	probably benign
R1574:Gcn1	UTSW	5	115,753,611 (GRCm39)	missense	probably benign
R1673:Gcn1	UTSW	5	115,720,356 (GRCm39)	missense	probably benign
R1894:Gcn1	UTSW	5	115,727,174 (GRCm39)	missense	probably damaging	1.00
R2114:Gcn1	UTSW	5	115,736,884 (GRCm39)	missense	probably benign	0.35
R2116:Gcn1	UTSW	5	115,736,884 (GRCm39)	missense	probably benign	0.35
R2117:Gcn1	UTSW	5	115,736,884 (GRCm39)	missense	probably benign	0.35
R2152:Gcn1	UTSW	5	115,747,888 (GRCm39)	missense	probably benign	0.07
R2162:Gcn1	UTSW	5	115,730,191 (GRCm39)	missense	probably benign	0.18
R2216:Gcn1	UTSW	5	115,731,720 (GRCm39)	missense	probably benign
R2218:Gcn1	UTSW	5	115,757,720 (GRCm39)	missense	probably benign	0.04
R2278:Gcn1	UTSW	5	115,749,234 (GRCm39)	missense	probably damaging	1.00
R2280:Gcn1	UTSW	5	115,750,789 (GRCm39)	missense	probably damaging	1.00
R3719:Gcn1	UTSW	5	115,717,876 (GRCm39)	missense	probably benign	0.03
R3729:Gcn1	UTSW	5	115,721,453 (GRCm39)	splice site	probably benign
R3833:Gcn1	UTSW	5	115,730,191 (GRCm39)	missense	probably benign	0.18
R3932:Gcn1	UTSW	5	115,725,893 (GRCm39)	missense	probably benign	0.11
R4067:Gcn1	UTSW	5	115,737,147 (GRCm39)	missense	probably damaging	1.00
R4152:Gcn1	UTSW	5	115,751,413 (GRCm39)	critical splice acceptor site	probably null
R4179:Gcn1	UTSW	5	115,726,109 (GRCm39)	missense	probably benign	0.00
R4292:Gcn1	UTSW	5	115,714,207 (GRCm39)	missense	possibly damaging	0.49
R4350:Gcn1	UTSW	5	115,741,389 (GRCm39)	missense	probably damaging	1.00
R4493:Gcn1	UTSW	5	115,732,203 (GRCm39)	missense	probably benign
R4672:Gcn1	UTSW	5	115,744,579 (GRCm39)	missense	probably damaging	1.00
R4749:Gcn1	UTSW	5	115,752,461 (GRCm39)	missense	probably benign
R4753:Gcn1	UTSW	5	115,754,537 (GRCm39)	missense	probably benign
R4826:Gcn1	UTSW	5	115,731,752 (GRCm39)	missense	probably benign
R4873:Gcn1	UTSW	5	115,714,229 (GRCm39)	missense	possibly damaging	0.92
R4875:Gcn1	UTSW	5	115,714,229 (GRCm39)	missense	possibly damaging	0.92
R4932:Gcn1	UTSW	5	115,730,203 (GRCm39)	missense	probably benign	0.00
R4992:Gcn1	UTSW	5	115,737,225 (GRCm39)	missense	probably benign	0.29
R5049:Gcn1	UTSW	5	115,744,730 (GRCm39)	missense	probably damaging	1.00
R5211:Gcn1	UTSW	5	115,757,371 (GRCm39)	missense	probably benign	0.04
R5226:Gcn1	UTSW	5	115,726,126 (GRCm39)	missense	probably benign	0.01
R5338:Gcn1	UTSW	5	115,721,462 (GRCm39)	missense	probably benign	0.00
R5914:Gcn1	UTSW	5	115,748,194 (GRCm39)	synonymous	silent
R5932:Gcn1	UTSW	5	115,730,435 (GRCm39)	missense	possibly damaging	0.77
R6422:Gcn1	UTSW	5	115,747,603 (GRCm39)	missense	probably damaging	1.00
R6435:Gcn1	UTSW	5	115,749,081 (GRCm39)	critical splice acceptor site	probably null
R6607:Gcn1	UTSW	5	115,747,537 (GRCm39)	missense	probably damaging	0.98
R6724:Gcn1	UTSW	5	115,747,217 (GRCm39)	splice site	probably null
R6861:Gcn1	UTSW	5	115,749,108 (GRCm39)	missense	probably benign
R6875:Gcn1	UTSW	5	115,726,169 (GRCm39)	missense	probably damaging	1.00
R6910:Gcn1	UTSW	5	115,744,597 (GRCm39)	missense	probably benign	0.42
R6975:Gcn1	UTSW	5	115,751,518 (GRCm39)	missense	probably damaging	1.00
R7027:Gcn1	UTSW	5	115,754,605 (GRCm39)	critical splice donor site	probably null
R7038:Gcn1	UTSW	5	115,749,203 (GRCm39)	missense	probably damaging	1.00
R7171:Gcn1	UTSW	5	115,728,352 (GRCm39)	missense	probably benign	0.02
R7276:Gcn1	UTSW	5	115,749,119 (GRCm39)	missense	probably damaging	1.00
R7456:Gcn1	UTSW	5	115,743,005 (GRCm39)	nonsense	probably null
R7517:Gcn1	UTSW	5	115,757,755 (GRCm39)	missense	probably benign	0.01
R7714:Gcn1	UTSW	5	115,733,359 (GRCm39)	missense	probably damaging	0.97
R7752:Gcn1	UTSW	5	115,753,627 (GRCm39)	missense	probably damaging	1.00
R7812:Gcn1	UTSW	5	115,731,751 (GRCm39)	missense	possibly damaging	0.91
R7922:Gcn1	UTSW	5	115,752,527 (GRCm39)	missense	probably benign
R8070:Gcn1	UTSW	5	115,727,057 (GRCm39)	missense	probably benign	0.09
R8218:Gcn1	UTSW	5	115,719,588 (GRCm39)	missense	probably benign	0.00
R8329:Gcn1	UTSW	5	115,747,921 (GRCm39)	missense	probably damaging	0.99
R8413:Gcn1	UTSW	5	115,717,698 (GRCm39)	missense	probably benign	0.00
R8795:Gcn1	UTSW	5	115,752,454 (GRCm39)	missense	probably benign	0.02
R8802:Gcn1	UTSW	5	115,747,942 (GRCm39)	missense	probably damaging	1.00
R8899:Gcn1	UTSW	5	115,717,220 (GRCm39)	missense	probably benign	0.04
R8946:Gcn1	UTSW	5	115,733,404 (GRCm39)	missense	probably benign	0.02
R8963:Gcn1	UTSW	5	115,727,153 (GRCm39)	missense	probably benign	0.25
R9006:Gcn1	UTSW	5	115,719,566 (GRCm39)	missense	probably benign	0.22
R9163:Gcn1	UTSW	5	115,742,944 (GRCm39)	missense	probably benign
R9177:Gcn1	UTSW	5	115,719,867 (GRCm39)	missense	probably benign	0.35
R9187:Gcn1	UTSW	5	115,752,177 (GRCm39)	missense	probably damaging	1.00
R9411:Gcn1	UTSW	5	115,733,098 (GRCm39)	missense	possibly damaging	0.87
R9541:Gcn1	UTSW	5	115,754,416 (GRCm39)	missense	probably benign	0.00
R9574:Gcn1	UTSW	5	115,713,341 (GRCm39)	missense	possibly damaging	0.89
R9630:Gcn1	UTSW	5	115,741,349 (GRCm39)	missense	probably damaging	0.99
R9651:Gcn1	UTSW	5	115,747,665 (GRCm39)	critical splice donor site	probably null
R9761:Gcn1	UTSW	5	115,729,064 (GRCm39)	missense	probably benign	0.05
R9765:Gcn1	UTSW	5	115,735,131 (GRCm39)	nonsense	probably null
Z1177:Gcn1	UTSW	5	115,752,208 (GRCm39)	missense	probably damaging	0.99
Z1191:Gcn1	UTSW	5	115,713,352 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AGAGCCTATGATGGAGCCTG -3'
(R):5'- AAGGCTGACTGAAAACCACG -3'

Sequencing Primer
(F):5'- CTGTGAGGGCTCCATCATAG -3'
(R):5'- TGCCCCAGGATGAGGTAGTAC -3'

Posted On

2019-10-07