Mutagenetix > Incidental Mutation

Incidental Mutation 'R9761:Gcn1'

733005

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R9761 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115729064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 792 (M792V)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably benign
Transcript: ENSMUST00000064454
AA Change: M792V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: M792V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,544,854 (GRCm39)	T1411I	possibly damaging	Het
Ablim3	C	A	18: 61,952,885 (GRCm39)	R393L	possibly damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Ankrd35	C	T	3: 96,591,733 (GRCm39)	T673I	possibly damaging	Het
Atp11b	A	T	3: 35,903,607 (GRCm39)	K1114*	probably null	Het
Atp11b	C	T	3: 35,903,621 (GRCm39)	P947L	probably benign	Het
Atp11b	G	T	3: 35,903,616 (GRCm39)	D1117Y	probably damaging	Het
Cfap74	C	A	4: 155,550,844 (GRCm39)	H243Q	unknown	Het
Dgkh	A	T	14: 78,889,163 (GRCm39)	S111R	probably damaging	Het
Dpp6	G	A	5: 27,869,743 (GRCm39)	R505K	probably benign	Het
Elp4	C	T	2: 105,624,904 (GRCm39)	G330S	probably damaging	Het
Fsip2	A	T	2: 82,821,994 (GRCm39)	N5909I	probably benign	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gpr152	T	C	19: 4,193,227 (GRCm39)	L256P	probably damaging	Het
Greb1	C	T	12: 16,751,275 (GRCm39)	M1006I	probably benign	Het
Gzf1	C	T	2: 148,530,011 (GRCm39)	S514L	probably damaging	Het
Helz	C	A	11: 107,560,874 (GRCm39)	S1312*	probably null	Het
Hmcn1	T	C	1: 150,868,625 (GRCm39)	I60V	probably damaging	Het
Ift81	A	C	5: 122,729,146 (GRCm39)	D395E	probably benign	Het
Itfg1	T	C	8: 86,563,031 (GRCm39)	N123S	probably benign	Het
Klk1b1	C	A	7: 43,618,739 (GRCm39)	H39N	possibly damaging	Het
Klk1b24	A	T	7: 43,839,779 (GRCm39)	N46I	possibly damaging	Het
Klrg2	C	A	6: 38,607,287 (GRCm39)	W241L	probably damaging	Het
Lhx9	T	C	1: 138,774,934 (GRCm39)	N3S	probably benign	Het
Lrrc2	A	G	9: 110,809,942 (GRCm39)	D326G	possibly damaging	Het
Mansc1	A	T	6: 134,587,004 (GRCm39)	L391Q	probably damaging	Het
Mcidas	G	A	13: 113,135,453 (GRCm39)	R292H	probably benign	Het
Ms4a19	T	C	19: 11,119,754 (GRCm39)	T59A	probably benign	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Or12d13	T	A	17: 37,648,057 (GRCm39)	Q22L	possibly damaging	Het
Or14j7	T	C	17: 38,234,934 (GRCm39)	F159S	probably benign	Het
Or4f53	C	A	2: 111,087,606 (GRCm39)	L49I	probably benign	Het
Or4f53	T	G	2: 111,087,607 (GRCm39)	L49R	possibly damaging	Het
Or8g26	T	C	9: 39,096,146 (GRCm39)	I221T	probably damaging	Het
Or8k20	C	T	2: 86,106,150 (GRCm39)	R227Q	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Poc1b	C	T	10: 98,965,356 (GRCm39)	S95F	probably benign	Het
Pprc1	A	G	19: 46,049,998 (GRCm39)	I104V	unknown	Het
Prkar1b	C	A	5: 139,092,410 (GRCm39)	V136L	probably benign	Het
Scn2a	A	G	2: 65,566,030 (GRCm39)	I1351M	probably damaging	Het
Serpina3c	G	T	12: 104,118,089 (GRCm39)	A83D	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,318,190 (GRCm39)		probably null	Het
Ticrr	A	G	7: 79,345,313 (GRCm39)	E1726G	probably damaging	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tnrc6c	T	A	11: 117,623,136 (GRCm39)	H892Q	probably benign	Het
Tnxb	A	G	17: 34,903,987 (GRCm39)	T1043A	probably benign	Het
Vps50	T	A	6: 3,519,218 (GRCm39)	V100D	probably damaging	Het
Zim1	G	C	7: 6,680,771 (GRCm39)	H297Q	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
R7473:Gcn1	UTSW	5	115,719,863 (GRCm39)	missense	probably benign	0.09
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
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'- AGCACTGACCTGGTACATGC -3'
(R):5'- AAACGCTGGTTTCCTTTGAGTG -3'

Sequencing Primer
(F):5'- ATCCGCATACAGGTTCACTAGGG -3'
(R):5'- CTTTGAGTGGGGTCAGAGGAAGC -3'

Posted On

2022-11-14