Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Gcn1'

679828

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

068756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R8899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115717220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 204 (V204A)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably benign
Transcript: ENSMUST00000064454
AA Change: V204A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: V204A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Ate1	T	C	7: 129,996,389 (GRCm39)	K484E	possibly damaging	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,867,377 (GRCm39)	R81*	probably null	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,033,653 (GRCm39)	Y51H	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Nin	A	G	12: 70,077,710 (GRCm39)	W1739R	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,058,822 (GRCm39)	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	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
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'- ACGGTGCTGTGAAGAAGCTC -3'
(R):5'- CAGGTGAAGAATCAACAACTGTC -3'

Sequencing Primer
(F):5'- TGCTGTGAAGAAGCTCACTAAG -3'
(R):5'- AACTGTCACCCCAGTGTCC -3'

Posted On

2021-08-31