Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Gcn1'

394519

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115744730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1642 (M1642K)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064454
AA Change: M1642K

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

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: M1642K

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: ENSMUST00000151030
AA Change: H1243Q

Meta Mutation Damage Score

0.7513

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	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
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
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'- TATCTTCCTGTGACATGCAGCC -3'
(R):5'- GAACTCCGCCAATGATTCAGTTAG -3'

Sequencing Primer
(F):5'- TGCTGGATGCCCTGACAGAC -3'
(R):5'- GATTCAGTTAGCCTTTGAACCACTG -3'

Posted On

2016-06-15