Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Gcn1'

242894

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R2278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115749234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1922 (I1922T)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064454
AA Change: I1922T

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

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: I1922T

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

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bmp5	T	A	9: 75,683,830 (GRCm39)	N152K	possibly damaging	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lypla1	T	G	1: 4,911,321 (GRCm39)		probably null	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	Het
Znhit6	G	T	3: 145,281,991 (GRCm39)		probably benign	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
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
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'- CAGTCTAACAAGGTGAGGGC -3'
(R):5'- GACTGTTCCAGTTACATAGGGG -3'

Sequencing Primer
(F):5'- TAACAAGGTGAGGGCCTGCC -3'
(R):5'- TTCCAGTTACATAGGGGACGCC -3'

Posted On

2014-10-16