Mutagenetix > Incidental Mutation

Incidental Mutation 'R1400:Gcn1'

160317

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

039462-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1400 (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 115752220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2112 (I2112T)

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064454
AA Change: I2112T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638
AA Change: I2112T

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,191,195 (GRCm39)	E78G	probably damaging	Het
Acsf2	T	C	11: 94,461,142 (GRCm39)	I345V	probably benign	Het
Akap11	T	A	14: 78,751,402 (GRCm39)	K328N	probably damaging	Het
Aoc1	T	A	6: 48,883,217 (GRCm39)	Y364*	probably null	Het
Aoc1	A	T	6: 48,883,645 (GRCm39)	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,339,131 (GRCm39)	T207A	probably benign	Het
Atr	C	A	9: 95,744,901 (GRCm39)	Q73K	probably benign	Het
Cage1	A	G	13: 38,216,400 (GRCm39)	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,241,575 (GRCm39)	I649F	probably benign	Het
Cops4	A	G	5: 100,681,412 (GRCm39)	K200R	probably damaging	Het
Crygd	A	G	1: 65,102,367 (GRCm39)	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,799,299 (GRCm39)	I296T	probably damaging	Het
Fads3	A	G	19: 10,033,664 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,213,265 (GRCm39)	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,425,812 (GRCm39)	H45R	probably benign	Het
Gm43302	A	T	5: 105,422,622 (GRCm39)	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Krt13	C	A	11: 100,012,110 (GRCm39)	G71V	probably damaging	Het
Las1l	T	C	X: 94,990,506 (GRCm39)	T390A	possibly damaging	Het
Lifr	T	A	15: 7,220,346 (GRCm39)	V992E	probably benign	Het
Mbd5	T	C	2: 49,164,788 (GRCm39)		probably null	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,350,477 (GRCm39)	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185 (GRCm39)	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,021,085 (GRCm39)	E524V	possibly damaging	Het
Nxf3	T	A	X: 134,976,794 (GRCm39)	T349S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or4c12	T	A	2: 89,773,886 (GRCm39)	H191L	possibly damaging	Het
Or4n5	A	T	14: 50,133,148 (GRCm39)	I37K	possibly damaging	Het
Or7g29	A	G	9: 19,286,358 (GRCm39)	V273A	probably damaging	Het
Or9g19	T	C	2: 85,600,477 (GRCm39)	C111R	possibly damaging	Het
Plscr1l1	G	T	9: 92,233,180 (GRCm39)	C25F	probably benign	Het
Ppm1e	T	A	11: 87,122,592 (GRCm39)	N455I	probably damaging	Het
Prkag2	G	A	5: 25,078,916 (GRCm39)	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,502,587 (GRCm39)		probably null	Het
Rai14	T	G	15: 10,571,634 (GRCm39)	K936N	probably damaging	Het
Rasgrf2	A	G	13: 92,035,808 (GRCm39)	L1077P	probably damaging	Het
Rgn	C	A	X: 20,416,696 (GRCm39)	Q27K	probably benign	Het
Ryr2	C	T	13: 11,609,962 (GRCm39)	S723N	probably benign	Het
Scamp1	A	G	13: 94,361,455 (GRCm39)	F142L	possibly damaging	Het
Selenon	A	G	4: 134,278,829 (GRCm39)	V67A	probably benign	Het
Slc5a5	T	C	8: 71,342,079 (GRCm39)	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,654,140 (GRCm39)	T775K	probably damaging	Het
Stab1	C	T	14: 30,861,787 (GRCm39)	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,377,317 (GRCm39)	A49V	probably benign	Het
Tlr7	T	A	X: 166,090,845 (GRCm39)	N214Y	probably damaging	Het
Unc13a	C	A	8: 72,103,865 (GRCm39)	D856Y	probably damaging	Het
Upp2	T	C	2: 58,680,118 (GRCm39)	Y263H	probably damaging	Het
Vill	T	C	9: 118,892,415 (GRCm39)	S349P	probably benign	Het
Zfp644	T	C	5: 106,785,336 (GRCm39)		probably null	Het
Zfp664	T	C	5: 124,963,217 (GRCm39)	C204R	unknown	Het
Zfp729b	A	G	13: 67,740,913 (GRCm39)	Y451H	possibly 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
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
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'- AGTGCTCCCTTGGCTTTCAGGATG -3'
(R):5'- GTGGCTTCCAACAGATCCTCGATG -3'

Sequencing Primer
(F):5'- TCAGGATGTGCTGGAGCAG -3'
(R):5'- CAGATCCTCGATGATGATCCG -3'

Posted On

2014-03-14