Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Gcn1'

529752

Institutional Source

Beutler Lab

Gene Symbol

Gcn1

Ensembl Gene

ENSMUSG00000041638

Gene Name

GCN1 activator of EIF2AK4

Synonyms

Gcn1l1, G431004K08Rik, GCN1L

MMRRC Submission

044842-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R6724 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

115703313-115760713 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 115747217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069432 (fasta)

Gene Model

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

AlphaFold

E9PVA8

Predicted Effect

probably null
Transcript: ENSMUST00000064454

SMART Domains

Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638

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: ENSMUST00000139933

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,665,445 (GRCm39)	T619S	probably benign	Het
Adgra2	G	A	8: 27,604,210 (GRCm39)	A467T	possibly damaging	Het
Alox5	A	T	6: 116,391,509 (GRCm39)	I416N	probably damaging	Het
Blmh	A	G	11: 76,862,733 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,255,973 (GRCm39)	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728 (GRCm39)	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,706,874 (GRCm39)	T2080A	unknown	Het
Crybg3	A	T	16: 59,364,501 (GRCm39)	C2374S	probably benign	Het
Csmd2	A	G	4: 128,457,164 (GRCm39)	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,518,180 (GRCm39)	D1809V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,728,602 (GRCm39)	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,736,817 (GRCm39)	V319D	probably damaging	Het
Eif1ad6	A	T	12: 87,668,754 (GRCm39)	I129F	unknown	Het
Ercc6	A	T	14: 32,288,288 (GRCm39)	E820V	probably benign	Het
Fip1l1	T	G	5: 74,752,435 (GRCm39)	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,911,552 (GRCm39)	Y358F	possibly damaging	Het
Gm11011	T	A	2: 169,429,402 (GRCm39)	T28S	unknown	Het
Guf1	C	A	5: 69,723,736 (GRCm39)	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,192,719 (GRCm39)	E223G	probably benign	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ipo8	A	T	6: 148,711,473 (GRCm39)		probably null	Het
Isl2	A	G	9: 55,448,572 (GRCm39)	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,780,664 (GRCm39)	Y512C	probably damaging	Het
Kifc1	T	A	17: 34,105,707 (GRCm39)		probably null	Het
Klhdc10	A	G	6: 30,446,640 (GRCm39)	D183G	probably damaging	Het
Klra5	T	A	6: 129,883,643 (GRCm39)	K71N	probably benign	Het
Lrp6	T	C	6: 134,463,504 (GRCm39)	H559R	possibly damaging	Het
Maml3	T	C	3: 51,763,296 (GRCm39)	N556S	probably damaging	Het
Man2a1	A	G	17: 65,038,264 (GRCm39)	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,786 (GRCm39)	S293P	probably damaging	Het
Nalcn	A	G	14: 123,535,479 (GRCm39)	S1282P	probably damaging	Het
Npepps	A	T	11: 97,096,828 (GRCm39)		probably benign	Het
Or4a72	A	T	2: 89,405,309 (GRCm39)	F254I	probably benign	Het
Or4c108	T	G	2: 88,803,612 (GRCm39)	I208L	probably benign	Het
Or8u10	A	T	2: 85,915,701 (GRCm39)	V140E	possibly damaging	Het
Or9m1	T	G	2: 87,733,946 (GRCm39)	S25R	probably benign	Het
Pkn3	C	A	2: 29,980,562 (GRCm39)	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,517,745 (GRCm39)	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,335,281 (GRCm39)	S261T	probably benign	Het
Ptprj	T	C	2: 90,281,195 (GRCm39)	D1015G	probably benign	Het
Pus10	T	C	11: 23,679,037 (GRCm39)	M503T	possibly damaging	Het
Pvr	T	C	7: 19,652,604 (GRCm39)	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,289,450 (GRCm39)	R653G	probably benign	Het
Semp2l2a	A	T	8: 13,887,083 (GRCm39)	L336Q	probably damaging	Het
Serpina1a	G	T	12: 103,826,679 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,416,656 (GRCm39)	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,110,928 (GRCm39)	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,779,726 (GRCm39)	I30T	probably benign	Het
Spz1	A	T	13: 92,711,992 (GRCm39)	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,330,492 (GRCm39)	R259G	probably damaging	Het
Top1	G	A	2: 160,554,616 (GRCm39)	V456M	probably damaging	Het
Tpcn2	G	A	7: 144,810,257 (GRCm39)	A649V	probably benign	Het
Trank1	C	G	9: 111,194,984 (GRCm39)	R1003G	probably damaging	Het
Tril	T	A	6: 53,796,559 (GRCm39)	H221L	possibly damaging	Het
Unc79	C	T	12: 103,071,120 (GRCm39)	T1305I	probably damaging	Het
Unc80	C	T	1: 66,722,350 (GRCm39)	A2988V	possibly damaging	Het
Vinac1	A	C	2: 128,879,976 (GRCm39)	V650G	probably benign	Het
Vmn1r81	A	T	7: 11,994,599 (GRCm39)	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,084,112 (GRCm39)	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,452,093 (GRCm39)	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,084,774 (GRCm39)	T624I	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
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'- CTGGACAAGTTTGTGTGCCATG -3'
(R):5'- GCACTTTCCAGGAAGGTATTTTC -3'

Sequencing Primer
(F):5'- GACAAGTTTGTGTGCCATGATTTAC -3'
(R):5'- AGTGAAGCTTTCAGGCCA -3'

Posted On

2018-08-01