Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Gse1'

255321

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120955233-121308122 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 121297636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]

AlphaFold

Q3U3C9

Predicted Effect

unknown
Transcript: ENSMUST00000034279
AA Change: S616R

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: S616R

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
Pfam:DUF3736	81	216	2.9e-21	PFAM
coiled coil region	329	414	N/A	INTRINSIC
Pfam:DUF3736	742	883	9.7e-46	PFAM
low complexity region	959	973	N/A	INTRINSIC
low complexity region	1103	1124	N/A	INTRINSIC
coiled coil region	1133	1207	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000118136
AA Change: S606R

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: S606R

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
Pfam:DUF3736	70	203	2.2e-39	PFAM
low complexity region	204	211	N/A	INTRINSIC
coiled coil region	319	404	N/A	INTRINSIC
Pfam:DUF3736	731	874	7.5e-48	PFAM
low complexity region	949	963	N/A	INTRINSIC
low complexity region	1093	1114	N/A	INTRINSIC
coiled coil region	1123	1197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000120493
AA Change: S603R

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: S603R

Domain	Start	End	E-Value	Type
low complexity region	48	60	N/A	INTRINSIC
Pfam:DUF3736	67	200	2.2e-39	PFAM
low complexity region	201	208	N/A	INTRINSIC
coiled coil region	316	401	N/A	INTRINSIC
Pfam:DUF3736	728	871	7.5e-48	PFAM
low complexity region	946	960	N/A	INTRINSIC
low complexity region	1090	1111	N/A	INTRINSIC
coiled coil region	1120	1194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147327

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
Ctu1	A	G	7: 43,325,074 (GRCm39)		probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,361 (GRCm39)		probably null	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in Gse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Gse1	APN	8	121,280,326 (GRCm39)	start codon destroyed	probably null	0.79
IGL02484:Gse1	APN	8	121,302,001 (GRCm39)	intron	probably benign
IGL02931:Gse1	APN	8	121,304,808 (GRCm39)	intron	probably benign
IGL03193:Gse1	APN	8	121,298,079 (GRCm39)	critical splice donor site	probably null
R0027:Gse1	UTSW	8	121,293,285 (GRCm39)	intron	probably benign
R0109:Gse1	UTSW	8	121,294,524 (GRCm39)	missense	probably damaging	1.00
R0257:Gse1	UTSW	8	121,299,073 (GRCm39)	intron	probably benign
R0967:Gse1	UTSW	8	121,297,594 (GRCm39)	intron	probably benign
R1395:Gse1	UTSW	8	121,301,738 (GRCm39)	intron	probably benign
R1480:Gse1	UTSW	8	121,299,133 (GRCm39)	intron	probably benign
R1532:Gse1	UTSW	8	121,294,949 (GRCm39)	intron	probably benign
R1649:Gse1	UTSW	8	121,305,254 (GRCm39)	intron	probably benign
R1728:Gse1	UTSW	8	121,294,992 (GRCm39)	intron	probably benign
R1742:Gse1	UTSW	8	121,293,689 (GRCm39)	missense	probably damaging	1.00
R1784:Gse1	UTSW	8	121,294,992 (GRCm39)	intron	probably benign
R2081:Gse1	UTSW	8	121,293,219 (GRCm39)	missense	probably damaging	1.00
R2110:Gse1	UTSW	8	121,293,719 (GRCm39)	missense	probably damaging	1.00
R3615:Gse1	UTSW	8	121,299,481 (GRCm39)	intron	probably benign
R3616:Gse1	UTSW	8	121,299,481 (GRCm39)	intron	probably benign
R3857:Gse1	UTSW	8	121,297,872 (GRCm39)	intron	probably benign
R4201:Gse1	UTSW	8	121,294,503 (GRCm39)	missense	probably benign	0.39
R4494:Gse1	UTSW	8	121,297,553 (GRCm39)	intron	probably benign
R4857:Gse1	UTSW	8	121,299,496 (GRCm39)	intron	probably benign
R4911:Gse1	UTSW	8	121,295,205 (GRCm39)	intron	probably benign
R5640:Gse1	UTSW	8	121,289,416 (GRCm39)	missense	possibly damaging	0.65
R5782:Gse1	UTSW	8	121,293,260 (GRCm39)	missense	probably damaging	1.00
R5980:Gse1	UTSW	8	120,956,376 (GRCm39)	intron	probably benign
R6090:Gse1	UTSW	8	121,297,908 (GRCm39)	intron	probably benign
R6156:Gse1	UTSW	8	121,215,866 (GRCm39)	missense	possibly damaging	0.95
R6191:Gse1	UTSW	8	121,280,542 (GRCm39)	critical splice donor site	probably null
R6270:Gse1	UTSW	8	121,295,902 (GRCm39)	intron	probably benign
R6502:Gse1	UTSW	8	121,280,428 (GRCm39)	splice site	probably null
R6573:Gse1	UTSW	8	121,294,536 (GRCm39)	missense	probably damaging	1.00
R6885:Gse1	UTSW	8	120,956,221 (GRCm39)	intron	probably benign
R6901:Gse1	UTSW	8	120,956,561 (GRCm39)	intron	probably benign
R6959:Gse1	UTSW	8	121,297,710 (GRCm39)	intron	probably benign
R7023:Gse1	UTSW	8	120,957,387 (GRCm39)	intron	probably benign
R7210:Gse1	UTSW	8	120,957,441 (GRCm39)	missense	unknown
R7263:Gse1	UTSW	8	121,300,910 (GRCm39)	missense	unknown
R7449:Gse1	UTSW	8	120,956,450 (GRCm39)	missense	unknown
R7602:Gse1	UTSW	8	121,296,043 (GRCm39)	missense	unknown
R7627:Gse1	UTSW	8	121,299,516 (GRCm39)	missense	unknown
R7635:Gse1	UTSW	8	121,299,634 (GRCm39)	missense	unknown
R7689:Gse1	UTSW	8	121,295,217 (GRCm39)	missense	unknown
R8108:Gse1	UTSW	8	120,956,549 (GRCm39)	missense	unknown
R8326:Gse1	UTSW	8	121,305,319 (GRCm39)	missense	unknown
R8474:Gse1	UTSW	8	121,295,123 (GRCm39)	intron	probably benign
R8544:Gse1	UTSW	8	121,280,391 (GRCm39)	missense	probably damaging	1.00
R8783:Gse1	UTSW	8	121,303,117 (GRCm39)	missense	unknown
R8817:Gse1	UTSW	8	121,294,542 (GRCm39)	missense	probably damaging	1.00
R8886:Gse1	UTSW	8	121,297,470 (GRCm39)	missense	unknown
R8896:Gse1	UTSW	8	121,303,185 (GRCm39)	missense	unknown
R9044:Gse1	UTSW	8	120,957,269 (GRCm39)	missense	unknown
R9130:Gse1	UTSW	8	121,295,052 (GRCm39)	missense	unknown
R9185:Gse1	UTSW	8	121,294,908 (GRCm39)	missense	possibly damaging	0.95
R9398:Gse1	UTSW	8	121,303,074 (GRCm39)	missense	unknown
R9430:Gse1	UTSW	8	121,299,049 (GRCm39)	missense	unknown
R9471:Gse1	UTSW	8	121,301,845 (GRCm39)	missense	unknown
R9696:Gse1	UTSW	8	120,956,280 (GRCm39)	missense	unknown
R9797:Gse1	UTSW	8	121,215,864 (GRCm39)	missense	probably damaging	0.99
X0026:Gse1	UTSW	8	121,294,902 (GRCm39)	nonsense	probably null
Z1177:Gse1	UTSW	8	120,956,591 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTAGGCCAGGAACAAACC -3'
(R):5'- AGTTCAGTAAGGAAAGGCCC -3'

Sequencing Primer
(F):5'- GCCAGGAACAAACCGGCATG -3'
(R):5'- TTCAGTAAGGAAAGGCCCAGGTC -3'

Posted On

2014-12-29