Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01407:Gse1'

79856

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

120955233-121308122 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 121280326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000113577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664] [ENSMUST00000180448]

AlphaFold

Q3U3C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034279
AA Change: M14T

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

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: M14T

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

probably damaging
Transcript: ENSMUST00000118136
AA Change: M4T

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

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: M4T

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

probably null
Transcript: ENSMUST00000120493
AA Change: M1T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: M1T

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

unknown
Transcript: ENSMUST00000180448
AA Change: M714T

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,076,288 (GRCm39)	D1140V	probably damaging	Het
Ak1	G	T	2: 32,523,507 (GRCm39)		probably benign	Het
Ano1	A	T	7: 144,190,848 (GRCm39)	L411H	probably benign	Het
Atad2	A	T	15: 57,967,921 (GRCm39)	N569K	probably benign	Het
Bst2	C	A	8: 71,989,830 (GRCm39)	R81L	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Chrna5	C	T	9: 54,911,683 (GRCm39)	T57M	possibly damaging	Het
Cp	A	T	3: 20,031,369 (GRCm39)	D602V	possibly damaging	Het
Drd2	T	C	9: 49,312,115 (GRCm39)	I156T	probably damaging	Het
Elp4	G	A	2: 105,622,653 (GRCm39)	R349W	probably damaging	Het
Eml6	G	A	11: 29,705,021 (GRCm39)	R1508*	probably null	Het
Etl4	T	C	2: 20,748,667 (GRCm39)	L335S	probably damaging	Het
Fat3	A	T	9: 16,289,319 (GRCm39)	I68K	probably benign	Het
Fyco1	G	T	9: 123,657,944 (GRCm39)	A744D	probably damaging	Het
Gm22165	G	T	3: 64,012,886 (GRCm39)		probably benign	Het
Hs3st5	A	T	10: 36,709,404 (GRCm39)	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,210,719 (GRCm39)	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,406 (GRCm39)	S93I	probably benign	Het
Itgb1	T	C	8: 129,449,315 (GRCm39)	V578A	probably benign	Het
Klf12	A	T	14: 100,347,294 (GRCm39)	N12K	possibly damaging	Het
Krt40	C	T	11: 99,432,045 (GRCm39)	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,864,965 (GRCm39)	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,837,915 (GRCm39)	Y213C	probably damaging	Het
Mitf	C	A	6: 97,994,892 (GRCm39)	T277K	possibly damaging	Het
Ncan	C	T	8: 70,554,607 (GRCm39)	R1070H	probably benign	Het
Nr4a3	A	G	4: 48,083,201 (GRCm39)	E578G	probably benign	Het
Patj	A	G	4: 98,301,287 (GRCm39)	T191A	possibly damaging	Het
Pign	A	G	1: 105,517,027 (GRCm39)	V533A	probably benign	Het
Smad5	G	A	13: 56,883,630 (GRCm39)	V339I	probably benign	Het
Spem2	T	A	11: 69,708,065 (GRCm39)	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,193,790 (GRCm39)	S605A	probably damaging	Het
Treml4	T	A	17: 48,571,877 (GRCm39)	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,924 (GRCm39)	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,306,826 (GRCm39)	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,190,230 (GRCm39)	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,233,611 (GRCm39)	K10I	probably benign	Het

Other mutations in Gse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2974:Gse1	UTSW	8	121,297,636 (GRCm39)	intron	probably benign
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

Posted On

2013-11-05