Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Gse1'

364124

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: 0.137) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 120578069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034278] [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]

AlphaFold

Q3U3C9

Predicted Effect

probably benign
Transcript: ENSMUST00000034278

SMART Domains

Protein: ENSMUSP00000034278
Gene: ENSMUSG00000031821

Domain	Start	End	E-Value	Type
Pfam:Sld5	42	153	9.6e-26	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000034279
AA Change: M1178V

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: M1178V

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: M1168V

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: M1168V

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: M1165V

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: M1165V

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

noncoding transcript
Transcript: ENSMUST00000126094

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: ENSMUST00000146526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155609

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,079,012	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,579,714	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,393,450	E33*	probably null	Het
Arhgap29	T	C	3: 121,992,860	V358A	probably benign	Het
B3galt1	T	C	2: 68,118,384	S148P	probably damaging	Het
BC061237	A	G	14: 44,503,322	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,500,750	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,426,902	K107Q	probably benign	Het
Col27a1	T	C	4: 63,331,426		probably benign	Het
Col5a2	T	C	1: 45,385,065	D1067G	probably damaging	Het
Col9a2	A	T	4: 121,053,192	R511S	probably benign	Het
Disp3	G	A	4: 148,249,201	S1060F	possibly damaging	Het
Dusp8	T	C	7: 142,082,930	T308A	probably benign	Het
Ern1	T	C	11: 106,423,440	N178S	probably damaging	Het
Gas6	C	A	8: 13,477,136	C204F	probably damaging	Het
Gga1	T	C	15: 78,893,322	S558P	possibly damaging	Het
Gli1	T	C	10: 127,332,410	T525A	probably benign	Het
Gm428	G	A	4: 73,687,365	A338T	probably damaging	Het
Hmcn1	G	A	1: 150,657,207	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,566,117		probably benign	Het
Htt	A	T	5: 34,876,753	E1894D	probably damaging	Het
Kcnh8	G	A	17: 52,956,622	E716K	probably benign	Het
Kntc1	A	G	5: 123,799,811	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,949,105	T211A	unknown	Het
Lin54	T	C	5: 100,480,321	I8V	possibly damaging	Het
Lipe	A	G	7: 25,383,335		probably benign	Het
Lpin2	T	A	17: 71,238,683	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,454,149	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,567,748	L169P	probably damaging	Het
Map9	C	A	3: 82,377,121	T334K	possibly damaging	Het
Mst1	A	T	9: 108,084,642		probably null	Het
Mtor	T	A	4: 148,464,964	F602I	probably benign	Het
Mylpf	T	A	7: 127,213,626	D98E	probably benign	Het
Naca	C	A	10: 128,047,682	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,941,356	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940		noncoding transcript	Het
Npat	C	T	9: 53,571,041	Q1350*	probably null	Het
Oaz3	T	C	3: 94,434,980	N123S	probably benign	Het
Patj	A	G	4: 98,411,173		probably benign	Het
Piezo1	A	C	8: 122,483,519	D2224E	probably damaging	Het
Pnpla7	A	T	2: 25,015,229	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,204,889	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,590,619		probably benign	Het
Rac2	T	C	15: 78,570,747	E31G	possibly damaging	Het
Sdhc	T	C	1: 171,143,555		probably benign	Het
Smim23	G	T	11: 32,820,667	P80T	probably damaging	Het
Snupn	C	T	9: 56,957,080	T21I	probably benign	Het
Tjp2	A	G	19: 24,096,632	V1097A	probably benign	Het
Tmem8	T	A	17: 26,117,949	F280L	probably benign	Het
Ttc16	A	G	2: 32,771,927	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,827,982	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,802,851	V34M	probably damaging	Het
Vwf	A	C	6: 125,615,968	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,192,637	S146G	probably benign	Het
Zfp280d	T	G	9: 72,296,025	F18L	probably benign	Het

Other mutations in Gse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Gse1	APN	8	120553587	start codon destroyed	probably null	0.79
IGL02484:Gse1	APN	8	120575262	intron	probably benign
IGL03193:Gse1	APN	8	120571340	critical splice donor site	probably null
R0027:Gse1	UTSW	8	120566546	intron	probably benign
R0109:Gse1	UTSW	8	120567785	missense	probably damaging	1.00
R0257:Gse1	UTSW	8	120572334	intron	probably benign
R0967:Gse1	UTSW	8	120570855	intron	probably benign
R1395:Gse1	UTSW	8	120574999	intron	probably benign
R1480:Gse1	UTSW	8	120572394	intron	probably benign
R1532:Gse1	UTSW	8	120568210	intron	probably benign
R1649:Gse1	UTSW	8	120578515	intron	probably benign
R1728:Gse1	UTSW	8	120568253	intron	probably benign
R1742:Gse1	UTSW	8	120566950	missense	probably damaging	1.00
R1784:Gse1	UTSW	8	120568253	intron	probably benign
R2081:Gse1	UTSW	8	120566480	missense	probably damaging	1.00
R2110:Gse1	UTSW	8	120566980	missense	probably damaging	1.00
R2974:Gse1	UTSW	8	120570897	intron	probably benign
R3615:Gse1	UTSW	8	120572742	intron	probably benign
R3616:Gse1	UTSW	8	120572742	intron	probably benign
R3857:Gse1	UTSW	8	120571133	intron	probably benign
R4201:Gse1	UTSW	8	120567764	missense	probably benign	0.39
R4494:Gse1	UTSW	8	120570814	intron	probably benign
R4857:Gse1	UTSW	8	120572757	intron	probably benign
R4911:Gse1	UTSW	8	120568466	intron	probably benign
R5640:Gse1	UTSW	8	120562677	missense	possibly damaging	0.65
R5782:Gse1	UTSW	8	120566521	missense	probably damaging	1.00
R5980:Gse1	UTSW	8	120229637	intron	probably benign
R6090:Gse1	UTSW	8	120571169	intron	probably benign
R6156:Gse1	UTSW	8	120489127	missense	possibly damaging	0.95
R6191:Gse1	UTSW	8	120553803	critical splice donor site	probably null
R6270:Gse1	UTSW	8	120569163	intron	probably benign
R6502:Gse1	UTSW	8	120553689	splice site	probably null
R6573:Gse1	UTSW	8	120567797	missense	probably damaging	1.00
R6885:Gse1	UTSW	8	120229482	intron	probably benign
R6901:Gse1	UTSW	8	120229822	intron	probably benign
R6959:Gse1	UTSW	8	120570971	intron	probably benign
R7023:Gse1	UTSW	8	120230648	intron	probably benign
R7210:Gse1	UTSW	8	120230702	missense	unknown
R7263:Gse1	UTSW	8	120574171	missense	unknown
R7449:Gse1	UTSW	8	120229711	missense	unknown
R7602:Gse1	UTSW	8	120569304	missense	unknown
R7627:Gse1	UTSW	8	120572777	missense	unknown
R7635:Gse1	UTSW	8	120572895	missense	unknown
R7689:Gse1	UTSW	8	120568478	missense	unknown
R8108:Gse1	UTSW	8	120229810	missense	unknown
R8326:Gse1	UTSW	8	120578580	missense	unknown
R8474:Gse1	UTSW	8	120568384	intron	probably benign
R8544:Gse1	UTSW	8	120553652	missense	probably damaging	1.00
R8783:Gse1	UTSW	8	120576378	missense	unknown
R8817:Gse1	UTSW	8	120567803	missense	probably damaging	1.00
R8886:Gse1	UTSW	8	120570731	missense	unknown
R8896:Gse1	UTSW	8	120576446	missense	unknown
R9044:Gse1	UTSW	8	120230530	missense	unknown
R9130:Gse1	UTSW	8	120568313	missense	unknown
R9185:Gse1	UTSW	8	120568169	missense	possibly damaging	0.95
R9398:Gse1	UTSW	8	120576335	missense	unknown
R9430:Gse1	UTSW	8	120572310	missense	unknown
R9471:Gse1	UTSW	8	120575106	missense	unknown
R9696:Gse1	UTSW	8	120229541	missense	unknown
R9797:Gse1	UTSW	8	120489125	missense	probably damaging	0.99
X0026:Gse1	UTSW	8	120568163	nonsense	probably null
Z1177:Gse1	UTSW	8	120229852	missense	unknown

Posted On

2015-12-18