Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Gse1'

174104

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 120578515 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

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: L1195P

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: L1195P

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: L1185P

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: L1185P

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: L1182P

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: L1182P

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: ENSMUST00000155609

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	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
IGL02931:Gse1	APN	8	120578069	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
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	unclassified	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
X0026:Gse1	UTSW	8	120568163	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCAGCAGTACACACTGGTTCTC -3'
(R):5'- TCGTGGCACAGCTATACCAGAAAC -3'

Sequencing Primer
(F):5'- CTGGGAGCCTGTGGTGC -3'
(R):5'- GGCACGTTCTCAATTTGTAAGC -3'

Posted On

2014-04-24