Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Gse1'

507277

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R6270 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 120569163 bp (GRCm38)

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: F485S

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: F485S

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: F475S

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: F475S

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: F472S

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: F472S

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

0.0741

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,421	D65G	probably damaging	Het
Acsl6	A	G	11: 54,352,107	E648G	probably benign	Het
Ak7	A	G	12: 105,768,701	H642R	probably benign	Het
Akap11	T	C	14: 78,518,799	E53G	probably damaging	Het
Ddr2	T	G	1: 169,988,540	T533P	probably benign	Het
Dhx40	A	G	11: 86,799,605	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,392,269		probably benign	Het
Eng	A	G	2: 32,673,643	D347G	probably benign	Het
Esrra	C	T	19: 6,914,120		probably null	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fap	T	C	2: 62,547,788	I159V	probably damaging	Het
Fn1	C	T	1: 71,637,275	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,757,463	V395A	probably damaging	Het
Foxn3	T	C	12: 99,388,417	R163G	probably damaging	Het
Gphn	T	G	12: 78,522,950	L306R	probably benign	Het
Habp2	A	G	19: 56,306,863	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,808,495		probably null	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Kit	A	G	5: 75,609,509	T194A	probably benign	Het
Krt16	C	A	11: 100,247,203	A316S	possibly damaging	Het
Krt7	A	G	15: 101,419,558	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,273,351	Y77*	probably null	Het
Lrrc18	A	T	14: 33,009,121	M206L	probably benign	Het
Magel2	C	A	7: 62,380,658	C1103*	probably null	Het
Mcf2l	T	C	8: 13,018,701	V1058A	probably damaging	Het
Nbas	G	A	12: 13,324,293	A541T	probably damaging	Het
Nrap	C	T	19: 56,320,198	M1485I	probably benign	Het
Nudt18	T	C	14: 70,579,390	Y145H	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,419	C97S	probably damaging	Het
Olfr583	T	C	7: 103,051,331	L11P	probably benign	Het
Olfr623	T	C	7: 103,660,413	Y279C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,436,785	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,158,436	W431R	probably damaging	Het
Pga5	T	C	19: 10,674,861	E139G	probably benign	Het
Pkdrej	G	T	15: 85,821,105	S210*	probably null	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Sema3d	A	T	5: 12,448,107	M27L	probably benign	Het
Serinc5	T	C	13: 92,688,662	S200P	probably damaging	Het
Sf3b3	T	C	8: 110,841,820	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,517,554		probably null	Het
Tcaf3	T	C	6: 42,593,791	I342M	probably benign	Het
Tenm3	G	A	8: 48,367,394	T136M	probably damaging	Het
Tet3	T	C	6: 83,375,791	T1008A	possibly damaging	Het
Tgif1	T	C	17: 70,844,866		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,649,866	D81G	probably benign	Het
Trpv5	T	A	6: 41,674,359	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,800,388	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,194,325	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,293,815	I847V	probably benign	Het
Zfp474	A	G	18: 52,638,364	T30A	probably benign	Het
Zswim4	C	T	8: 84,230,951	V163M	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGCAGTGTTTCCTTCAGTC -3'
(R):5'- CATCACTTGCCTCACGTGAG -3'

Sequencing Primer
(F):5'- TTCAGTCCTGGGCTCCGAG -3'
(R):5'- TGTGCTCCGCCTCTGTGG -3'

Posted On

2018-03-15