Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Gse1'

577569

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

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

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120955233-121308122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120956450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 314 (S314P)

Ref Sequence

ENSEMBL: ENSMUSP00000137811 (fasta)

Gene Model

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

AlphaFold

Q3U3C9

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: S314P

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,035,131 (GRCm39)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,647,192 (GRCm39)	V3116D	probably damaging	Het
Adss1	A	T	12: 112,600,585 (GRCm39)	T185S	probably damaging	Het
Ago2	G	A	15: 73,018,348 (GRCm39)	P30L	probably damaging	Het
Arb2a	A	G	13: 77,907,561 (GRCm39)	I41V	probably damaging	Het
Atp5pf	C	T	16: 84,628,251 (GRCm39)	V44M	probably benign	Het
Atp7b	T	A	8: 22,501,865 (GRCm39)	I833F	probably damaging	Het
Birc6	T	A	17: 75,009,336 (GRCm39)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,579,310 (GRCm39)	D1796N		Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cnga1	A	G	5: 72,762,647 (GRCm39)	I289T	probably benign	Het
Crybg1	C	A	10: 43,880,515 (GRCm39)	E224D	probably benign	Het
Dysf	T	C	6: 84,114,362 (GRCm39)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,647,469 (GRCm39)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam184a	T	C	10: 53,574,730 (GRCm39)	E293G	probably damaging	Het
Folh1	G	A	7: 86,380,956 (GRCm39)	P506S	probably benign	Het
Ftcd	A	T	10: 76,415,997 (GRCm39)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm39)	V6D	possibly damaging	Het
Ghitm	C	A	14: 36,853,538 (GRCm39)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,729,838 (GRCm39)	V136D	probably damaging	Het
Grm4	C	T	17: 27,654,345 (GRCm39)	G535D	probably damaging	Het
Hnrnpdl	A	G	5: 100,185,014 (GRCm39)	I279T	probably damaging	Het
Idi2l	T	A	13: 8,993,340 (GRCm39)	H51L	probably damaging	Het
Itpr1	T	C	6: 108,366,345 (GRCm39)	S923P	probably damaging	Het
Krt39	C	A	11: 99,408,887 (GRCm39)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,545,482 (GRCm39)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,503,487 (GRCm39)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 56,005,375 (GRCm39)	L226P	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,557,285 (GRCm39)	L125P	probably damaging	Het
Nid1	T	G	13: 13,656,636 (GRCm39)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,116,951 (GRCm39)	F225C	probably benign	Het
Notch3	C	T	17: 32,376,940 (GRCm39)	A322T	probably damaging	Het
Or14c43	A	G	7: 86,115,063 (GRCm39)	H148R	probably benign	Het
Or52a5b	G	T	7: 103,417,026 (GRCm39)	Q193K	probably benign	Het
Or7g34	T	A	9: 19,478,162 (GRCm39)	T173S	probably benign	Het
Otogl	A	G	10: 107,639,524 (GRCm39)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,603,625 (GRCm39)	D92V	probably benign	Het
Pigt	T	C	2: 164,344,419 (GRCm39)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,612,996 (GRCm39)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,126,326 (GRCm39)	F1344L	probably benign	Het
Polr1has	A	G	17: 37,275,275 (GRCm39)	D16G	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,922,452 (GRCm39)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,701,395 (GRCm39)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Raver2	T	A	4: 100,959,860 (GRCm39)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,589,765 (GRCm39)	D760G	unknown	Het
Rhobtb3	C	T	13: 76,058,860 (GRCm39)	V313M	probably benign	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf185	T	C	11: 3,376,578 (GRCm39)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,561,235 (GRCm39)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,091 (GRCm39)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,134,290 (GRCm39)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,554,992 (GRCm39)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,523,420 (GRCm39)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,404,263 (GRCm39)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,922,335 (GRCm39)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 63,858,723 (GRCm39)	M382L	probably benign	Het
Trrap	A	G	5: 144,788,019 (GRCm39)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,721,067 (GRCm39)	Y494*	probably null	Het
Ubr2	C	T	17: 47,275,714 (GRCm39)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,172,280 (GRCm39)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,869 (GRCm39)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,599,407 (GRCm39)	D364N	probably benign	Het
Vps45	C	A	3: 95,954,448 (GRCm39)		probably null	Het
Wdr25	A	C	12: 108,992,367 (GRCm39)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,806,310 (GRCm39)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,191,232 (GRCm39)	I343L	possibly damaging	Het
Zscan4b	T	C	7: 10,637,985 (GRCm39)	Q53R	possibly damaging	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
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
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'- CCGCTGTTGCTACGTCTGTG -3'
(R):5'- AGTTGCCGTTGACAAGGC -3'

Sequencing Primer
(F):5'- TACGTCTGTGGCTCGGC -3'
(R):5'- GTGTACAGTCCTCCCCACAGAG -3'

Posted On

2019-10-07