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: 0.190) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120229711 bp (GRCm38)

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: 120,435,908 (GRCm38)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073 (GRCm38)	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151 (GRCm38)	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499 (GRCm38)	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363 (GRCm38)	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849 (GRCm38)	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341 (GRCm38)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349 (GRCm38)	D1796N		Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304 (GRCm38)	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519 (GRCm38)	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380 (GRCm38)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020 (GRCm38)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193 (GRCm38)		probably null	Het
Fam172a	A	G	13: 77,759,442 (GRCm38)	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634 (GRCm38)	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748 (GRCm38)	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163 (GRCm38)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm38)	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581 (GRCm38)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904 (GRCm38)	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304 (GRCm38)	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371 (GRCm38)	G535D	probably damaging	Het
Hnrnpdl	A	G	5: 100,037,155 (GRCm38)	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384 (GRCm38)	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061 (GRCm38)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521 (GRCm38)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488 (GRCm38)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918 (GRCm38)	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285 (GRCm38)	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051 (GRCm38)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526 (GRCm38)	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966 (GRCm38)	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855 (GRCm38)	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819 (GRCm38)	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866 (GRCm38)	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663 (GRCm38)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597 (GRCm38)	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499 (GRCm38)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222 (GRCm38)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552 (GRCm38)	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551 (GRCm38)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586 (GRCm38)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032 (GRCm38)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663 (GRCm38)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565 (GRCm38)	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741 (GRCm38)	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578 (GRCm38)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036 (GRCm38)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652 (GRCm38)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946 (GRCm38)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993 (GRCm38)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tenm4	A	T	7: 96,874,213 (GRCm38)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838 (GRCm38)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361 (GRCm38)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975 (GRCm38)	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209 (GRCm38)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233 (GRCm38)	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788 (GRCm38)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543 (GRCm38)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895 (GRCm38)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145 (GRCm38)	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136 (GRCm38)		probably null	Het
Wdr25	A	C	12: 109,026,441 (GRCm38)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681 (GRCm38)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005 (GRCm38)	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383 (GRCm38)	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058 (GRCm38)	Q53R	possibly damaging	Het

Other mutations in Gse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Gse1	APN	8	120,553,587 (GRCm38)	start codon destroyed	probably null	0.79
IGL02484:Gse1	APN	8	120,575,262 (GRCm38)	intron	probably benign
IGL02931:Gse1	APN	8	120,578,069 (GRCm38)	intron	probably benign
IGL03193:Gse1	APN	8	120,571,340 (GRCm38)	critical splice donor site	probably null
R0027:Gse1	UTSW	8	120,566,546 (GRCm38)	intron	probably benign
R0109:Gse1	UTSW	8	120,567,785 (GRCm38)	missense	probably damaging	1.00
R0257:Gse1	UTSW	8	120,572,334 (GRCm38)	intron	probably benign
R0967:Gse1	UTSW	8	120,570,855 (GRCm38)	intron	probably benign
R1395:Gse1	UTSW	8	120,574,999 (GRCm38)	intron	probably benign
R1480:Gse1	UTSW	8	120,572,394 (GRCm38)	intron	probably benign
R1532:Gse1	UTSW	8	120,568,210 (GRCm38)	intron	probably benign
R1649:Gse1	UTSW	8	120,578,515 (GRCm38)	intron	probably benign
R1728:Gse1	UTSW	8	120,568,253 (GRCm38)	intron	probably benign
R1742:Gse1	UTSW	8	120,566,950 (GRCm38)	missense	probably damaging	1.00
R1784:Gse1	UTSW	8	120,568,253 (GRCm38)	intron	probably benign
R2081:Gse1	UTSW	8	120,566,480 (GRCm38)	missense	probably damaging	1.00
R2110:Gse1	UTSW	8	120,566,980 (GRCm38)	missense	probably damaging	1.00
R2974:Gse1	UTSW	8	120,570,897 (GRCm38)	intron	probably benign
R3615:Gse1	UTSW	8	120,572,742 (GRCm38)	intron	probably benign
R3616:Gse1	UTSW	8	120,572,742 (GRCm38)	intron	probably benign
R3857:Gse1	UTSW	8	120,571,133 (GRCm38)	intron	probably benign
R4201:Gse1	UTSW	8	120,567,764 (GRCm38)	missense	probably benign	0.39
R4494:Gse1	UTSW	8	120,570,814 (GRCm38)	intron	probably benign
R4857:Gse1	UTSW	8	120,572,757 (GRCm38)	intron	probably benign
R4911:Gse1	UTSW	8	120,568,466 (GRCm38)	intron	probably benign
R5640:Gse1	UTSW	8	120,562,677 (GRCm38)	missense	possibly damaging	0.65
R5782:Gse1	UTSW	8	120,566,521 (GRCm38)	missense	probably damaging	1.00
R5980:Gse1	UTSW	8	120,229,637 (GRCm38)	intron	probably benign
R6090:Gse1	UTSW	8	120,571,169 (GRCm38)	intron	probably benign
R6156:Gse1	UTSW	8	120,489,127 (GRCm38)	missense	possibly damaging	0.95
R6191:Gse1	UTSW	8	120,553,803 (GRCm38)	critical splice donor site	probably null
R6270:Gse1	UTSW	8	120,569,163 (GRCm38)	intron	probably benign
R6502:Gse1	UTSW	8	120,553,689 (GRCm38)	splice site	probably null
R6573:Gse1	UTSW	8	120,567,797 (GRCm38)	missense	probably damaging	1.00
R6885:Gse1	UTSW	8	120,229,482 (GRCm38)	intron	probably benign
R6901:Gse1	UTSW	8	120,229,822 (GRCm38)	intron	probably benign
R6959:Gse1	UTSW	8	120,570,971 (GRCm38)	intron	probably benign
R7023:Gse1	UTSW	8	120,230,648 (GRCm38)	intron	probably benign
R7210:Gse1	UTSW	8	120,230,702 (GRCm38)	missense	unknown
R7263:Gse1	UTSW	8	120,574,171 (GRCm38)	missense	unknown
R7602:Gse1	UTSW	8	120,569,304 (GRCm38)	missense	unknown
R7627:Gse1	UTSW	8	120,572,777 (GRCm38)	missense	unknown
R7635:Gse1	UTSW	8	120,572,895 (GRCm38)	missense	unknown
R7689:Gse1	UTSW	8	120,568,478 (GRCm38)	missense	unknown
R8108:Gse1	UTSW	8	120,229,810 (GRCm38)	missense	unknown
R8326:Gse1	UTSW	8	120,578,580 (GRCm38)	missense	unknown
R8474:Gse1	UTSW	8	120,568,384 (GRCm38)	intron	probably benign
R8544:Gse1	UTSW	8	120,553,652 (GRCm38)	missense	probably damaging	1.00
R8783:Gse1	UTSW	8	120,576,378 (GRCm38)	missense	unknown
R8817:Gse1	UTSW	8	120,567,803 (GRCm38)	missense	probably damaging	1.00
R8886:Gse1	UTSW	8	120,570,731 (GRCm38)	missense	unknown
R8896:Gse1	UTSW	8	120,576,446 (GRCm38)	missense	unknown
R9044:Gse1	UTSW	8	120,230,530 (GRCm38)	missense	unknown
R9130:Gse1	UTSW	8	120,568,313 (GRCm38)	missense	unknown
R9185:Gse1	UTSW	8	120,568,169 (GRCm38)	missense	possibly damaging	0.95
R9398:Gse1	UTSW	8	120,576,335 (GRCm38)	missense	unknown
R9430:Gse1	UTSW	8	120,572,310 (GRCm38)	missense	unknown
R9471:Gse1	UTSW	8	120,575,106 (GRCm38)	missense	unknown
R9696:Gse1	UTSW	8	120,229,541 (GRCm38)	missense	unknown
R9797:Gse1	UTSW	8	120,489,125 (GRCm38)	missense	probably damaging	0.99
X0026:Gse1	UTSW	8	120,568,163 (GRCm38)	nonsense	probably null
Z1177:Gse1	UTSW	8	120,229,852 (GRCm38)	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