Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Gin1'

88550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gin1

Ensembl Gene

ENSMUSG00000026333

Gene Name

gypsy retrotransposon integrase 1

Synonyms

4930429M06, Zh2c2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

97770172-97793709 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97792372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 364 (T364I)

Ref Sequence

ENSEMBL: ENSMUSP00000027571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027571] [ENSMUST00000112844] [ENSMUST00000138142]

AlphaFold

Q8K259

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027571
AA Change: T364I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: T364I

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
SCOP:d1exqa_	112	208	2e-5	SMART
low complexity region	254	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112844
AA Change: T453I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: T453I

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
PDB:4IKF\|B	84	289	3e-8	PDB
SCOP:d1exqa_	145	297	4e-16	SMART
low complexity region	343	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138142

Predicted Effect

probably benign
Transcript: ENSMUST00000159041

SMART Domains

Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335

Domain	Start	End	E-Value	Type
low complexity region	37	44	N/A	INTRINSIC
Pfam:NHL	50	78	4.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Gin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Gin1	APN	1	97777437	missense	probably benign
IGL01874:Gin1	APN	1	97783072	missense	probably damaging	1.00
R0136:Gin1	UTSW	1	97783016	missense	possibly damaging	0.86
R0299:Gin1	UTSW	1	97783016	missense	possibly damaging	0.86
R1302:Gin1	UTSW	1	97775589	nonsense	probably null
R1607:Gin1	UTSW	1	97786150	missense	probably damaging	1.00
R1675:Gin1	UTSW	1	97786055	nonsense	probably null
R1739:Gin1	UTSW	1	97786104	missense	probably damaging	0.99
R1769:Gin1	UTSW	1	97792437	missense	probably benign	0.02
R1817:Gin1	UTSW	1	97785226	splice site	probably null
R1818:Gin1	UTSW	1	97785226	splice site	probably null
R1819:Gin1	UTSW	1	97785226	splice site	probably null
R1907:Gin1	UTSW	1	97775447	unclassified	probably benign
R2325:Gin1	UTSW	1	97792561	missense	probably damaging	1.00
R4206:Gin1	UTSW	1	97792420	missense	possibly damaging	0.90
R4571:Gin1	UTSW	1	97785076	missense	probably damaging	1.00
R4576:Gin1	UTSW	1	97792339	missense	probably damaging	1.00
R4670:Gin1	UTSW	1	97784840	missense	probably damaging	1.00
R4671:Gin1	UTSW	1	97784840	missense	probably damaging	1.00
R5659:Gin1	UTSW	1	97775532	missense	possibly damaging	0.95
R6360:Gin1	UTSW	1	97792539	missense	possibly damaging	0.90
R7035:Gin1	UTSW	1	97792375	missense	possibly damaging	0.92
R7229:Gin1	UTSW	1	97785151	missense	probably benign	0.02
R8269:Gin1	UTSW	1	97783204	missense	probably damaging	0.98
R8877:Gin1	UTSW	1	97783216	missense	possibly damaging	0.47
R9149:Gin1	UTSW	1	97783094	missense	probably damaging	1.00

Posted On

2013-11-18