Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Gin1'

318895

Institutional Source

Beutler Lab

Gene Symbol

Gin1

Ensembl Gene

ENSMUSG00000026333

Gene Name

gypsy retrotransposon integrase 1

Synonyms

4930429M06, Zh2c2

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97770172-97793709 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97792420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

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: D380G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: D380G

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

possibly damaging
Transcript: ENSMUST00000112844
AA Change: D469G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: D469G

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Gin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Gin1	APN	1	97792372	missense	possibly damaging	0.95
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
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
R9480:Gin1	UTSW	1	97777473	missense	probably damaging	1.00
R9643:Gin1	UTSW	1	97784773	missense	probably benign	0.08
R9697:Gin1	UTSW	1	97785172	missense	probably benign	0.00
R9787:Gin1	UTSW	1	97775486	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCCTCACTTAATGTCTAGCTAT -3'
(R):5'- CATTCTGTGCAAGCATTTTACATTAA -3'

Sequencing Primer
(F):5'- AAATTGGTTTCCCGAGCCAG -3'
(R):5'- GTGCAAGCATTTTACATTAATTTTGG -3'

Posted On

2015-06-10