Mutagenetix > Incidental Mutation

Incidental Mutation 'R1607:Gin1'

176526

Institutional Source

Beutler Lab

Gene Symbol

Gin1

Ensembl Gene

ENSMUSG00000026333

Gene Name

gypsy retrotransposon integrase 1

Synonyms

4930429M06, Zh2c2

MMRRC Submission

039644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97770172-97793709 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97786150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 392 (I392F)

Ref Sequence

ENSEMBL: ENSMUSP00000108464 (fasta)

Gene Model

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

AlphaFold

Q8K259

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027571
AA Change: I303F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: I303F

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 damaging
Transcript: ENSMUST00000112844
AA Change: I392F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: I392F

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: ENSMUST00000189031

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,251,291 (GRCm38)	P789S	probably damaging	Het
Adam17	T	A	12: 21,334,138 (GRCm38)		probably null	Het
Afdn	C	T	17: 13,810,501 (GRCm38)	R224W	probably damaging	Het
Als2	A	G	1: 59,180,147 (GRCm38)	Y1215H	probably damaging	Het
Anks1b	A	T	10: 90,042,548 (GRCm38)	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,906,861 (GRCm38)	F259S	probably damaging	Het
Cenpv	A	T	11: 62,525,176 (GRCm38)	M249K	probably benign	Het
Ces1d	C	T	8: 93,186,118 (GRCm38)	V231I	probably benign	Het
Clasp1	G	A	1: 118,504,959 (GRCm38)	V460I	probably damaging	Het
Cnot10	A	T	9: 114,629,095 (GRCm38)	Y114*	probably null	Het
Cpb1	G	T	3: 20,263,782 (GRCm38)	R193S	probably benign	Het
Ctc1	T	C	11: 69,036,150 (GRCm38)	S1207P	possibly damaging	Het
Cttnbp2	T	A	6: 18,435,433 (GRCm38)	K142M	probably damaging	Het
Dhrs7b	T	G	11: 60,851,891 (GRCm38)	D136E	probably benign	Het
Dnah7b	T	C	1: 46,290,646 (GRCm38)	S3217P	probably damaging	Het
Eif4g3	C	T	4: 138,126,563 (GRCm38)	S480L	probably benign	Het
Enah	A	T	1: 181,917,197 (GRCm38)		probably null	Het
Epx	T	C	11: 87,868,712 (GRCm38)	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,976,663 (GRCm38)	D43V	probably damaging	Het
Gdf9	A	T	11: 53,437,511 (GRCm38)	E431D	possibly damaging	Het
Ghr	T	C	15: 3,320,574 (GRCm38)	D374G	probably damaging	Het
Greb1l	A	G	18: 10,529,703 (GRCm38)	E786G	possibly damaging	Het
Grk4	T	C	5: 34,731,538 (GRCm38)	V342A	probably benign	Het
Hhipl2	A	T	1: 183,423,524 (GRCm38)	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,071,708 (GRCm38)	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,175,732 (GRCm38)	D163H	probably benign	Het
Kif11	A	T	19: 37,387,200 (GRCm38)	K190*	probably null	Het
Ldb2	T	G	5: 44,473,472 (GRCm38)	E309A	probably damaging	Het
Lipo4	T	G	19: 33,512,673 (GRCm38)	D143A	probably damaging	Het
Map3k6	T	G	4: 133,252,473 (GRCm38)	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,015,409 (GRCm38)	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,091,573 (GRCm38)	V60I	probably benign	Het
Nup133	A	G	8: 123,949,035 (GRCm38)	F48L	probably benign	Het
Olfr1131	T	A	2: 87,628,977 (GRCm38)	N171K	probably benign	Het
Olfr1357	G	T	10: 78,612,140 (GRCm38)	T167N	probably benign	Het
Olfr1362	A	C	13: 21,611,764 (GRCm38)	F68L	probably benign	Het
Pcdhb21	A	T	18: 37,515,479 (GRCm38)	N554Y	probably damaging	Het
Pcx	A	T	19: 4,603,159 (GRCm38)	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,467,119 (GRCm38)	S203P	probably damaging	Het
Pdlim3	A	T	8: 45,896,859 (GRCm38)	I69F	probably damaging	Het
Pkp4	T	C	2: 59,322,554 (GRCm38)	V598A	probably benign	Het
Plbd1	T	C	6: 136,612,306 (GRCm38)	I509V	probably benign	Het
Polr3b	C	A	10: 84,652,783 (GRCm38)	T319N	probably benign	Het
Ptprj	T	C	2: 90,463,320 (GRCm38)	D380G	probably benign	Het
Ralgapa1	T	G	12: 55,741,536 (GRCm38)	R587S	probably damaging	Het
Scn5a	C	A	9: 119,486,092 (GRCm38)	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,944,043 (GRCm38)	T1132K	probably benign	Het
Stard7	T	A	2: 127,295,486 (GRCm38)	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,613,487 (GRCm38)	R439W	probably damaging	Het
Tecrl	T	C	5: 83,280,508 (GRCm38)		probably null	Het
Tep1	A	T	14: 50,824,563 (GRCm38)	L2570Q	probably null	Het
Tex14	A	T	11: 87,554,928 (GRCm38)	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,063,019 (GRCm38)		probably null	Het
Tmem132e	A	G	11: 82,437,370 (GRCm38)	K408R	probably benign	Het
Tube1	A	G	10: 39,144,766 (GRCm38)	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm38)	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,379,419 (GRCm38)	H412R	possibly damaging	Het
Wtip	T	C	7: 34,116,595 (GRCm38)	E352G	probably damaging	Het
Xirp2	T	A	2: 67,510,295 (GRCm38)	L960*	probably null	Het
Zc3h11a	A	C	1: 133,624,687 (GRCm38)	S561A	probably benign	Het
Zfhx2	A	T	14: 55,062,985 (GRCm38)	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,019,907 (GRCm38)	H88R	probably benign	Het

Other mutations in Gin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Gin1	APN	1	97,792,372 (GRCm38)	missense	possibly damaging	0.95
IGL01508:Gin1	APN	1	97,777,437 (GRCm38)	missense	probably benign
IGL01874:Gin1	APN	1	97,783,072 (GRCm38)	missense	probably damaging	1.00
R0136:Gin1	UTSW	1	97,783,016 (GRCm38)	missense	possibly damaging	0.86
R0299:Gin1	UTSW	1	97,783,016 (GRCm38)	missense	possibly damaging	0.86
R1302:Gin1	UTSW	1	97,775,589 (GRCm38)	nonsense	probably null
R1675:Gin1	UTSW	1	97,786,055 (GRCm38)	nonsense	probably null
R1739:Gin1	UTSW	1	97,786,104 (GRCm38)	missense	probably damaging	0.99
R1769:Gin1	UTSW	1	97,792,437 (GRCm38)	missense	probably benign	0.02
R1817:Gin1	UTSW	1	97,785,226 (GRCm38)	splice site	probably null
R1818:Gin1	UTSW	1	97,785,226 (GRCm38)	splice site	probably null
R1819:Gin1	UTSW	1	97,785,226 (GRCm38)	splice site	probably null
R1907:Gin1	UTSW	1	97,775,447 (GRCm38)	unclassified	probably benign
R2325:Gin1	UTSW	1	97,792,561 (GRCm38)	missense	probably damaging	1.00
R4206:Gin1	UTSW	1	97,792,420 (GRCm38)	missense	possibly damaging	0.90
R4571:Gin1	UTSW	1	97,785,076 (GRCm38)	missense	probably damaging	1.00
R4576:Gin1	UTSW	1	97,792,339 (GRCm38)	missense	probably damaging	1.00
R4670:Gin1	UTSW	1	97,784,840 (GRCm38)	missense	probably damaging	1.00
R4671:Gin1	UTSW	1	97,784,840 (GRCm38)	missense	probably damaging	1.00
R5659:Gin1	UTSW	1	97,775,532 (GRCm38)	missense	possibly damaging	0.95
R6360:Gin1	UTSW	1	97,792,539 (GRCm38)	missense	possibly damaging	0.90
R7035:Gin1	UTSW	1	97,792,375 (GRCm38)	missense	possibly damaging	0.92
R7229:Gin1	UTSW	1	97,785,151 (GRCm38)	missense	probably benign	0.02
R8269:Gin1	UTSW	1	97,783,204 (GRCm38)	missense	probably damaging	0.98
R8877:Gin1	UTSW	1	97,783,216 (GRCm38)	missense	possibly damaging	0.47
R9149:Gin1	UTSW	1	97,783,094 (GRCm38)	missense	probably damaging	1.00
R9480:Gin1	UTSW	1	97,777,473 (GRCm38)	missense	probably damaging	1.00
R9643:Gin1	UTSW	1	97,784,773 (GRCm38)	missense	probably benign	0.08
R9697:Gin1	UTSW	1	97,785,172 (GRCm38)	missense	probably benign	0.00
R9787:Gin1	UTSW	1	97,775,486 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTCAGGAGCAGTTCAATAATAGCA -3'
(R):5'- TTGTGGAAACTAACACCCTAGAGAGGT -3'

Sequencing Primer
(F):5'- GGAGCAGTTCAATAATAGCATTGCC -3'
(R):5'- GAGGTAGCAGATACTTACCCTG -3'

Posted On

2014-04-24