Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Gspt1'

280648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gspt1

Ensembl Gene

ENSMUSG00000062203

Gene Name

G1 to S phase transition 1

Synonyms

Gst-1, G1st, Gst-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

11037156-11072189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11047080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 445 (K445R)

Ref Sequence

ENSEMBL: ENSMUSP00000130583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080030] [ENSMUST00000167571]

AlphaFold

Q8R050

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080030
AA Change: K446R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: K446R

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
Pfam:PAM2	64	81	4.3e-8	PFAM
low complexity region	101	116	N/A	INTRINSIC
low complexity region	151	193	N/A	INTRINSIC
Pfam:GTP_EFTU	209	482	3.1e-47	PFAM
Pfam:GTP_EFTU_D2	451	518	1.2e-8	PFAM
Pfam:GTP_EFTU_D3	524	632	7.6e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166063

Predicted Effect

probably benign
Transcript: ENSMUST00000167025

SMART Domains

Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU_D3	18	96	2.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167571
AA Change: K445R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: K445R

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
Pfam:PAM2	64	81	7.1e-8	PFAM
low complexity region	101	116	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
Pfam:GTP_EFTU	208	476	4.3e-49	PFAM
Pfam:GTP_EFTU_D2	450	517	1.3e-7	PFAM
Pfam:GTP_EFTU_D3	523	631	2.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230245

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,750,905 (GRCm39)	Q833*	probably null	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Myom1	G	T	17: 71,399,132 (GRCm39)	R998L	probably damaging	Het
Nacc2	A	G	2: 25,979,960 (GRCm39)	S159P	probably benign	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,436,238 (GRCm39)	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Tspan32	A	T	7: 142,569,372 (GRCm39)	I144F	probably damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	probably damaging	Het

Other mutations in Gspt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Gspt1	APN	16	11,040,476 (GRCm39)	missense	probably damaging	0.99
IGL00902:Gspt1	APN	16	11,050,443 (GRCm39)	missense	probably damaging	1.00
IGL00983:Gspt1	APN	16	11,048,861 (GRCm39)	splice site	probably benign
IGL01775:Gspt1	APN	16	11,041,159 (GRCm39)	missense	possibly damaging	0.92
IGL02079:Gspt1	APN	16	11,058,693 (GRCm39)	missense	probably benign	0.17
IGL02525:Gspt1	APN	16	11,048,854 (GRCm39)	missense	probably damaging	1.00
IGL03092:Gspt1	APN	16	11,056,763 (GRCm39)	missense	probably benign	0.11
goliad	UTSW	16	11,042,406 (GRCm39)	missense	probably benign	0.04
R0835:Gspt1	UTSW	16	11,056,802 (GRCm39)	missense	probably benign
R1519:Gspt1	UTSW	16	11,038,719 (GRCm39)	missense	probably damaging	1.00
R3410:Gspt1	UTSW	16	11,047,109 (GRCm39)	missense	probably damaging	1.00
R4834:Gspt1	UTSW	16	11,040,581 (GRCm39)	missense	probably damaging	1.00
R4866:Gspt1	UTSW	16	11,040,529 (GRCm39)	missense	possibly damaging	0.69
R5121:Gspt1	UTSW	16	11,041,165 (GRCm39)	missense	probably damaging	0.99
R5408:Gspt1	UTSW	16	11,071,719 (GRCm39)	missense	probably benign
R5410:Gspt1	UTSW	16	11,048,374 (GRCm39)	missense	probably benign	0.00
R5517:Gspt1	UTSW	16	11,071,843 (GRCm39)	missense	unknown
R5704:Gspt1	UTSW	16	11,046,057 (GRCm39)	missense	possibly damaging	0.89
R6224:Gspt1	UTSW	16	11,042,406 (GRCm39)	missense	probably benign	0.04
R6317:Gspt1	UTSW	16	11,041,072 (GRCm39)	splice site	probably null
R7069:Gspt1	UTSW	16	11,040,525 (GRCm39)	missense	probably damaging	1.00
R7151:Gspt1	UTSW	16	11,071,692 (GRCm39)	missense	probably benign	0.05
R7317:Gspt1	UTSW	16	11,040,521 (GRCm39)	missense	probably benign	0.01
R8137:Gspt1	UTSW	16	11,058,532 (GRCm39)	missense	probably benign	0.00
R9401:Gspt1	UTSW	16	11,050,535 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16