Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02656:Supt20'

302350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Supt20

Ensembl Gene

ENSMUSG00000027751

Gene Name

suppressor of Ty 20

Synonyms

Fam48a, p38IP, D3Ertd300e, p38 interacting protein

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.930) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

54692807-54728766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54708395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 236 (R236W)

Ref Sequence

ENSEMBL: ENSMUSP00000143750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000170552] [ENSMUST00000178832] [ENSMUST00000197502] [ENSMUST00000199652] [ENSMUST00000199655] [ENSMUST00000199674] [ENSMUST00000200439] [ENSMUST00000200441]

AlphaFold

Q7TT00

Predicted Effect

probably benign
Transcript: ENSMUST00000029315

SMART Domains

Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	107	159	N/A	INTRINSIC
coiled coil region	201	230	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170552
AA Change: R237W

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

SMART Domains

Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: R237W

Domain	Start	End	E-Value	Type
Pfam:Spt20	63	229	6.8e-47	PFAM
low complexity region	425	441	N/A	INTRINSIC
low complexity region	468	477	N/A	INTRINSIC
low complexity region	488	502	N/A	INTRINSIC
low complexity region	515	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178832

Predicted Effect

probably damaging
Transcript: ENSMUST00000197502
AA Change: R236W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: R236W

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	62	227	1.9e-43	PFAM
low complexity region	424	440	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	487	501	N/A	INTRINSIC
low complexity region	512	532	N/A	INTRINSIC
low complexity region	574	587	N/A	INTRINSIC
low complexity region	632	680	N/A	INTRINSIC
coiled coil region	722	751	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198745

Predicted Effect

probably benign
Transcript: ENSMUST00000199652

SMART Domains

Protein: ENSMUSP00000142648
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	59	181	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199655

SMART Domains

Protein: ENSMUSP00000143520
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	62	140	5.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199674
AA Change: R236W

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

SMART Domains

Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: R236W

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	59	227	3.3e-39	PFAM
low complexity region	424	442	N/A	INTRINSIC
low complexity region	466	475	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200439
AA Change: R236W

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

SMART Domains

Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: R236W

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	59	227	2.7e-42	PFAM
low complexity region	424	440	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	487	501	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200441

SMART Domains

Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	123	171	N/A	INTRINSIC
coiled coil region	213	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200450

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Supt20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Supt20	APN	3	54715169	missense	probably damaging	0.98
IGL01781:Supt20	APN	3	54695205	start codon destroyed	probably null	0.47
IGL02510:Supt20	APN	3	54715524	intron	probably benign
IGL02958:Supt20	APN	3	54713723	intron	probably benign
IGL03036:Supt20	APN	3	54709302	nonsense	probably null
IGL03128:Supt20	APN	3	54708287	missense	probably benign	0.05
IGL03164:Supt20	APN	3	54713188	missense	probably benign	0.01
FR4304:Supt20	UTSW	3	54727647	small insertion	probably benign
FR4304:Supt20	UTSW	3	54727662	small insertion	probably benign
FR4304:Supt20	UTSW	3	54727664	nonsense	probably null
FR4449:Supt20	UTSW	3	54727649	small insertion	probably benign
FR4548:Supt20	UTSW	3	54727657	small insertion	probably benign
FR4548:Supt20	UTSW	3	54727664	small insertion	probably benign
FR4548:Supt20	UTSW	3	54727673	small insertion	probably benign
FR4589:Supt20	UTSW	3	54727651	small insertion	probably benign
FR4589:Supt20	UTSW	3	54727655	small insertion	probably benign
FR4589:Supt20	UTSW	3	54727671	small insertion	probably benign
FR4737:Supt20	UTSW	3	54727657	small insertion	probably benign
FR4737:Supt20	UTSW	3	54727658	small insertion	probably benign
FR4737:Supt20	UTSW	3	54727661	small insertion	probably benign
R0383:Supt20	UTSW	3	54703149	nonsense	probably null
R0675:Supt20	UTSW	3	54706969	missense	probably damaging	1.00
R0744:Supt20	UTSW	3	54714701	missense	probably damaging	1.00
R0968:Supt20	UTSW	3	54708400	intron	probably benign
R1075:Supt20	UTSW	3	54706941	nonsense	probably null
R1689:Supt20	UTSW	3	54712162	nonsense	probably null
R1772:Supt20	UTSW	3	54710420	missense	probably damaging	1.00
R1779:Supt20	UTSW	3	54714743	missense	probably benign	0.00
R1829:Supt20	UTSW	3	54727658	utr 3 prime	probably benign
R3236:Supt20	UTSW	3	54709080	missense	possibly damaging	0.94
R3237:Supt20	UTSW	3	54709080	missense	possibly damaging	0.94
R4989:Supt20	UTSW	3	54695134	utr 5 prime	probably benign
R5180:Supt20	UTSW	3	54709085	missense	probably benign	0.00
R5188:Supt20	UTSW	3	54710428	missense	possibly damaging	0.87
R5423:Supt20	UTSW	3	54709325	missense	probably damaging	1.00
R5627:Supt20	UTSW	3	54713190	missense	possibly damaging	0.86
R5888:Supt20	UTSW	3	54712207	missense	probably benign
R5995:Supt20	UTSW	3	54709053	missense	probably damaging	0.97
R6316:Supt20	UTSW	3	54727648	small insertion	probably benign
R6623:Supt20	UTSW	3	54718294	missense	possibly damaging	0.93
R6713:Supt20	UTSW	3	54698601	missense	possibly damaging	0.89
R6874:Supt20	UTSW	3	54727754	splice site	probably null
R6988:Supt20	UTSW	3	54698597	missense	probably damaging	1.00
R7149:Supt20	UTSW	3	54728411	missense	unknown
R7592:Supt20	UTSW	3	54707122	missense	probably damaging	0.97
R7940:Supt20	UTSW	3	54713199	missense	probably benign	0.04
R8480:Supt20	UTSW	3	54707116	missense	probably damaging	1.00
R8550:Supt20	UTSW	3	54715642	missense	possibly damaging	0.48
R8935:Supt20	UTSW	3	54727567	critical splice acceptor site	probably null
R9412:Supt20	UTSW	3	54727648	small deletion	probably benign
R9414:Supt20	UTSW	3	54703083	missense	probably damaging	1.00
RF001:Supt20	UTSW	3	54727662	small insertion	probably benign
RF009:Supt20	UTSW	3	54727662	small insertion	probably benign
RF010:Supt20	UTSW	3	54727662	small insertion	probably benign
RF014:Supt20	UTSW	3	54727665	small insertion	probably benign
RF026:Supt20	UTSW	3	54727647	small insertion	probably benign
RF026:Supt20	UTSW	3	54727670	nonsense	probably null
RF032:Supt20	UTSW	3	54727666	small insertion	probably benign
RF038:Supt20	UTSW	3	54727647	small insertion	probably benign
RF045:Supt20	UTSW	3	54727666	small insertion	probably benign
RF052:Supt20	UTSW	3	54727665	small insertion	probably benign

Posted On

2015-04-16