Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Supt20'

457773

Institutional Source

Beutler Lab

Gene Symbol

Supt20

Ensembl Gene

ENSMUSG00000027751

Gene Name

suppressor of Ty 20

Synonyms

Fam48a, p38IP, D3Ertd300e, p38 interacting protein

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54692807-54728766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54712207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 370 (W370L)

Ref Sequence

ENSEMBL: ENSMUSP00000143059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000170552] [ENSMUST00000178832] [ENSMUST00000197502] [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 benign
Transcript: ENSMUST00000170552
AA Change: W371L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131454
Gene: ENSMUSG00000027751
AA Change: W371L

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 benign
Transcript: ENSMUST00000197502
AA Change: W370L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
AA Change: W370L

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: ENSMUST00000199674
AA Change: W370L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
AA Change: W370L

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 benign
Transcript: ENSMUST00000200439
AA Change: W370L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
AA Change: W370L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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
IGL02656:Supt20	APN	3	54708395	missense	probably damaging	1.00
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
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
R9694:Supt20	UTSW	3	54715594	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- CCTTTAGTGCCATGTATATAGCAGAC -3'
(R):5'- ACACACTGTTCTGTATCAGGTACC -3'

Sequencing Primer
(F):5'- CCATGTATATAGCAGACAGAAGTTAG -3'
(R):5'- TCATCAGCTAGCAAGCAG -3'

Posted On

2017-02-15