Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Supt5'

368671

Institutional Source

Beutler Lab

Gene Symbol

Supt5

Ensembl Gene

ENSMUSG00000003435

Gene Name

suppressor of Ty 5, DSIF elongation factor subunit

Synonyms

Spt5, Supt5h

MMRRC Submission

042419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28014316-28038171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28015754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 863 (Q863K)

Ref Sequence

ENSEMBL: ENSMUSP00000147164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000081946] [ENSMUST00000207563] [ENSMUST00000209141]

AlphaFold

O55201

Predicted Effect

probably benign
Transcript: ENSMUST00000003527
AA Change: Q863K

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: Q863K

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
coiled coil region	36	63	N/A	INTRINSIC
Pfam:Spt5_N	73	170	8.1e-17	PFAM
NGN	174	265	2.2e-14	SMART
KOW	270	297	8.77e0	SMART
KOW	417	444	8.69e-4	SMART
KOW	469	496	9.1e-7	SMART
KOW	591	618	2.46e-3	SMART
low complexity region	677	695	N/A	INTRINSIC
KOW	697	724	3.93e-2	SMART
CTD	766	902	2.09e-31	SMART
KOW	1028	1055	9.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081946

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
CPDc	146	274	1.33e-41	SMART
low complexity region	313	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136427

Predicted Effect

probably benign
Transcript: ENSMUST00000207563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207649

Predicted Effect

probably benign
Transcript: ENSMUST00000209141
AA Change: Q863K

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207879

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	G	16: 88,504,651 (GRCm39)	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,796,657 (GRCm39)		probably null	Het
Adgb	G	A	10: 10,274,647 (GRCm39)	T770I	probably damaging	Het
Adgre4	A	T	17: 56,098,491 (GRCm39)	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Alox5	C	A	6: 116,437,964 (GRCm39)	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,603,191 (GRCm39)	T392A	possibly damaging	Het
Apob	A	G	12: 8,058,051 (GRCm39)	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,625,717 (GRCm39)	Y196H	possibly damaging	Het
Armh2	A	G	13: 24,930,490 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,251,173 (GRCm39)	L439S	probably damaging	Het
Carmil1	A	T	13: 24,325,659 (GRCm39)	S224T	possibly damaging	Het
Cfh	G	A	1: 140,028,561 (GRCm39)	Q706*	probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Chrna5	A	T	9: 54,911,985 (GRCm39)	I158F	probably damaging	Het
Cilk1	A	G	9: 78,060,975 (GRCm39)	D207G	probably damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cul7	T	A	17: 46,967,976 (GRCm39)	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,353,588 (GRCm39)	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,125,275 (GRCm39)	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,066,651 (GRCm39)	M2573T	probably damaging	Het
Dnai4	T	C	4: 102,929,881 (GRCm39)	K370R	possibly damaging	Het
Edem1	T	A	6: 108,805,707 (GRCm39)		probably benign	Het
Erp29	C	T	5: 121,585,237 (GRCm39)	E86K	probably benign	Het
Esrp2	C	A	8: 106,859,141 (GRCm39)	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,420,330 (GRCm39)		probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Herc1	T	A	9: 66,403,266 (GRCm39)	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgb2	G	A	8: 57,966,344 (GRCm39)	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,209,481 (GRCm39)		probably benign	Het
Hsd3b1	T	A	3: 98,760,226 (GRCm39)	Y255F	probably benign	Het
Ighd	T	C	12: 113,379,819 (GRCm39)	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,752,191 (GRCm39)	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,542,419 (GRCm39)	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,970,668 (GRCm39)		probably benign	Het
Itk	C	T	11: 46,235,658 (GRCm39)		probably benign	Het
Kat6a	T	A	8: 23,430,592 (GRCm39)	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,374,686 (GRCm39)	V391I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgr6	T	A	1: 134,949,544 (GRCm39)	S229C	probably benign	Het
Lhx9	T	A	1: 138,766,089 (GRCm39)	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mapk4	T	C	18: 74,070,321 (GRCm39)	T191A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naglu	C	T	11: 100,961,932 (GRCm39)	T135M	probably damaging	Het
Nomo1	T	A	7: 45,693,643 (GRCm39)		probably null	Het
Nop56	T	A	2: 130,119,784 (GRCm39)	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,046,164 (GRCm39)	C283Y	probably damaging	Het
Or4x6	T	A	2: 89,949,174 (GRCm39)	Y256F	possibly damaging	Het
Or51d1	G	A	7: 102,347,933 (GRCm39)	G163R	probably damaging	Het
Or6c38	T	G	10: 128,929,489 (GRCm39)	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,802,452 (GRCm39)	S99G	probably benign	Het
Pcnx1	T	A	12: 81,965,925 (GRCm39)	D697E	probably damaging	Het
Plxnb1	G	A	9: 108,939,716 (GRCm39)	D1462N	probably damaging	Het
Pnn	G	T	12: 59,118,991 (GRCm39)	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,375,463 (GRCm39)	D1062E	probably damaging	Het
Prss35	T	A	9: 86,637,722 (GRCm39)	V164E	probably damaging	Het
Psapl1	T	C	5: 36,362,547 (GRCm39)	S380P	probably benign	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,874,135 (GRCm39)	T79A	probably damaging	Het
Sbf2	T	C	7: 109,950,817 (GRCm39)	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,556,592 (GRCm39)	D331G	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sspo	G	A	6: 48,438,519 (GRCm39)	S1529N	probably benign	Het
St8sia3	T	A	18: 64,398,634 (GRCm39)	V31E	probably benign	Het
Sult1b1	A	T	5: 87,662,906 (GRCm39)	W265R	probably damaging	Het
Tbc1d31	A	G	15: 57,804,124 (GRCm39)	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,577,845 (GRCm39)	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tpx2	A	T	2: 152,727,016 (GRCm39)	T428S	probably damaging	Het
Trip11	A	T	12: 101,851,705 (GRCm39)	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,615 (GRCm39)	M322L	probably benign	Het
Try10	T	C	6: 41,332,386 (GRCm39)	V14A	probably benign	Het
Unc13d	A	T	11: 115,961,108 (GRCm39)	F416L	probably damaging	Het
Vmn2r75	A	T	7: 85,812,378 (GRCm39)	M547K	possibly damaging	Het
Zbp1	A	G	2: 173,051,006 (GRCm39)	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,568,436 (GRCm39)	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,396,008 (GRCm39)	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,578,078 (GRCm39)	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,128 (GRCm39)	Y82*	probably null	Het
Zfp964	T	C	8: 70,116,665 (GRCm39)	F422L	probably benign	Het

Other mutations in Supt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Supt5	APN	7	28,014,807 (GRCm39)	missense	probably benign	0.08
IGL01077:Supt5	APN	7	28,023,213 (GRCm39)	nonsense	probably null
IGL01477:Supt5	APN	7	28,016,689 (GRCm39)	missense	possibly damaging	0.94
IGL01813:Supt5	APN	7	28,023,400 (GRCm39)	missense	probably damaging	0.99
IGL02405:Supt5	APN	7	28,015,249 (GRCm39)	missense	probably benign	0.00
IGL02525:Supt5	APN	7	28,018,372 (GRCm39)	splice site	probably benign
IGL02584:Supt5	APN	7	28,025,592 (GRCm39)	missense	probably benign	0.08
IGL03387:Supt5	APN	7	28,019,508 (GRCm39)	missense	possibly damaging	0.89
R0420:Supt5	UTSW	7	28,016,754 (GRCm39)	splice site	probably benign
R0715:Supt5	UTSW	7	28,028,462 (GRCm39)	missense	probably damaging	1.00
R1226:Supt5	UTSW	7	28,028,172 (GRCm39)	missense	probably benign	0.03
R1655:Supt5	UTSW	7	28,029,449 (GRCm39)	missense	probably benign	0.00
R1801:Supt5	UTSW	7	28,016,639 (GRCm39)	critical splice donor site	probably null
R2424:Supt5	UTSW	7	28,014,590 (GRCm39)	missense	possibly damaging	0.47
R2883:Supt5	UTSW	7	28,028,745 (GRCm39)	missense	possibly damaging	0.75
R4280:Supt5	UTSW	7	28,016,498 (GRCm39)	missense	probably damaging	1.00
R4614:Supt5	UTSW	7	28,025,397 (GRCm39)	missense	possibly damaging	0.65
R4997:Supt5	UTSW	7	28,015,462 (GRCm39)	missense	probably benign	0.05
R5041:Supt5	UTSW	7	28,014,805 (GRCm39)	missense	probably damaging	1.00
R5062:Supt5	UTSW	7	28,028,440 (GRCm39)	splice site	probably null
R5119:Supt5	UTSW	7	28,015,795 (GRCm39)	missense	probably damaging	1.00
R5170:Supt5	UTSW	7	28,015,508 (GRCm39)	missense	probably benign	0.05
R5687:Supt5	UTSW	7	28,017,188 (GRCm39)	missense	probably benign	0.27
R5720:Supt5	UTSW	7	28,021,993 (GRCm39)	missense	probably damaging	0.97
R5935:Supt5	UTSW	7	28,028,900 (GRCm39)	missense	probably benign	0.09
R6032:Supt5	UTSW	7	28,015,600 (GRCm39)	missense	probably damaging	1.00
R6032:Supt5	UTSW	7	28,015,600 (GRCm39)	missense	probably damaging	1.00
R6049:Supt5	UTSW	7	28,014,622 (GRCm39)	missense	probably benign	0.32
R7043:Supt5	UTSW	7	28,019,435 (GRCm39)	missense	probably benign	0.00
R7085:Supt5	UTSW	7	28,030,914 (GRCm39)	missense	unknown
R7152:Supt5	UTSW	7	28,023,325 (GRCm39)	missense	probably benign	0.00
R7201:Supt5	UTSW	7	28,016,213 (GRCm39)	missense	probably benign	0.03
R7401:Supt5	UTSW	7	28,023,197 (GRCm39)	missense	probably damaging	0.99
R7959:Supt5	UTSW	7	28,015,224 (GRCm39)	missense	probably benign	0.43
R8181:Supt5	UTSW	7	28,030,899 (GRCm39)	missense	unknown
R8998:Supt5	UTSW	7	28,037,848 (GRCm39)	missense	unknown
R8999:Supt5	UTSW	7	28,037,848 (GRCm39)	missense	unknown
R9021:Supt5	UTSW	7	28,016,671 (GRCm39)	missense	probably damaging	0.98
R9314:Supt5	UTSW	7	28,019,799 (GRCm39)	missense	probably damaging	0.99
R9345:Supt5	UTSW	7	28,016,412 (GRCm39)	missense	probably benign	0.03
R9477:Supt5	UTSW	7	28,025,500 (GRCm39)	missense	probably damaging	0.99
R9568:Supt5	UTSW	7	28,014,688 (GRCm39)	missense	probably damaging	1.00
Z1177:Supt5	UTSW	7	28,016,456 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GAGAACTGGTCTGTGTTGTACC -3'
(R):5'- TTAGTGTCAGGAAGCCTTTGC -3'

Sequencing Primer
(F):5'- CTGTGTTGTACCTGTAGACAGAAG -3'
(R):5'- ATTTCTTCGGCCAGAGTGAAG -3'

Posted On

2016-02-04