Mutagenetix > Incidental Mutation

Incidental Mutation 'R9477:Supt5'

715863

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9477 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28014316-28038171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28025500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 249 (N249Y)

Ref Sequence

ENSEMBL: ENSMUSP00000003527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000207563] [ENSMUST00000208243] [ENSMUST00000209141]

AlphaFold

O55201

Predicted Effect

probably damaging
Transcript: ENSMUST00000003527
AA Change: N249Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: N249Y

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: ENSMUST00000207563

Predicted Effect

probably damaging
Transcript: ENSMUST00000208243
AA Change: N101Y

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209141
AA Change: N249Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	T	1: 89,765,485 (GRCm39)	M618L	probably benign	Het
Anxa2r2	A	T	13: 120,488,282 (GRCm39)	I89N	probably damaging	Het
App	C	A	16: 84,853,392 (GRCm39)	A229S	unknown	Het
B020011L13Rik	G	T	1: 117,728,903 (GRCm39)	E137*	probably null	Het
BC034090	C	T	1: 155,102,087 (GRCm39)	G59E	probably damaging	Het
C1ra	A	G	6: 124,499,455 (GRCm39)	D547G	probably benign	Het
Cdh2	A	T	18: 16,755,212 (GRCm39)	D774E	probably damaging	Het
Cdon	A	G	9: 35,403,201 (GRCm39)	N1104D	probably damaging	Het
Cecr2	G	A	6: 120,720,743 (GRCm39)		probably null	Het
Ces2b	A	T	8: 105,560,556 (GRCm39)	N124Y	probably damaging	Het
Cfap61	A	G	2: 145,985,032 (GRCm39)	T959A	probably benign	Het
Chaf1a	A	T	17: 56,369,244 (GRCm39)	K492*	probably null	Het
Clec14a	A	G	12: 58,314,620 (GRCm39)	V334A	probably benign	Het
Col6a3	A	G	1: 90,706,621 (GRCm39)	I2771T	unknown	Het
Creb3	T	C	4: 43,566,298 (GRCm39)	L244P	probably damaging	Het
Crispld1	T	C	1: 17,816,956 (GRCm39)	V171A	probably benign	Het
Crmp1	T	C	5: 37,446,182 (GRCm39)	Y613H	probably damaging	Het
Csrnp3	G	A	2: 65,852,819 (GRCm39)	V416I	probably benign	Het
Dhrs1	A	G	14: 55,976,868 (GRCm39)	V272A	probably benign	Het
Dip2b	T	C	15: 99,936,784 (GRCm39)	S32P	probably damaging	Het
Dpp10	G	T	1: 123,304,370 (GRCm39)	T510K	possibly damaging	Het
Dst	A	G	1: 34,205,292 (GRCm39)	Y820C	probably damaging	Het
Efcab3	A	T	11: 104,836,698 (GRCm39)	H3562L	unknown	Het
Fam3c	A	T	6: 22,308,479 (GRCm39)	M238K	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,265 (GRCm39)	F1263L	probably damaging	Het
Fcrl2	A	T	3: 87,159,803 (GRCm39)	C484S	probably damaging	Het
Fsd1	T	C	17: 56,295,720 (GRCm39)	L97P	possibly damaging	Het
Gapdhs	T	C	7: 30,431,682 (GRCm39)	I310V	probably damaging	Het
Gimap4	A	T	6: 48,667,314 (GRCm39)	N23I	probably benign	Het
Gpr21	T	A	2: 37,408,386 (GRCm39)	F311I	probably damaging	Het
Grm1	T	C	10: 10,595,405 (GRCm39)	E741G	probably benign	Het
Gsto2	G	A	19: 47,864,911 (GRCm39)	R148H	probably benign	Het
Gzmd	A	G	14: 56,368,813 (GRCm39)	V27A	probably benign	Het
Hbp1	A	G	12: 31,980,766 (GRCm39)	C446R	probably damaging	Het
Hmcn2	A	T	2: 31,286,031 (GRCm39)		probably null	Het
Ifi205	G	A	1: 173,854,155 (GRCm39)	T166I	probably benign	Het
Il23a	T	A	10: 128,133,922 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,936,409 (GRCm39)	C362S	probably damaging	Het
Jmjd1c	A	T	10: 66,993,734 (GRCm39)	R72*	probably null	Het
Kcna6	A	G	6: 126,716,361 (GRCm39)	I176T	probably damaging	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Mast1	T	C	8: 85,638,779 (GRCm39)	K1517E	probably benign	Het
Mbnl1	A	G	3: 60,520,769 (GRCm39)	D119G	probably damaging	Het
Mfsd8	A	G	3: 40,785,057 (GRCm39)		probably null	Het
Mtus2	T	G	5: 148,014,740 (GRCm39)	V511G	probably benign	Het
Myot	A	C	18: 44,470,333 (GRCm39)	Q103H	probably benign	Het
Nrip2	G	A	6: 128,377,145 (GRCm39)	D24N	probably benign	Het
Ntm	T	A	9: 29,322,922 (GRCm39)	S33C	probably benign	Het
Nus1	C	T	10: 52,294,001 (GRCm39)	T55M	possibly damaging	Het
Or4c112	G	A	2: 88,853,615 (GRCm39)	T244I	probably benign	Het
Pik3cb	C	T	9: 98,922,973 (GRCm39)		probably null	Het
Pogk	T	C	1: 166,227,404 (GRCm39)	N249S	probably damaging	Het
Pou1f1	C	T	16: 65,320,503 (GRCm39)	T66I	possibly damaging	Het
Ppp1r42	T	G	1: 10,055,854 (GRCm39)	K211N	probably damaging	Het
Ppp2r3d	C	A	9: 124,476,857 (GRCm38)	D2Y		Het
Prdm5	A	T	6: 65,771,342 (GRCm39)	N51I	possibly damaging	Het
Rif1	G	A	2: 52,001,342 (GRCm39)	A1599T	probably benign	Het
Sema3c	G	A	5: 17,921,981 (GRCm39)	A520T		Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spice1	T	A	16: 44,197,183 (GRCm39)	N489K	possibly damaging	Het
Sptbn4	A	G	7: 27,132,624 (GRCm39)	M116T	possibly damaging	Het
Tex2	A	G	11: 106,410,706 (GRCm39)		probably null	Het
Trhde	T	A	10: 114,338,980 (GRCm39)	E610V	probably benign	Het
Trmt12	T	C	15: 58,745,471 (GRCm39)	S290P	possibly damaging	Het
Trpm2	C	T	10: 77,747,224 (GRCm39)	V1425M	probably benign	Het
Uaca	T	C	9: 60,778,108 (GRCm39)	S832P	probably benign	Het
Vcan	T	A	13: 89,841,128 (GRCm39)	D1472V	probably damaging	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Vmn1r125	T	G	7: 21,006,261 (GRCm39)	V53G	possibly damaging	Het
Vmn2r27	A	T	6: 124,168,910 (GRCm39)	I740N	probably damaging	Het
Vmn2r70	C	T	7: 85,218,244 (GRCm39)	C18Y	possibly damaging	Het
Zfp35	A	G	18: 24,136,188 (GRCm39)	I177M	possibly damaging	Het
Zfp532	T	C	18: 65,777,428 (GRCm39)	I895T	probably benign	Het
Zfp58	C	A	13: 67,640,158 (GRCm39)	C111F	probably damaging	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
R4792:Supt5	UTSW	7	28,015,754 (GRCm39)	missense	probably benign	0.19
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
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'- TGCTCTTGGCTCTCGGAAAG -3'
(R):5'- TTCTGTGAACTCACTGCCTGG -3'

Sequencing Primer
(F):5'- AGAAGTGCAGTGTATATGATGAACAC -3'
(R):5'- GAGCCAAGAGTAGTATCCTGACTTTC -3'

Posted On

2022-06-15