Mutagenetix > Incidental Mutation

Incidental Mutation 'R9314:Supt5'

705775

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 #

R9314 (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 28019799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 457 (D457V)

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: D457V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: D457V

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 benign
Transcript: ENSMUST00000208243

Predicted Effect

probably damaging
Transcript: ENSMUST00000209141
AA Change: D457V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,547,593 (GRCm39)	N260K	possibly damaging	Het
Anapc1	G	A	2: 128,464,420 (GRCm39)	S1692L	possibly damaging	Het
Brca2	A	G	5: 150,474,359 (GRCm39)	R2421G	probably damaging	Het
Cad	A	G	5: 31,234,988 (GRCm39)	Y2143C	probably damaging	Het
Calr3	T	A	8: 73,178,535 (GRCm39)	D356V	possibly damaging	Het
Cd207	T	A	6: 83,652,699 (GRCm39)	T144S	probably damaging	Het
Cntln	T	C	4: 84,924,719 (GRCm39)	L608P	probably damaging	Het
Dnah8	A	T	17: 30,990,857 (GRCm39)	Y3300F	probably benign	Het
Emb	T	C	13: 117,408,604 (GRCm39)	I315T	probably damaging	Het
Esr1	T	A	10: 4,916,181 (GRCm39)	V456E	possibly damaging	Het
Evpl	A	T	11: 116,118,503 (GRCm39)	H701Q	probably benign	Het
F5	C	T	1: 164,029,146 (GRCm39)	T1715I	probably benign	Het
Fut10	T	A	8: 31,691,504 (GRCm39)	H116Q	probably damaging	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,221,884 (GRCm39)	T62A	probably benign	Het
Hectd4	T	C	5: 121,437,708 (GRCm39)		probably null	Het
Ifit1bl1	G	C	19: 34,576,693 (GRCm39)	Q3E	probably benign	Het
Ighg3	A	T	12: 113,323,946 (GRCm39)	D147E		Het
Ighv8-13	A	G	12: 115,728,996 (GRCm39)	V87A	possibly damaging	Het
Kdelr1	A	G	7: 45,531,050 (GRCm39)	T160A	probably benign	Het
Kdm2a	A	G	19: 4,372,510 (GRCm39)	L945P	probably damaging	Het
Krt36	C	T	11: 99,994,227 (GRCm39)	W283*	probably null	Het
Lamp3	T	C	16: 19,492,192 (GRCm39)	M351V	probably benign	Het
Lox	C	G	18: 52,653,911 (GRCm39)	R395P	probably damaging	Het
Lrrtm3	T	C	10: 63,925,499 (GRCm39)		probably benign	Het
Madcam1	C	A	10: 79,501,481 (GRCm39)	T182K	probably damaging	Het
Megf8	T	A	7: 25,029,297 (GRCm39)	H280Q	probably damaging	Het
Mrgprb5	A	G	7: 47,818,174 (GRCm39)	I187T	probably benign	Het
Muc1	T	C	3: 89,138,825 (GRCm39)	V478A	probably damaging	Het
Mug1	T	G	6: 121,834,296 (GRCm39)	V359G	probably damaging	Het
Myh4	A	G	11: 67,151,141 (GRCm39)	H1932R	probably benign	Het
Naaladl1	A	C	19: 6,162,401 (GRCm39)	N448H	probably damaging	Het
Or52b1	A	T	7: 104,979,081 (GRCm39)	I106N	probably damaging	Het
Or5a1	C	T	19: 12,097,144 (GRCm39)	E311K	probably benign	Het
Pkd1l1	A	T	11: 8,829,153 (GRCm39)	Y1480N		Het
Poll	T	C	19: 45,547,091 (GRCm39)	E127G	probably benign	Het
Ppl	T	C	16: 4,922,367 (GRCm39)	N305S	possibly damaging	Het
Prss53	A	G	7: 127,490,039 (GRCm39)	V17A	probably benign	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef4	A	T	2: 72,064,983 (GRCm39)	H804L	possibly damaging	Het
Rassf8	A	G	6: 145,762,296 (GRCm39)	T356A	probably damaging	Het
Rptor	T	C	11: 119,786,772 (GRCm39)	S1246P	probably benign	Het
Setdb2	A	T	14: 59,650,240 (GRCm39)	I458N	probably benign	Het
Sgtb	A	G	13: 104,254,933 (GRCm39)	K68E	possibly damaging	Het
Slc19a3	T	G	1: 83,000,094 (GRCm39)	I308L	possibly damaging	Het
Slc22a5	T	C	11: 53,762,487 (GRCm39)	D320G	possibly damaging	Het
Slc34a2	T	C	5: 53,218,143 (GRCm39)	S141P	possibly damaging	Het
Slc37a2	T	C	9: 37,150,482 (GRCm39)	T158A	possibly damaging	Het
Slc7a1	T	C	5: 148,269,327 (GRCm39)	I598V	probably benign	Het
Sphk2	T	C	7: 45,361,158 (GRCm39)	D282G	probably damaging	Het
Spty2d1	G	T	7: 46,648,486 (GRCm39)	P148T	probably damaging	Het
Supt3	A	G	17: 45,352,250 (GRCm39)	T310A	probably benign	Het
Svep1	C	T	4: 58,070,347 (GRCm39)	G2480R	probably damaging	Het
Tbcd	T	C	11: 121,487,297 (GRCm39)	V803A	probably benign	Het
Tex2	A	T	11: 106,435,075 (GRCm39)	C784S	unknown	Het
Thrb	A	G	14: 17,963,208 (GRCm38)	H57R	probably benign	Het
Tmc4	T	C	7: 3,679,723 (GRCm39)	T34A	possibly damaging	Het
Tmprss2	T	C	16: 97,400,459 (GRCm39)	N4S	probably benign	Het
Trank1	A	G	9: 111,195,049 (GRCm39)	I1024M	probably damaging	Het
Trnau1ap	C	A	4: 132,056,697 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,566,710 (GRCm39)	V28061A	probably damaging	Het
Txnl4b	C	A	8: 110,299,331 (GRCm39)	P97Q	probably benign	Het
Ube4a	T	C	9: 44,854,023 (GRCm39)	T573A	probably benign	Het
Vit	A	T	17: 78,927,044 (GRCm39)	T330S	probably benign	Het
Wdr3	T	C	3: 100,050,288 (GRCm39)	I750V	probably benign	Het
Zfp59	C	T	7: 27,554,029 (GRCm39)	L494F	possibly 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
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'- TCTTCCAGGCACTTACCTCA -3'
(R):5'- GCTGTCAGCTTCTCACTGC -3'

Sequencing Primer
(F):5'- GCACTTACCTCATGCATGGTGAG -3'
(R):5'- ACAGATGGTTGTCAGCTACC -3'

Posted On

2022-03-25