Mutagenetix > Incidental Mutation

Incidental Mutation 'R5419:Ssu72'

427913

Institutional Source

Beutler Lab

Gene Symbol

Ssu72

Ensembl Gene

ENSMUSG00000029038

Gene Name

Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)

Synonyms

2610101M12Rik, 1500011L16Rik, 1190002E22Rik

MMRRC Submission

042987-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155789272-155818336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155800007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 57 (F57L)

Ref Sequence

ENSEMBL: ENSMUSP00000101220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030905] [ENSMUST00000105595]

AlphaFold

Q9CY97

Predicted Effect

probably damaging
Transcript: ENSMUST00000030905
AA Change: F57L

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

SMART Domains

Protein: ENSMUSP00000030905
Gene: ENSMUSG00000029038
AA Change: F57L

Domain	Start	End	E-Value	Type
Pfam:Ssu72	6	194	1.3e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082982

Predicted Effect

probably damaging
Transcript: ENSMUST00000105595
AA Change: F57L

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

SMART Domains

Protein: ENSMUSP00000101220
Gene: ENSMUSG00000029038
AA Change: F57L

Domain	Start	End	E-Value	Type
Pfam:Ssu72	4	176	2.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140322

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,220,624 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,143,533 (GRCm39)		probably null	Het
Akap13	A	T	7: 75,259,991 (GRCm39)	T69S	probably benign	Het
Arl1	T	A	10: 88,572,966 (GRCm39)	C80S	probably damaging	Het
Bltp2	T	A	11: 78,162,916 (GRCm39)	L926*	probably null	Het
Brsk1	A	G	7: 4,712,003 (GRCm39)	T618A	possibly damaging	Het
Cep295	T	C	9: 15,235,533 (GRCm39)	H1982R	probably damaging	Het
Ces5a	A	T	8: 94,226,059 (GRCm39)	S559T	unknown	Het
Clcf1	A	G	19: 4,272,213 (GRCm39)	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Cobll1	A	T	2: 64,933,701 (GRCm39)	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,589,794 (GRCm39)	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,380,848 (GRCm39)	R126*	probably null	Het
Daam2	A	G	17: 49,787,782 (GRCm39)	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,275,621 (GRCm39)	C446S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eif2d	T	C	1: 131,086,035 (GRCm39)	*177R	probably null	Het
Fkbp15	G	A	4: 62,246,114 (GRCm39)	A438V	probably damaging	Het
Gjb5	G	A	4: 127,249,652 (GRCm39)	A164V	probably benign	Het
Grin1	A	T	2: 25,188,285 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,620,233 (GRCm39)	F337S	probably damaging	Het
Hey2	T	A	10: 30,710,019 (GRCm39)	T245S	probably benign	Het
Ifi206	T	C	1: 173,308,797 (GRCm39)	T400A	probably benign	Het
Itga7	G	A	10: 128,779,902 (GRCm39)	E480K	probably null	Het
Itpr1	T	C	6: 108,470,755 (GRCm39)	Y2227H	possibly damaging	Het
Krt8	T	C	15: 101,912,337 (GRCm39)	D113G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	A	G	7: 66,357,843 (GRCm39)		probably benign	Het
Lmf1	A	T	17: 25,881,610 (GRCm39)	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,786,992 (GRCm39)	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,620,716 (GRCm39)	C3587*	probably null	Het
Macf1	A	T	4: 123,290,917 (GRCm39)	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Myg1	A	T	15: 102,245,397 (GRCm39)	N206I	probably damaging	Het
Myl12a	T	G	17: 71,301,694 (GRCm39)	R144S	probably benign	Het
Myo5a	T	A	9: 75,055,179 (GRCm39)	I454K	probably damaging	Het
Nwd2	A	G	5: 63,965,051 (GRCm39)	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,061,181 (GRCm39)	D457E	probably damaging	Het
Or5ac20	T	A	16: 59,104,704 (GRCm39)	D52V	probably damaging	Het
Or9s18	A	C	13: 65,300,588 (GRCm39)	L183F	probably damaging	Het
Paf1	A	G	7: 28,095,095 (GRCm39)	I112V	possibly damaging	Het
Pate7	T	A	9: 35,689,407 (GRCm39)		probably null	Het
Pcdhga4	C	T	18: 37,819,798 (GRCm39)	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,127,234 (GRCm39)	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,148,267 (GRCm39)	I676F	probably damaging	Het
Rev3l	T	C	10: 39,700,927 (GRCm39)	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,550,586 (GRCm39)	S868P	probably damaging	Het
Shoc1	A	T	4: 59,049,017 (GRCm39)	M1116K	probably benign	Het
Slc47a2	A	G	11: 61,198,412 (GRCm39)	F428L	probably benign	Het
Slco1a7	C	T	6: 141,681,826 (GRCm39)		probably null	Het
Slco3a1	A	T	7: 73,934,363 (GRCm39)	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,642,090 (GRCm39)	C65*	probably null	Het
Tanc2	A	G	11: 105,813,709 (GRCm39)	T1718A	probably benign	Het
Tnks	G	C	8: 35,432,720 (GRCm39)	P34A	unknown	Het
Top3a	G	A	11: 60,653,348 (GRCm39)	T42I	probably damaging	Het
Trank1	T	C	9: 111,220,369 (GRCm39)	S2369P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,330,997 (GRCm39)	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,207,224 (GRCm39)	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,685,375 (GRCm39)	F129S	probably benign	Het

Other mutations in Ssu72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Ssu72	APN	4	155,816,483 (GRCm39)	missense	probably benign	0.37
IGL02601:Ssu72	APN	4	155,789,882 (GRCm39)	missense	possibly damaging	0.90
R1575:Ssu72	UTSW	4	155,815,814 (GRCm39)	missense	probably benign	0.03
R2145:Ssu72	UTSW	4	155,789,900 (GRCm39)	missense	probably damaging	0.98
R2517:Ssu72	UTSW	4	155,817,970 (GRCm39)	missense	probably damaging	1.00
R3935:Ssu72	UTSW	4	155,789,876 (GRCm39)	missense	probably benign	0.28
R4542:Ssu72	UTSW	4	155,817,934 (GRCm39)	missense	probably benign	0.00
R4851:Ssu72	UTSW	4	155,800,053 (GRCm39)	missense	possibly damaging	0.51
R6524:Ssu72	UTSW	4	155,799,997 (GRCm39)	missense	probably null	1.00
R7146:Ssu72	UTSW	4	155,815,850 (GRCm39)	missense	probably damaging	0.99
R7530:Ssu72	UTSW	4	155,815,786 (GRCm39)	missense	probably benign	0.00
R7996:Ssu72	UTSW	4	155,816,450 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGTTTGAGAGCCAGAGGAC -3'
(R):5'- CAGGTCCTGTTTCTCCTAAAACAC -3'

Sequencing Primer
(F):5'- TGTGTCCCCCTAAAAGAGAGTTG -3'
(R):5'- GTTTCTCCTAAAACACAGCCTG -3'

Posted On

2016-09-01