Mutagenetix > Incidental Mutation

Incidental Mutation 'R4542:Ssu72'

333572

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

041593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155789272-155818336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155817934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 163 (Q163R)

Ref Sequence

ENSEMBL: ENSMUSP00000030905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030905] [ENSMUST00000105595] [ENSMUST00000127188] [ENSMUST00000147721]

AlphaFold

Q9CY97

Predicted Effect

probably benign
Transcript: ENSMUST00000030905
AA Change: Q163R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030905
Gene: ENSMUSG00000029038
AA Change: Q163R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105595

SMART Domains

Protein: ENSMUSP00000101220
Gene: ENSMUSG00000029038

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127188

SMART Domains

Protein: ENSMUSP00000127341
Gene: ENSMUSG00000084845

Domain	Start	End	E-Value	Type
Pfam:TMEM240	1	173	3.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147721

SMART Domains

Protein: ENSMUSP00000130974
Gene: ENSMUSG00000084845

Domain	Start	End	E-Value	Type
Pfam:TMEM240	1	173	1.5e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178987

SMART Domains

Protein: ENSMUSP00000136958
Gene: ENSMUSG00000096221

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	41	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197451

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,875 (GRCm39)	L833Q	probably damaging	Het
Adcy6	C	G	15: 98,496,869 (GRCm39)	V469L	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	T	A	8: 104,937,591 (GRCm39)	F57I	probably damaging	Het
Brinp1	T	C	4: 68,680,329 (GRCm39)	I734V	probably benign	Het
Cab39l	C	A	14: 59,734,351 (GRCm39)	D23E	probably benign	Het
Cfap54	T	C	10: 92,860,991 (GRCm39)	T839A	probably benign	Het
Clgn	A	G	8: 84,146,838 (GRCm39)	E297G	probably damaging	Het
Crip1	A	G	12: 113,117,109 (GRCm39)	Y108C	probably damaging	Het
Cxcr2	A	G	1: 74,197,688 (GRCm39)	S61G	probably benign	Het
Dph5	T	C	3: 115,722,274 (GRCm39)	S251P	probably damaging	Het
E2f7	T	A	10: 110,602,984 (GRCm39)	V333E	probably damaging	Het
Eif4g3	A	G	4: 137,930,728 (GRCm39)	D918G	probably damaging	Het
Epn1	A	G	7: 5,096,980 (GRCm39)	E254G	possibly damaging	Het
Fat1	T	C	8: 45,494,931 (GRCm39)	C4065R	probably damaging	Het
Gja1	T	C	10: 56,264,148 (GRCm39)	F169S	probably damaging	Het
Kmt2b	A	G	7: 30,279,684 (GRCm39)	I1384T	probably damaging	Het
Ltbp2	A	T	12: 84,878,593 (GRCm39)	L302*	probably null	Het
Nalcn	T	C	14: 123,558,889 (GRCm39)		silent	Het
Nlrp1b	A	C	11: 71,119,151 (GRCm39)	L48W	probably damaging	Het
Nlrp4c	G	A	7: 6,103,826 (GRCm39)	W920*	probably null	Het
Nr2f1	C	T	13: 78,337,940 (GRCm39)	G235D	probably damaging	Het
Nt5dc2	T	A	14: 30,860,095 (GRCm39)	D374E	probably benign	Het
Or2d3	GAACAACAACAA	GAACAACAA	7: 106,490,567 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,850 (GRCm39)	D120G	probably damaging	Het
Or5ak23	T	C	2: 85,244,287 (GRCm39)	D312G	probably benign	Het
Pikfyve	T	C	1: 65,283,589 (GRCm39)	I742T	probably damaging	Het
Rftn1	A	G	17: 50,362,259 (GRCm39)		probably null	Het
Rfx1	G	A	8: 84,816,866 (GRCm39)	G466S	probably damaging	Het
Scn11a	A	T	9: 119,584,200 (GRCm39)	S1472T	probably damaging	Het
Sh2d4a	A	G	8: 68,799,394 (GRCm39)	Q421R	probably benign	Het
Slc25a10	G	A	11: 120,388,807 (GRCm39)		probably null	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spen	T	C	4: 141,204,097 (GRCm39)	Y1510C	unknown	Het
Stau1	A	G	2: 166,795,181 (GRCm39)	Y223H	probably damaging	Het
Syne3	A	T	12: 104,935,503 (GRCm39)	S92T	probably benign	Het
Ulbp1	T	C	10: 7,406,570 (GRCm39)	D45G	probably damaging	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Vmn1r67	A	G	7: 10,181,357 (GRCm39)	Y207C	probably damaging	Het
Vmn2r59	T	C	7: 41,695,497 (GRCm39)	D305G	possibly damaging	Het
Zbtb18	A	G	1: 177,276,232 (GRCm39)	K522E	probably damaging	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
R4851:Ssu72	UTSW	4	155,800,053 (GRCm39)	missense	possibly damaging	0.51
R5419:Ssu72	UTSW	4	155,800,007 (GRCm39)	missense	probably damaging	1.00
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'- TTTGAATCTAGCCGTCCCAC -3'
(R):5'- ACATTGATGATGTACACCTAGCAG -3'

Sequencing Primer
(F):5'- GCCGTCCCACTCCCAATATGG -3'
(R):5'- GATGATGTACACCTAGCAGTAAAAAC -3'

Posted On

2015-08-18