Mutagenetix > Incidental Mutation

Incidental Mutation 'R8066:Ctr9'

620001

Institutional Source

Beutler Lab

Gene Symbol

Ctr9

Ensembl Gene

ENSMUSG00000005609

Gene Name

CTR9 homolog, Paf1/RNA polymerase II complex component

Synonyms

Sh2bp1, Tsp, Tsbp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8066 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110628158-110655584 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 110633104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 117 (Y117*)

Ref Sequence

ENSEMBL: ENSMUSP00000005749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005749]

AlphaFold

Q62018

Predicted Effect

probably null
Transcript: ENSMUST00000005749
AA Change: Y117*

SMART Domains

Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: Y117*

Domain	Start	End	E-Value	Type
TPR	163	196	2.26e-3	SMART
TPR	198	231	2e-4	SMART
low complexity region	232	241	N/A	INTRINSIC
TPR	306	339	4.52e-3	SMART
TPR	341	374	1.39e-3	SMART
TPR	451	484	3.56e-1	SMART
TPR	497	530	7.34e-3	SMART
TPR	531	564	3.24e-4	SMART
Blast:TPR	565	598	2e-14	BLAST
TPR	681	714	9.03e-3	SMART
TPR	717	750	1.6e1	SMART
coiled coil region	828	889	N/A	INTRINSIC
low complexity region	892	916	N/A	INTRINSIC
low complexity region	923	928	N/A	INTRINSIC
low complexity region	932	1002	N/A	INTRINSIC
low complexity region	1005	1028	N/A	INTRINSIC
low complexity region	1034	1050	N/A	INTRINSIC
low complexity region	1072	1090	N/A	INTRINSIC
low complexity region	1133	1159	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,780,689 (GRCm39)	V177A	probably benign	Het
Acsm2	C	A	7: 119,190,548 (GRCm39)	T517K	probably damaging	Het
Adam29	T	G	8: 56,325,703 (GRCm39)	L250F	probably benign	Het
Ankrd37	T	C	8: 46,450,726 (GRCm39)	D135G	probably benign	Het
Armh4	T	C	14: 50,005,980 (GRCm39)	T572A	possibly damaging	Het
Aspa	T	C	11: 73,204,372 (GRCm39)	K199E	possibly damaging	Het
Aurka	A	T	2: 172,212,338 (GRCm39)	I13K	probably benign	Het
Bag6	A	G	17: 35,361,283 (GRCm39)	D446G	unknown	Het
Bcar3	A	T	3: 122,318,573 (GRCm39)	I654F	probably damaging	Het
Ccdc188	A	T	16: 18,037,058 (GRCm39)	N210Y	probably damaging	Het
Ccdc25	A	T	14: 66,083,751 (GRCm39)	D28V	possibly damaging	Het
Ccn5	G	T	2: 163,670,862 (GRCm39)	C123F	probably damaging	Het
Cdc37	C	T	9: 21,054,437 (GRCm39)	E63K	probably benign	Het
Chrm4	T	A	2: 91,758,042 (GRCm39)	L150H	probably damaging	Het
Col5a2	A	T	1: 45,452,628 (GRCm39)		probably null	Het
Cyp4f37	C	A	17: 32,854,047 (GRCm39)	R499S	probably benign	Het
Egr4	T	C	6: 85,489,277 (GRCm39)	Y261C	probably damaging	Het
Fanca	A	T	8: 124,030,679 (GRCm39)	C468S	unknown	Het
Gart	T	C	16: 91,436,335 (GRCm39)	N141D	probably benign	Het
Get4	G	A	5: 139,249,293 (GRCm39)	V126M	probably damaging	Het
Gja3	T	C	14: 57,273,263 (GRCm39)	S370G	probably benign	Het
Gopc	T	C	10: 52,230,812 (GRCm39)	K162R	probably benign	Het
Grpel1	A	G	5: 36,626,889 (GRCm39)	D57G	probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kcnma1	A	G	14: 23,361,744 (GRCm39)	L1149P	probably benign	Het
Lmbrd2	G	A	15: 9,172,172 (GRCm39)	R322Q	probably benign	Het
Lrrc59	T	C	11: 94,525,426 (GRCm39)	L74P	possibly damaging	Het
Mcam	G	T	9: 44,052,257 (GRCm39)	K589N	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,342,562 (GRCm39)	L813Q	possibly damaging	Het
Oga	T	C	19: 45,760,291 (GRCm39)	K289R	probably damaging	Het
Or10h1	T	C	17: 33,418,126 (GRCm39)	F35L	probably benign	Het
Or14a260	A	T	7: 85,985,014 (GRCm39)	C197S	probably benign	Het
Or52b1	C	T	7: 104,978,761 (GRCm39)	V213I	possibly damaging	Het
Pcdhga8	A	T	18: 37,859,435 (GRCm39)	I164L	probably benign	Het
Pck2	C	A	14: 55,781,858 (GRCm39)	P251H	probably benign	Het
Phip	A	T	9: 82,757,351 (GRCm39)	I1607K	probably benign	Het
Piwil2	T	C	14: 70,658,168 (GRCm39)	T220A	probably benign	Het
Plch1	G	A	3: 63,618,478 (GRCm39)	Q686*	probably null	Het
Pnpla2	A	G	7: 141,039,581 (GRCm39)	*487W	probably null	Het
Prdm14	C	A	1: 13,184,540 (GRCm39)	G544C	probably benign	Het
Psg22	A	G	7: 18,452,218 (GRCm39)	E45G	possibly damaging	Het
Psmb5	T	C	14: 54,851,698 (GRCm39)	D249G	probably benign	Het
Pstpip1	A	G	9: 56,033,913 (GRCm39)	I296V	probably benign	Het
S1pr3	T	A	13: 51,573,955 (GRCm39)	*379R	probably null	Het
Smc3	G	A	19: 53,603,576 (GRCm39)	R57H	probably damaging	Het
Spata31g1	C	A	4: 42,971,929 (GRCm39)	Q421K	possibly damaging	Het
Srcap	T	A	7: 127,139,484 (GRCm39)	H1268Q	possibly damaging	Het
Srcap	C	T	7: 127,120,804 (GRCm39)	R155C	probably damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Svep1	A	G	4: 58,113,650 (GRCm39)	V999A	probably benign	Het
Tchp	T	A	5: 114,847,472 (GRCm39)	L97Q	probably benign	Het
Tex46	G	A	4: 136,340,265 (GRCm39)	V117M	probably benign	Het
Tnnc2	T	A	2: 164,619,661 (GRCm39)	I102F	possibly damaging	Het
Trbv5	T	A	6: 41,039,326 (GRCm39)	C12S	probably damaging	Het
Trub2	T	A	2: 29,667,867 (GRCm39)	T258S	possibly damaging	Het
Uba3	T	A	6: 97,178,882 (GRCm39)	N87I	probably damaging	Het
Vmn1r160	A	T	7: 22,571,315 (GRCm39)	I223F	probably damaging	Het
Vmn1r192	G	T	13: 22,371,565 (GRCm39)	Y218*	probably null	Het
Vmn1r8	A	G	6: 57,013,419 (GRCm39)	M157V	probably benign	Het
Vps53	T	C	11: 76,027,133 (GRCm39)	E127G	probably damaging	Het
Vsig10	G	T	5: 117,489,849 (GRCm39)	E538D	probably benign	Het
Zfp647	A	T	15: 76,796,095 (GRCm39)	H188Q	probably damaging	Het

Other mutations in Ctr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Ctr9	APN	7	110,648,538 (GRCm39)	missense	probably damaging	1.00
IGL02379:Ctr9	APN	7	110,650,726 (GRCm39)	missense	probably damaging	0.99
IGL02451:Ctr9	APN	7	110,642,631 (GRCm39)	nonsense	probably null
IGL03222:Ctr9	APN	7	110,642,257 (GRCm39)	missense	probably benign	0.41
R0023:Ctr9	UTSW	7	110,643,154 (GRCm39)	missense	possibly damaging	0.83
R0023:Ctr9	UTSW	7	110,643,154 (GRCm39)	missense	possibly damaging	0.83
R0586:Ctr9	UTSW	7	110,648,705 (GRCm39)	splice site	probably benign
R0761:Ctr9	UTSW	7	110,645,479 (GRCm39)	missense	probably damaging	0.97
R0834:Ctr9	UTSW	7	110,650,159 (GRCm39)	missense	probably benign	0.06
R1593:Ctr9	UTSW	7	110,642,060 (GRCm39)	missense	possibly damaging	0.82
R1711:Ctr9	UTSW	7	110,654,870 (GRCm39)	missense	unknown
R1828:Ctr9	UTSW	7	110,643,165 (GRCm39)	splice site	probably null
R1838:Ctr9	UTSW	7	110,651,510 (GRCm39)	missense	possibly damaging	0.93
R2037:Ctr9	UTSW	7	110,646,014 (GRCm39)	missense	probably benign	0.04
R2171:Ctr9	UTSW	7	110,646,117 (GRCm39)	missense	possibly damaging	0.69
R2512:Ctr9	UTSW	7	110,646,078 (GRCm39)	missense	probably damaging	1.00
R2850:Ctr9	UTSW	7	110,652,653 (GRCm39)	missense	unknown
R2851:Ctr9	UTSW	7	110,652,653 (GRCm39)	missense	unknown
R3124:Ctr9	UTSW	7	110,652,653 (GRCm39)	missense	unknown
R4049:Ctr9	UTSW	7	110,654,750 (GRCm39)	missense	unknown
R4280:Ctr9	UTSW	7	110,645,930 (GRCm39)	intron	probably benign
R4350:Ctr9	UTSW	7	110,648,525 (GRCm39)	missense	probably damaging	1.00
R4352:Ctr9	UTSW	7	110,648,525 (GRCm39)	missense	probably damaging	1.00
R4460:Ctr9	UTSW	7	110,646,101 (GRCm39)	missense	probably benign	0.01
R4740:Ctr9	UTSW	7	110,634,578 (GRCm39)	missense	probably benign	0.31
R5039:Ctr9	UTSW	7	110,642,064 (GRCm39)	missense	probably benign	0.28
R5216:Ctr9	UTSW	7	110,644,665 (GRCm39)	missense	possibly damaging	0.68
R5647:Ctr9	UTSW	7	110,654,751 (GRCm39)	missense	unknown
R5677:Ctr9	UTSW	7	110,643,209 (GRCm39)	missense	probably benign	0.45
R6907:Ctr9	UTSW	7	110,629,449 (GRCm39)	missense	probably damaging	1.00
R7371:Ctr9	UTSW	7	110,633,014 (GRCm39)	missense	probably damaging	0.99
R7391:Ctr9	UTSW	7	110,642,378 (GRCm39)	nonsense	probably null
R7405:Ctr9	UTSW	7	110,642,921 (GRCm39)	missense	possibly damaging	0.90
R7406:Ctr9	UTSW	7	110,652,615 (GRCm39)	missense	unknown
R7502:Ctr9	UTSW	7	110,633,133 (GRCm39)	missense	probably benign	0.26
R7760:Ctr9	UTSW	7	110,645,808 (GRCm39)	missense	probably damaging	1.00
R7814:Ctr9	UTSW	7	110,633,134 (GRCm39)	missense	probably benign	0.08
R7870:Ctr9	UTSW	7	110,651,618 (GRCm39)	missense	unknown
R8026:Ctr9	UTSW	7	110,633,099 (GRCm39)	missense	probably damaging	1.00
R8035:Ctr9	UTSW	7	110,633,664 (GRCm39)	missense	probably damaging	1.00
R8080:Ctr9	UTSW	7	110,650,774 (GRCm39)	missense	possibly damaging	0.91
R8789:Ctr9	UTSW	7	110,642,933 (GRCm39)	missense	possibly damaging	0.82
R8840:Ctr9	UTSW	7	110,642,237 (GRCm39)	missense	probably damaging	0.96
R9015:Ctr9	UTSW	7	110,643,108 (GRCm39)	missense	probably benign	0.01
Z1088:Ctr9	UTSW	7	110,629,431 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTGCCTAAAGCTGGAATAC -3'
(R):5'- AGTTTGAGGACGAATGCGATTC -3'

Sequencing Primer
(F):5'- TTGCCTAAAGCTGGAATACTACAAGC -3'
(R):5'- GAGGACGAATGCGATTCTAATTTC -3'

Posted On

2020-01-23