Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Ctr9'

253444

Institutional Source

Beutler Lab

Gene Symbol

Ctr9

Ensembl Gene

ENSMUSG00000005609

Gene Name

CTR9 homolog, Paf1/RNA polymerase II complex component

Synonyms

Sh2bp1, Tsp, Tsbp

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110628158-110655584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110646078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 690 (I690S)

Ref Sequence

ENSEMBL: ENSMUSP00000005749 (fasta)

Gene Model

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

AlphaFold

Q62018

Predicted Effect

probably damaging
Transcript: ENSMUST00000005749
AA Change: I690S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: I690S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	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
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
R8066:Ctr9	UTSW	7	110,633,104 (GRCm39)	nonsense	probably null
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'- TTTCCTGTTCAGTGCAGCATTTAG -3'
(R):5'- GTGGAATTGCGGCTCATAGC -3'

Sequencing Primer
(F):5'- CAGTGCAGCATTTAGTATTGGAC -3'
(R):5'- GAATTGCGGCTCATAGCTACCTG -3'

Posted On

2014-12-04