Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Ctr9'

442800

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

043316-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110628158-110655584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110643209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 527 (H527R)

Ref Sequence

ENSEMBL: ENSMUSP00000005749 (fasta)

Gene Model

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

AlphaFold

Q62018

Predicted Effect

probably benign
Transcript: ENSMUST00000005749
AA Change: H527R

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: H527R

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: ENSMUST00000146558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157025

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,225 (GRCm39)	V22I	probably benign	Het
Abca8a	A	T	11: 109,929,225 (GRCm39)	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,831,687 (GRCm39)	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,111,914 (GRCm39)	M926I	probably damaging	Het
Aff4	G	T	11: 53,291,102 (GRCm39)	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,638,322 (GRCm39)	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,565,567 (GRCm39)	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147 (GRCm39)	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,368,370 (GRCm39)	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,664,704 (GRCm39)	T881I	unknown	Het
Apbb1	A	C	7: 105,208,453 (GRCm39)	D617E	probably damaging	Het
Apobec4	A	G	1: 152,633,033 (GRCm39)	R354G	probably benign	Het
Brdt	T	G	5: 107,496,483 (GRCm39)	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,569,370 (GRCm39)	H851Q	possibly damaging	Het
Car2	G	T	3: 14,963,115 (GRCm39)	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,727,077 (GRCm39)		probably benign	Het
Chodl	C	A	16: 78,738,203 (GRCm39)	A57E	probably damaging	Het
Clgn	G	T	8: 84,136,167 (GRCm39)	C185F	probably damaging	Het
Cltc	G	T	11: 86,596,068 (GRCm39)	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,458,161 (GRCm39)	N115S	probably damaging	Het
Col12a1	T	C	9: 79,606,603 (GRCm39)	R607G	probably damaging	Het
Cpd	A	G	11: 76,690,651 (GRCm39)	V835A	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Csmd3	G	C	15: 48,485,447 (GRCm39)	L153V	probably damaging	Het
Cwc22	G	A	2: 77,759,787 (GRCm39)	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,505,106 (GRCm39)	N107K	probably benign	Het
Dgkg	C	A	16: 22,388,921 (GRCm39)	V418L	probably benign	Het
Dhx40	A	G	11: 86,691,789 (GRCm39)		probably null	Het
Diaph1	A	T	18: 37,989,004 (GRCm39)	M910K	probably damaging	Het
Diras2	T	A	13: 52,661,711 (GRCm39)	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock5	T	A	14: 68,015,052 (GRCm39)	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,058,967 (GRCm39)	S90P	probably benign	Het
E2f8	A	T	7: 48,516,943 (GRCm39)	V812E	probably damaging	Het
Egfem1	C	A	3: 29,744,323 (GRCm39)	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,864,475 (GRCm39)	C699*	probably null	Het
Fgf3	C	T	7: 144,392,520 (GRCm39)	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,334,365 (GRCm39)	I42L	probably benign	Het
Gm3159	T	A	14: 4,398,582 (GRCm38)	M91K	probably damaging	Het
Gprin3	A	G	6: 59,330,877 (GRCm39)	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,203 (GRCm39)		probably null	Het
Hepacam2	A	T	6: 3,466,142 (GRCm39)	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,485,529 (GRCm39)	W4358R	probably benign	Het
Ifna6	G	A	4: 88,745,956 (GRCm39)	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,552,142 (GRCm39)	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,743,242 (GRCm39)	Q47L	possibly damaging	Het
Il16	T	C	7: 83,323,761 (GRCm39)	E263G	probably damaging	Het
Kansl1	A	T	11: 104,225,974 (GRCm39)	C981S	probably benign	Het
Lrp1	A	T	10: 127,410,298 (GRCm39)	F1483I	probably damaging	Het
Ltf	T	C	9: 110,849,980 (GRCm39)	M1T	probably null	Het
Ly75	C	T	2: 60,129,426 (GRCm39)	R1653H	probably benign	Het
Macrod2	T	C	2: 142,018,587 (GRCm39)	F240S	probably damaging	Het
Man1c1	T	C	4: 134,296,371 (GRCm39)	E433G	probably damaging	Het
Mansc4	A	T	6: 146,983,047 (GRCm39)	M130K	probably benign	Het
Mccc1	C	T	3: 36,044,197 (GRCm39)		probably null	Het
Mink1	G	T	11: 70,495,991 (GRCm39)	R75L	possibly damaging	Het
Mst1	A	G	9: 107,958,485 (GRCm39)	D65G	probably damaging	Het
Myo9b	C	T	8: 71,796,330 (GRCm39)	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,574 (GRCm39)	V70A	probably benign	Het
Npat	T	A	9: 53,466,400 (GRCm39)	S230T	probably benign	Het
Nr1d1	A	G	11: 98,662,134 (GRCm39)	Y167H	probably damaging	Het
Oca2	A	G	7: 56,064,210 (GRCm39)	D735G	probably damaging	Het
Odr4	G	A	1: 150,250,588 (GRCm39)	L319F	probably damaging	Het
Or2a7	T	C	6: 43,151,265 (GRCm39)	V115A	probably benign	Het
Or2b2	C	T	13: 21,887,393 (GRCm39)	T74I	probably benign	Het
Or2y13	A	G	11: 49,414,771 (GRCm39)	T74A	probably damaging	Het
Or7g20	T	A	9: 18,946,854 (GRCm39)	I145N	possibly damaging	Het
Otop1	A	G	5: 38,457,507 (GRCm39)	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,748,964 (GRCm39)	R126*	probably null	Het
Pdp2	C	T	8: 105,321,320 (GRCm39)	P390S	probably damaging	Het
Pds5b	A	T	5: 150,639,926 (GRCm39)	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,638,631 (GRCm39)	E580G	probably damaging	Het
Piezo2	A	T	18: 63,250,767 (GRCm39)	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,250,768 (GRCm39)	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,109,429 (GRCm39)	T207S	possibly damaging	Het
Plk2	C	A	13: 110,535,591 (GRCm39)	T471K	possibly damaging	Het
Potefam1	T	C	2: 111,041,910 (GRCm39)	T342A	probably benign	Het
Potegl	T	A	2: 23,102,730 (GRCm39)	L156Q	probably damaging	Het
Ppp1r3g	G	A	13: 36,153,245 (GRCm39)	E222K	probably damaging	Het
Pramel28	A	T	4: 143,691,708 (GRCm39)	D338E	possibly damaging	Het
Prkcg	A	G	7: 3,371,974 (GRCm39)	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,836,178 (GRCm39)	T81S	probably benign	Het
Rnf150	A	T	8: 83,730,228 (GRCm39)	K253*	probably null	Het
Sae1	T	C	7: 16,104,387 (GRCm39)		probably null	Het
Scin	C	T	12: 40,113,258 (GRCm39)	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,199,533 (GRCm39)	K329N	probably damaging	Het
Sgo2b	T	A	8: 64,380,008 (GRCm39)	K941N	possibly damaging	Het
Six1	C	T	12: 73,093,058 (GRCm39)	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,590,449 (GRCm39)	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,063,320 (GRCm39)	K35E	unknown	Het
Srek1	C	T	13: 103,895,752 (GRCm39)	A274T	probably damaging	Het
Steap2	A	T	5: 5,727,497 (GRCm39)	Y279*	probably null	Het
Svil	T	A	18: 5,046,823 (GRCm39)	L110*	probably null	Het
Syncrip	T	C	9: 88,338,762 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,443 (GRCm39)	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,155,451 (GRCm39)	K36*	probably null	Het
Tenm2	A	G	11: 36,032,510 (GRCm39)	V670A	probably damaging	Het
Thbd	G	A	2: 148,249,286 (GRCm39)	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,389,374 (GRCm39)		probably null	Het
Tmtc4	A	T	14: 123,187,911 (GRCm39)	I225N	probably damaging	Het
Tpp1	C	T	7: 105,396,743 (GRCm39)	V425M	probably damaging	Het
Trbc2	T	A	6: 41,524,746 (GRCm39)	Y144*	probably null	Het
Trps1	T	C	15: 50,709,504 (GRCm39)	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,745,404 (GRCm39)	S9R	probably damaging	Het
Upp1	T	A	11: 9,086,025 (GRCm39)	D287E	probably benign	Het
Uso1	A	C	5: 92,349,158 (GRCm39)	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902 (GRCm39)	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,416,950 (GRCm39)	R88G	probably damaging	Het
Vmn1r79	T	C	7: 11,910,928 (GRCm39)	V270A	possibly damaging	Het
Zbtb22	T	C	17: 34,136,709 (GRCm39)	S285P	probably benign	Het
Zfp385a	A	G	15: 103,226,492 (GRCm39)	V82A	probably damaging	Het
Zfp59	T	C	7: 27,553,594 (GRCm39)	F349L	probably benign	Het
Zfp780b	T	G	7: 27,662,224 (GRCm39)	H777P	probably benign	Het
Zfp82	T	C	7: 29,756,549 (GRCm39)	T178A	probably benign	Het
Zfp850	T	C	7: 27,688,513 (GRCm39)	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,450,207 (GRCm39)	Y531H	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
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'- CTCACAGAAATACTTCCTGGCCTC -3'
(R):5'- TCCCAGCATAAGTAAATGAAACTGC -3'

Sequencing Primer
(F):5'- AGAAATACTTCCTGGCCTCACTGG -3'
(R):5'- AGTTTCTGAGACAGGGCCTCATAC -3'

Posted On

2016-11-09