Incidental Mutation 'R0834:Ctr9'
ID 77728
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 039013-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110628158-110655584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110650159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 818 (S818T)
Ref Sequence ENSEMBL: ENSMUSP00000005749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005749]
AlphaFold Q62018
Predicted Effect probably benign
Transcript: ENSMUST00000005749
AA Change: S818T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: S818T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209912
Meta Mutation Damage Score 0.0673 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript Het
Other mutations in Ctr9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAAAGTGGTCCTGGCCTTCTCG -3'
(R):5'- AGCTCAGTGTAGACGCACCTGCTC -3'

Sequencing Primer
(F):5'- tgctctgaagctagactagaac -3'
(R):5'- AGACGCACCTGCTCTTTGAG -3'
Posted On 2013-10-16