Incidental Mutation 'R0761:Ctr9'
ID 70090
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 038941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110628158-110655584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110645479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 569 (S569P)
Ref Sequence ENSEMBL: ENSMUSP00000005749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005749]
AlphaFold Q62018
Predicted Effect probably damaging
Transcript: ENSMUST00000005749
AA Change: S569P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: S569P

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
Meta Mutation Damage Score 0.5928 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably damaging 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
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
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'- GGCACCACATTGATCTTGCAGTTTG -3'
(R):5'- TCACCTATGCCATTGGCAGCATAC -3'

Sequencing Primer
(F):5'- GCAGTTTGCTAACAGGTCTC -3'
(R):5'- CATTGGCAGCATACAGGTTC -3'
Posted On 2013-09-30