Incidental Mutation 'R7870:Ctr9'
ID 608049
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 045922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 110628158-110655584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110651618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 946 (E946G)
Ref Sequence ENSEMBL: ENSMUSP00000005749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005749]
AlphaFold Q62018
Predicted Effect unknown
Transcript: ENSMUST00000005749
AA Change: E946G
SMART Domains Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: E946G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
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'- ACTTGTCAGAGACCCGCAAG -3'
(R):5'- TCAGGGACTAACCTAGAGACACATG -3'

Sequencing Primer
(F):5'- CAAGAGCGCTCTCCGGC -3'
(R):5'- AAATGCTCGAGATTCTGAAACAAGC -3'
Posted On 2019-12-20