Incidental Mutation 'R0332:Ints4'
ID 35919
Institutional Source Beutler Lab
Gene Symbol Ints4
Ensembl Gene ENSMUSG00000025133
Gene Name integrator complex subunit 4
Synonyms 2610034N24Rik
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R0332 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97130163-97190602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97166925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 577 (L577P)
Ref Sequence ENSEMBL: ENSMUSP00000026126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026126]
AlphaFold Q8CIM8
Predicted Effect probably damaging
Transcript: ENSMUST00000026126
AA Change: L577P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: L577P

DomainStartEndE-ValueType
Pfam:HEAT_2 153 258 9.8e-9 PFAM
Pfam:Cohesin_HEAT 179 219 7.7e-6 PFAM
low complexity region 518 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206644
Meta Mutation Damage Score 0.8655 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging Het
Other mutations in Ints4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Ints4 APN 7 97,184,412 (GRCm39) missense probably damaging 1.00
IGL01736:Ints4 APN 7 97,175,849 (GRCm39) missense probably benign 0.01
IGL01862:Ints4 APN 7 97,190,360 (GRCm39) missense probably damaging 1.00
IGL02277:Ints4 APN 7 97,136,665 (GRCm39) missense probably damaging 1.00
IGL02396:Ints4 APN 7 97,187,107 (GRCm39) missense possibly damaging 0.64
IGL02661:Ints4 APN 7 97,144,912 (GRCm39) missense probably benign
IGL02750:Ints4 APN 7 97,166,964 (GRCm39) critical splice donor site probably null
IGL03108:Ints4 APN 7 97,140,137 (GRCm39) critical splice acceptor site probably null
R0449:Ints4 UTSW 7 97,178,430 (GRCm39) missense probably damaging 0.97
R1065:Ints4 UTSW 7 97,157,099 (GRCm39) critical splice donor site probably null
R1722:Ints4 UTSW 7 97,162,786 (GRCm39) missense probably benign 0.24
R2060:Ints4 UTSW 7 97,150,970 (GRCm39) missense possibly damaging 0.93
R2211:Ints4 UTSW 7 97,158,957 (GRCm39) missense possibly damaging 0.63
R3731:Ints4 UTSW 7 97,155,308 (GRCm39) missense probably benign 0.18
R3881:Ints4 UTSW 7 97,165,464 (GRCm39) missense possibly damaging 0.94
R4089:Ints4 UTSW 7 97,178,462 (GRCm39) nonsense probably null
R4192:Ints4 UTSW 7 97,156,940 (GRCm39) missense probably damaging 1.00
R4479:Ints4 UTSW 7 97,134,178 (GRCm39) missense probably damaging 1.00
R4980:Ints4 UTSW 7 97,151,057 (GRCm39) critical splice donor site probably null
R5029:Ints4 UTSW 7 97,158,981 (GRCm39) missense probably benign 0.06
R5306:Ints4 UTSW 7 97,158,885 (GRCm39) missense probably damaging 1.00
R6160:Ints4 UTSW 7 97,158,790 (GRCm39) splice site probably null
R6317:Ints4 UTSW 7 97,178,425 (GRCm39) nonsense probably null
R6961:Ints4 UTSW 7 97,190,397 (GRCm39) makesense probably null
R7026:Ints4 UTSW 7 97,168,361 (GRCm39) missense possibly damaging 0.50
R7156:Ints4 UTSW 7 97,184,493 (GRCm39) critical splice donor site probably null
R7205:Ints4 UTSW 7 97,184,433 (GRCm39) nonsense probably null
R7234:Ints4 UTSW 7 97,179,507 (GRCm39) missense probably benign 0.00
R7418:Ints4 UTSW 7 97,140,179 (GRCm39) missense probably benign 0.03
R7423:Ints4 UTSW 7 97,156,926 (GRCm39) missense probably damaging 1.00
R7462:Ints4 UTSW 7 97,155,335 (GRCm39) missense probably benign 0.11
R7658:Ints4 UTSW 7 97,178,460 (GRCm39) missense possibly damaging 0.90
R7947:Ints4 UTSW 7 97,148,792 (GRCm39) missense probably benign
R8114:Ints4 UTSW 7 97,165,732 (GRCm39) splice site probably null
R8426:Ints4 UTSW 7 97,150,239 (GRCm39) nonsense probably null
R8765:Ints4 UTSW 7 97,151,016 (GRCm39) missense possibly damaging 0.70
R8777:Ints4 UTSW 7 97,134,227 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Ints4 UTSW 7 97,134,227 (GRCm39) missense probably damaging 1.00
R8944:Ints4 UTSW 7 97,183,593 (GRCm39) missense probably benign
R9001:Ints4 UTSW 7 97,190,276 (GRCm39) missense possibly damaging 0.51
R9057:Ints4 UTSW 7 97,158,987 (GRCm39) missense possibly damaging 0.90
R9315:Ints4 UTSW 7 97,156,840 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACAAGGAGACCATTGCATTCTCCCT -3'
(R):5'- TGACCACAGAAGCTGGAGCACA -3'

Sequencing Primer
(F):5'- tgttgagcctgacttcctg -3'
(R):5'- cagactgaggcaaaaagcac -3'
Posted On 2013-05-09