Incidental Mutation 'IGL01414:Ints1'
ID 80183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01414
Quality Score
Status
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139744253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1503 (D1503G)
Ref Sequence ENSEMBL: ENSMUSP00000143789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000197187] [ENSMUST00000200393]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072607
AA Change: D1501G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: D1501G

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
Pfam:DUF3677 379 459 6.4e-37 PFAM
low complexity region 854 865 N/A INTRINSIC
low complexity region 870 876 N/A INTRINSIC
low complexity region 946 962 N/A INTRINSIC
low complexity region 965 988 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
low complexity region 1058 1069 N/A INTRINSIC
low complexity region 1347 1361 N/A INTRINSIC
low complexity region 1405 1418 N/A INTRINSIC
low complexity region 1615 1624 N/A INTRINSIC
low complexity region 1763 1776 N/A INTRINSIC
low complexity region 1840 1855 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198615
Predicted Effect probably benign
Transcript: ENSMUST00000200393
AA Change: D1503G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: D1503G

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
Pfam:DUF3677 379 459 6.4e-37 PFAM
low complexity region 854 865 N/A INTRINSIC
low complexity region 870 876 N/A INTRINSIC
low complexity region 946 962 N/A INTRINSIC
low complexity region 965 988 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
low complexity region 1058 1069 N/A INTRINSIC
low complexity region 1347 1361 N/A INTRINSIC
low complexity region 1405 1418 N/A INTRINSIC
low complexity region 1615 1624 N/A INTRINSIC
low complexity region 1763 1776 N/A INTRINSIC
low complexity region 1840 1855 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS1 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]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Gene trapped(9)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,279,696 (GRCm39) probably null Het
Arhgap45 T A 10: 79,862,938 (GRCm39) S705T probably damaging Het
B4galt4 A G 16: 38,578,153 (GRCm39) E200G probably damaging Het
Cdh12 A T 15: 21,492,775 (GRCm39) N265Y probably damaging Het
Cerk T A 15: 86,043,343 (GRCm39) T153S probably benign Het
Ect2 A T 3: 27,181,878 (GRCm39) probably benign Het
Ep300 T A 15: 81,511,467 (GRCm39) probably benign Het
Gm26920 T G 7: 29,767,503 (GRCm39) probably benign Het
Ighv1-66 T C 12: 115,556,929 (GRCm39) Y51C probably benign Het
Lhpp A G 7: 132,244,249 (GRCm39) K189E probably damaging Het
Myh13 A G 11: 67,233,298 (GRCm39) T606A probably benign Het
Naip1 T C 13: 100,545,681 (GRCm39) probably null Het
Nckap5 G T 1: 126,456,450 (GRCm39) Q38K probably damaging Het
Nlgn3 A G X: 100,345,866 (GRCm39) I93V probably benign Het
Nxpe2 A G 9: 48,231,923 (GRCm39) F345L probably benign Het
Pcdhb22 A G 18: 37,652,549 (GRCm39) N339S probably damaging Het
Rbbp7 T A X: 161,557,577 (GRCm39) I322N probably damaging Het
Rigi C A 4: 40,222,176 (GRCm39) V368F probably damaging Het
Rprd2 A T 3: 95,672,837 (GRCm39) F855L probably damaging Het
Scin A T 12: 40,174,698 (GRCm39) H128Q probably damaging Het
Sema4g A G 19: 44,986,435 (GRCm39) Y337C probably damaging Het
Stx6 C T 1: 155,077,691 (GRCm39) R233C possibly damaging Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Trem3 G T 17: 48,556,843 (GRCm39) V105L probably benign Het
Vmn2r108 T A 17: 20,691,942 (GRCm39) M194L probably benign Het
Zfyve16 A T 13: 92,658,704 (GRCm39) D402E probably benign Het
Other mutations in Ints1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ints1 APN 5 139,757,437 (GRCm39) missense probably damaging 0.99
IGL01329:Ints1 APN 5 139,753,258 (GRCm39) splice site probably benign
IGL01612:Ints1 APN 5 139,742,047 (GRCm39) missense probably benign 0.17
IGL01726:Ints1 APN 5 139,754,166 (GRCm39) splice site probably benign
IGL01958:Ints1 APN 5 139,745,843 (GRCm39) missense possibly damaging 0.94
IGL02122:Ints1 APN 5 139,750,905 (GRCm39) nonsense probably null
IGL02149:Ints1 APN 5 139,737,715 (GRCm39) missense probably damaging 1.00
IGL02349:Ints1 APN 5 139,754,223 (GRCm39) missense probably damaging 0.96
IGL02557:Ints1 APN 5 139,757,392 (GRCm39) missense probably damaging 1.00
IGL02814:Ints1 APN 5 139,758,146 (GRCm39) missense possibly damaging 0.80
IGL02815:Ints1 APN 5 139,741,037 (GRCm39) missense probably damaging 0.96
IGL02825:Ints1 APN 5 139,750,494 (GRCm39) missense probably benign 0.32
IGL03000:Ints1 APN 5 139,752,261 (GRCm39) missense probably benign 0.01
IGL03164:Ints1 APN 5 139,738,490 (GRCm39) missense probably damaging 0.99
forgiving UTSW 5 139,753,583 (GRCm39) missense probably damaging 0.99
restrained UTSW 5 139,753,481 (GRCm39) missense possibly damaging 0.68
A9681:Ints1 UTSW 5 139,755,894 (GRCm39) missense possibly damaging 0.56
R0113:Ints1 UTSW 5 139,750,968 (GRCm39) missense
R0193:Ints1 UTSW 5 139,737,485 (GRCm39) missense probably damaging 1.00
R0372:Ints1 UTSW 5 139,758,193 (GRCm39) missense probably damaging 1.00
R1129:Ints1 UTSW 5 139,744,226 (GRCm39) missense probably benign 0.00
R1290:Ints1 UTSW 5 139,757,165 (GRCm39) nonsense probably null
R1313:Ints1 UTSW 5 139,748,661 (GRCm39) missense probably benign
R1313:Ints1 UTSW 5 139,748,661 (GRCm39) missense probably benign
R1691:Ints1 UTSW 5 139,754,687 (GRCm39) missense probably damaging 1.00
R1708:Ints1 UTSW 5 139,748,594 (GRCm39) missense probably damaging 1.00
R1791:Ints1 UTSW 5 139,760,277 (GRCm39) missense probably benign 0.04
R2066:Ints1 UTSW 5 139,753,251 (GRCm39) missense probably benign 0.14
R2102:Ints1 UTSW 5 139,741,754 (GRCm39) missense possibly damaging 0.50
R2108:Ints1 UTSW 5 139,753,505 (GRCm39) missense probably damaging 1.00
R2238:Ints1 UTSW 5 139,750,955 (GRCm39) missense possibly damaging 0.95
R2426:Ints1 UTSW 5 139,757,569 (GRCm39) critical splice donor site probably null
R2913:Ints1 UTSW 5 139,743,668 (GRCm39) missense possibly damaging 0.91
R3896:Ints1 UTSW 5 139,743,399 (GRCm39) nonsense probably null
R4608:Ints1 UTSW 5 139,745,599 (GRCm39) missense probably benign 0.13
R4658:Ints1 UTSW 5 139,760,054 (GRCm39) missense possibly damaging 0.88
R4797:Ints1 UTSW 5 139,757,631 (GRCm39) missense possibly damaging 0.85
R4887:Ints1 UTSW 5 139,756,911 (GRCm39) missense possibly damaging 0.66
R4944:Ints1 UTSW 5 139,743,847 (GRCm39) splice site probably null
R4956:Ints1 UTSW 5 139,742,885 (GRCm39) missense probably damaging 1.00
R4976:Ints1 UTSW 5 139,738,566 (GRCm39) missense probably damaging 1.00
R5283:Ints1 UTSW 5 139,750,137 (GRCm39) missense probably damaging 1.00
R5354:Ints1 UTSW 5 139,752,183 (GRCm39) critical splice donor site probably null
R5496:Ints1 UTSW 5 139,740,953 (GRCm39) missense probably benign 0.07
R5517:Ints1 UTSW 5 139,738,542 (GRCm39) missense possibly damaging 0.86
R5696:Ints1 UTSW 5 139,740,744 (GRCm39) missense probably benign 0.00
R5766:Ints1 UTSW 5 139,757,900 (GRCm39) missense probably benign 0.33
R6359:Ints1 UTSW 5 139,741,972 (GRCm39) missense probably benign 0.09
R6753:Ints1 UTSW 5 139,750,930 (GRCm39) missense probably damaging 1.00
R6892:Ints1 UTSW 5 139,753,583 (GRCm39) missense probably damaging 0.99
R7009:Ints1 UTSW 5 139,754,217 (GRCm39) missense possibly damaging 0.83
R7047:Ints1 UTSW 5 139,744,226 (GRCm39) nonsense probably null
R7216:Ints1 UTSW 5 139,754,739 (GRCm39) missense possibly damaging 0.91
R7220:Ints1 UTSW 5 139,747,828 (GRCm39) missense possibly damaging 0.91
R7263:Ints1 UTSW 5 139,749,834 (GRCm39) missense possibly damaging 0.50
R7291:Ints1 UTSW 5 139,750,829 (GRCm39) missense probably damaging 1.00
R7319:Ints1 UTSW 5 139,746,520 (GRCm39) missense probably damaging 1.00
R7411:Ints1 UTSW 5 139,750,015 (GRCm39) missense possibly damaging 0.54
R7497:Ints1 UTSW 5 139,754,731 (GRCm39) missense probably damaging 0.99
R7529:Ints1 UTSW 5 139,753,481 (GRCm39) missense possibly damaging 0.68
R7710:Ints1 UTSW 5 139,756,840 (GRCm39) missense probably benign 0.17
R7816:Ints1 UTSW 5 139,757,134 (GRCm39) missense possibly damaging 0.90
R7819:Ints1 UTSW 5 139,746,522 (GRCm39) missense probably damaging 1.00
R7992:Ints1 UTSW 5 139,742,282 (GRCm39) missense probably damaging 1.00
R8260:Ints1 UTSW 5 139,750,968 (GRCm39) missense
R8265:Ints1 UTSW 5 139,757,919 (GRCm39) missense probably damaging 1.00
R8782:Ints1 UTSW 5 139,744,952 (GRCm39) missense probably benign 0.28
R9016:Ints1 UTSW 5 139,744,326 (GRCm39) missense probably benign
R9053:Ints1 UTSW 5 139,747,822 (GRCm39) missense possibly damaging 0.55
R9056:Ints1 UTSW 5 139,760,041 (GRCm39) critical splice donor site probably null
R9080:Ints1 UTSW 5 139,739,300 (GRCm39) missense probably benign 0.00
R9086:Ints1 UTSW 5 139,743,947 (GRCm39) missense probably benign
R9122:Ints1 UTSW 5 139,745,930 (GRCm39) missense possibly damaging 0.83
R9134:Ints1 UTSW 5 139,743,351 (GRCm39) missense probably benign
R9135:Ints1 UTSW 5 139,737,701 (GRCm39) missense possibly damaging 0.49
R9169:Ints1 UTSW 5 139,748,586 (GRCm39) missense probably benign
R9280:Ints1 UTSW 5 139,750,469 (GRCm39) missense probably damaging 1.00
R9458:Ints1 UTSW 5 139,743,407 (GRCm39) missense probably damaging 1.00
R9666:Ints1 UTSW 5 139,748,217 (GRCm39) missense probably benign 0.00
Z1177:Ints1 UTSW 5 139,757,393 (GRCm39) missense possibly damaging 0.64
Posted On 2013-11-05