Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03164:Ints1'

411571

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 #

IGL03164

Quality Score

Status

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139738490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2084 (L2084P)

Ref Sequence

ENSEMBL: ENSMUSP00000072406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000197187] [ENSMUST00000200393]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072607
AA Change: L2084P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: L2084P

Domain	Start	End	E-Value	Type
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: ENSMUST00000198615

Predicted Effect

probably damaging
Transcript: ENSMUST00000200393
AA Change: L2086P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: L2086P

Domain	Start	End	E-Value	Type
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,070 (GRCm39)	D256G	probably damaging	Het
Abcb11	A	T	2: 69,122,343 (GRCm39)	L380*	probably null	Het
Aco1	A	T	4: 40,167,116 (GRCm39)	N110I	probably benign	Het
Adamts9	T	C	6: 92,866,918 (GRCm39)	D126G	probably damaging	Het
Anks1b	T	G	10: 89,878,554 (GRCm39)	V121G	probably damaging	Het
Ap1s3	A	G	1: 79,602,887 (GRCm39)	L40P	probably damaging	Het
Cd19	C	A	7: 126,012,681 (GRCm39)	M237I	possibly damaging	Het
Chil6	T	C	3: 106,301,714 (GRCm39)	T129A	probably benign	Het
Chtf18	A	G	17: 25,945,816 (GRCm39)	M94T	probably benign	Het
Clstn2	G	T	9: 97,681,462 (GRCm39)	D59E	possibly damaging	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Ctnnbl1	A	C	2: 157,659,681 (GRCm39)	M253L	probably benign	Het
Erg	T	C	16: 95,210,730 (GRCm39)	T41A	possibly damaging	Het
Gjd3	T	A	11: 102,691,547 (GRCm39)	N152I	possibly damaging	Het
Isoc1	C	T	18: 58,806,404 (GRCm39)	S238L	probably damaging	Het
Kdm5a	T	A	6: 120,415,980 (GRCm39)	D1633E	probably damaging	Het
Krt76	T	C	15: 101,795,886 (GRCm39)	D428G	possibly damaging	Het
Lrp2	G	T	2: 69,295,043 (GRCm39)	T3425K	probably damaging	Het
Lta4h	T	C	10: 93,306,659 (GRCm39)		probably benign	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nlrp5	T	A	7: 23,117,798 (GRCm39)	Y507*	probably null	Het
Nps	T	C	7: 134,874,039 (GRCm39)	S53P	probably damaging	Het
Oprk1	A	T	1: 5,669,087 (GRCm39)	I178F	probably damaging	Het
Or2a12	C	T	6: 42,905,064 (GRCm39)	R300*	probably null	Het
Or5p1	T	C	7: 107,916,901 (GRCm39)	S267P	probably damaging	Het
Osgin2	G	T	4: 16,001,938 (GRCm39)	S204R	probably benign	Het
Otop1	G	T	5: 38,445,306 (GRCm39)	G155*	probably null	Het
Peli3	A	G	19: 4,986,144 (GRCm39)		probably null	Het
Pex7	T	A	10: 19,770,461 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,029,843 (GRCm39)	L749P	probably damaging	Het
Pwp1	T	A	10: 85,714,367 (GRCm39)	F103Y	probably benign	Het
Rhod	T	C	19: 4,482,829 (GRCm39)	K63E	possibly damaging	Het
Rtl1	T	C	12: 109,559,367 (GRCm39)	E824G	probably damaging	Het
Sema4d	A	G	13: 51,862,958 (GRCm39)	F467L	possibly damaging	Het
Septin10	T	C	10: 59,016,921 (GRCm39)	E201G	probably damaging	Het
Slc37a3	G	A	6: 39,322,237 (GRCm39)	T389I	probably benign	Het
Slco2b1	C	T	7: 99,334,743 (GRCm39)	A243T	probably damaging	Het
Sorbs2	A	G	8: 46,235,911 (GRCm39)	T187A	probably benign	Het
Supt20	T	A	3: 54,620,609 (GRCm39)	D389E	probably benign	Het
Tchh	A	G	3: 93,352,699 (GRCm39)	D713G	unknown	Het
Trappc10	T	C	10: 78,056,076 (GRCm39)	R209G	probably damaging	Het
Unc119	A	G	11: 78,239,002 (GRCm39)	D176G	probably damaging	Het
Usb1	G	A	8: 96,060,112 (GRCm39)	R21Q	probably damaging	Het

Other mutations in Ints1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01414:Ints1	APN	5	139,744,253 (GRCm39)	missense	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
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

2016-08-02