Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Ints1'

181472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints1

Ensembl Gene

ENSMUSG00000029547

Gene Name

integrator complex subunit 1

Synonyms

1110015K06Rik

Accession Numbers

Genbank: NM_026748; MGI: 1915760

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

139751282-139775674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139760088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1342 (R1342Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072406 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072607
AA Change: R1342Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: R1342Q

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

noncoding transcript
Transcript: ENSMUST00000196319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197727

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200393
AA Change: R1344Q

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: R1344Q

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Ints1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Ints1	APN	5	139771682	missense	probably damaging	0.99
IGL01329:Ints1	APN	5	139767503	splice site	probably benign
IGL01414:Ints1	APN	5	139758498	missense	probably benign
IGL01612:Ints1	APN	5	139756292	missense	probably benign	0.17
IGL01726:Ints1	APN	5	139768411	splice site	probably benign
IGL02122:Ints1	APN	5	139765150	nonsense	probably null
IGL02149:Ints1	APN	5	139751960	missense	probably damaging	1.00
IGL02349:Ints1	APN	5	139768468	missense	probably damaging	0.96
IGL02557:Ints1	APN	5	139771637	missense	probably damaging	1.00
IGL02814:Ints1	APN	5	139772391	missense	possibly damaging	0.80
IGL02815:Ints1	APN	5	139755282	missense	probably damaging	0.96
IGL02825:Ints1	APN	5	139764739	missense	probably benign	0.32
IGL03000:Ints1	APN	5	139766506	missense	probably benign	0.01
IGL03164:Ints1	APN	5	139752735	missense	probably damaging	0.99
forgiving	UTSW	5	139767828	missense	probably damaging	0.99
restrained	UTSW	5	139767726	missense	possibly damaging	0.68
A9681:Ints1	UTSW	5	139770139	missense	possibly damaging	0.56
R0113:Ints1	UTSW	5	139765213	missense
R0193:Ints1	UTSW	5	139751730	missense	probably damaging	1.00
R0372:Ints1	UTSW	5	139772438	missense	probably damaging	1.00
R1129:Ints1	UTSW	5	139758471	missense	probably benign	0.00
R1290:Ints1	UTSW	5	139771410	nonsense	probably null
R1313:Ints1	UTSW	5	139762906	missense	probably benign
R1313:Ints1	UTSW	5	139762906	missense	probably benign
R1691:Ints1	UTSW	5	139768932	missense	probably damaging	1.00
R1708:Ints1	UTSW	5	139762839	missense	probably damaging	1.00
R1791:Ints1	UTSW	5	139774522	missense	probably benign	0.04
R2066:Ints1	UTSW	5	139767496	missense	probably benign	0.14
R2102:Ints1	UTSW	5	139755999	missense	possibly damaging	0.50
R2108:Ints1	UTSW	5	139767750	missense	probably damaging	1.00
R2238:Ints1	UTSW	5	139765200	missense	possibly damaging	0.95
R2426:Ints1	UTSW	5	139771814	critical splice donor site	probably null
R2913:Ints1	UTSW	5	139757913	missense	possibly damaging	0.91
R3896:Ints1	UTSW	5	139757644	nonsense	probably null
R4608:Ints1	UTSW	5	139759844	missense	probably benign	0.13
R4658:Ints1	UTSW	5	139774299	missense	possibly damaging	0.88
R4797:Ints1	UTSW	5	139771876	missense	possibly damaging	0.85
R4887:Ints1	UTSW	5	139771156	missense	possibly damaging	0.66
R4944:Ints1	UTSW	5	139758092	splice site	probably null
R4956:Ints1	UTSW	5	139757130	missense	probably damaging	1.00
R4976:Ints1	UTSW	5	139752811	missense	probably damaging	1.00
R5283:Ints1	UTSW	5	139764382	missense	probably damaging	1.00
R5354:Ints1	UTSW	5	139766428	critical splice donor site	probably null
R5496:Ints1	UTSW	5	139755198	missense	probably benign	0.07
R5517:Ints1	UTSW	5	139752787	missense	possibly damaging	0.86
R5696:Ints1	UTSW	5	139754989	missense	probably benign	0.00
R5766:Ints1	UTSW	5	139772145	missense	probably benign	0.33
R6359:Ints1	UTSW	5	139756217	missense	probably benign	0.09
R6753:Ints1	UTSW	5	139765175	missense	probably damaging	1.00
R6892:Ints1	UTSW	5	139767828	missense	probably damaging	0.99
R7009:Ints1	UTSW	5	139768462	missense	possibly damaging	0.83
R7047:Ints1	UTSW	5	139758471	nonsense	probably null
R7216:Ints1	UTSW	5	139768984	missense	possibly damaging	0.91
R7220:Ints1	UTSW	5	139762073	missense	possibly damaging	0.91
R7263:Ints1	UTSW	5	139764079	missense	possibly damaging	0.50
R7291:Ints1	UTSW	5	139765074	missense	probably damaging	1.00
R7319:Ints1	UTSW	5	139760765	missense	probably damaging	1.00
R7411:Ints1	UTSW	5	139764260	missense	possibly damaging	0.54
R7497:Ints1	UTSW	5	139768976	missense	probably damaging	0.99
R7529:Ints1	UTSW	5	139767726	missense	possibly damaging	0.68
R7710:Ints1	UTSW	5	139771085	missense	probably benign	0.17
R7816:Ints1	UTSW	5	139771379	missense	possibly damaging	0.90
R7819:Ints1	UTSW	5	139760767	missense	probably damaging	1.00
R7992:Ints1	UTSW	5	139756527	missense	probably damaging	1.00
R8260:Ints1	UTSW	5	139765213	missense
R8265:Ints1	UTSW	5	139772164	missense	probably damaging	1.00
R8782:Ints1	UTSW	5	139759197	missense	probably benign	0.28
R9016:Ints1	UTSW	5	139758571	missense	probably benign
R9053:Ints1	UTSW	5	139762067	missense	possibly damaging	0.55
R9056:Ints1	UTSW	5	139774286	critical splice donor site	probably null
R9080:Ints1	UTSW	5	139753545	missense	probably benign	0.00
R9086:Ints1	UTSW	5	139758192	missense	probably benign
R9122:Ints1	UTSW	5	139760175	missense	possibly damaging	0.83
R9134:Ints1	UTSW	5	139757596	missense	probably benign
R9135:Ints1	UTSW	5	139751946	missense	possibly damaging	0.49
R9169:Ints1	UTSW	5	139762831	missense	probably benign
R9280:Ints1	UTSW	5	139764714	missense	probably damaging	1.00
R9458:Ints1	UTSW	5	139757652	missense	probably damaging	1.00
R9666:Ints1	UTSW	5	139762462	missense	probably benign	0.00
Z1177:Ints1	UTSW	5	139771638	missense	possibly damaging	0.64

Posted On

2014-05-07