Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Ints1'

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262420

Institutional Source

Beutler Lab

Gene Symbol

Ints1

Ensembl Gene

ENSMUSG00000029547

Gene Name

integrator complex subunit 1

Synonyms

1110015K06Rik

MMRRC Submission

039202-MU

Accession Numbers

Genbank: NM_026748; MGI: 1915760

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1129 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

139751282-139775674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139758471 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1510 (L1510S)

Ref Sequence

ENSEMBL: ENSMUSP00000072406 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072607
AA Change: L1510S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: L1510S

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: ENSMUST00000197727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198615

Predicted Effect

probably benign
Transcript: ENSMUST00000200393
AA Change: L1512S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: L1512S

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		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
IGL01958:Ints1	APN	5	139760088	missense	possibly damaging	0.94
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
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
Z1177:Ints1	UTSW	5	139771638	missense	possibly damaging	0.64

Predicted Primers

Posted On

2015-02-04