Mutagenetix > Incidental Mutation

Incidental Mutation 'R1290:Ints1'

150754

Institutional Source

Beutler Lab

Gene Symbol

Ints1

Ensembl Gene

ENSMUSG00000029547

Gene Name

integrator complex subunit 1

Synonyms

1110015K06Rik

MMRRC Submission

039356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1290 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 139757165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 417 (L417*)

Ref Sequence

ENSEMBL: ENSMUSP00000143789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000196864] [ENSMUST00000200393]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000072607
AA Change: L415*

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: L415*

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: ENSMUST00000184414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196379

Predicted Effect

probably benign
Transcript: ENSMUST00000196864

SMART Domains

Protein: ENSMUSP00000142362
Gene: ENSMUSG00000029547

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200339

Predicted Effect

probably null
Transcript: ENSMUST00000200393
AA Change: L417*

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: L417*

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

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
Arfrp1	C	T	2: 181,006,397 (GRCm39)		probably null	Het
Borcs5	A	G	6: 134,621,331 (GRCm39)	D34G	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efl1	T	C	7: 82,320,936 (GRCm39)	V123A	probably damaging	Het
Exd2	T	A	12: 80,531,100 (GRCm39)	L99Q	probably benign	Het
Fnip2	T	C	3: 79,373,000 (GRCm39)	D1026G	probably damaging	Het
Gprin3	A	G	6: 59,331,449 (GRCm39)	F286S	possibly damaging	Het
Gramd1b	A	G	9: 40,228,117 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,805,021 (GRCm39)	V845E	probably damaging	Het
Kcnh3	G	A	15: 99,125,001 (GRCm39)		probably null	Het
Mbd1	T	C	18: 74,402,557 (GRCm39)	S20P	possibly damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Mmp16	A	T	4: 18,051,725 (GRCm39)	N238I	probably damaging	Het
Neurod2	A	T	11: 98,218,114 (GRCm39)	V350E	possibly damaging	Het
P3h2	C	T	16: 25,805,953 (GRCm39)	E297K	probably damaging	Het
Pcdhb1	A	G	18: 37,398,283 (GRCm39)	H78R	possibly damaging	Het
Slc22a14	A	C	9: 119,007,518 (GRCm39)	L297R	probably damaging	Het
Slc22a8	G	A	19: 8,587,275 (GRCm39)	G445D	probably damaging	Het
Spink5	A	G	18: 44,140,778 (GRCm39)	D659G	probably damaging	Het
St6gal1	A	G	16: 23,140,411 (GRCm39)	Q194R	probably benign	Het
Tas2r104	A	T	6: 131,661,808 (GRCm39)	C300*	probably null	Het
Ttc6	G	A	12: 57,707,199 (GRCm39)	S702N	probably benign	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Zfyve28	A	T	5: 34,356,145 (GRCm39)	D785E	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGTTCCCTGGACACCAAG -3'
(R):5'- TTGCCGAGGAGAAACTGAGTCCTG -3'

Sequencing Primer
(F):5'- CCTGGACACCAAGAGGCAAG -3'
(R):5'- ACAGCTTCAGTCTCAGAGGG -3'

Posted On

2014-01-29