Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Ints1'

280680

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 #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 139750905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 833 (Q833*)

Ref Sequence

ENSEMBL: ENSMUSP00000143789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000072607
AA Change: Q831*

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: Q831*

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

noncoding transcript
Transcript: ENSMUST00000197156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200339

Predicted Effect

probably null
Transcript: ENSMUST00000200393
AA Change: Q833*

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: Q833*

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Gspt1	T	C	16: 11,047,080 (GRCm39)	K445R	probably damaging	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Myom1	G	T	17: 71,399,132 (GRCm39)	R998L	probably damaging	Het
Nacc2	A	G	2: 25,979,960 (GRCm39)	S159P	probably benign	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,436,238 (GRCm39)	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Tspan32	A	T	7: 142,569,372 (GRCm39)	I144F	probably damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	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
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

2015-04-16