Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01329:Ints1'

74446

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 #

IGL01329

Quality Score

Status

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 139753258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072607

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547

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: ENSMUST00000200339

Predicted Effect

probably benign
Transcript: ENSMUST00000200393

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,944,166 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,784,194 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,860,733 (GRCm39)	Y195C	probably damaging	Het
Cand2	T	C	6: 115,759,755 (GRCm39)	I142T	probably benign	Het
Cdh15	T	C	8: 123,592,062 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,479,534 (GRCm39)	G217D	probably damaging	Het
Cfap54	T	A	10: 92,917,385 (GRCm39)	H25L	unknown	Het
Cfap95	A	G	19: 23,630,100 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,778,889 (GRCm39)	V266A	probably benign	Het
D3Ertd751e	A	G	3: 41,703,132 (GRCm39)	D69G	probably benign	Het
Dnah3	T	C	7: 119,622,164 (GRCm39)	I1518V	probably damaging	Het
Entpd8	A	G	2: 24,974,358 (GRCm39)	K381R	probably benign	Het
Fli1	T	A	9: 32,335,397 (GRCm39)	K345I	probably damaging	Het
G6pd2	T	C	5: 61,967,281 (GRCm39)	V352A	probably damaging	Het
Gbp11	C	T	5: 105,475,482 (GRCm39)		probably null	Het
Gm11992	A	G	11: 9,018,383 (GRCm39)	*292W	probably null	Het
Ifnar2	T	A	16: 91,188,599 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,111 (GRCm39)	K661R	probably benign	Het
Inf2	G	T	12: 112,578,290 (GRCm39)	E651*	probably null	Het
Iqcf4	T	C	9: 106,447,832 (GRCm39)	K26E	probably benign	Het
Map4k3	A	G	17: 80,951,613 (GRCm39)	V289A	probably benign	Het
Mis18bp1	T	C	12: 65,205,215 (GRCm39)	K319R	possibly damaging	Het
Nubpl	T	C	12: 52,352,638 (GRCm39)	V291A	probably damaging	Het
Or4f56	A	G	2: 111,703,295 (GRCm39)	F302L	probably benign	Het
Or4k15c	C	T	14: 50,321,454 (GRCm39)	R228H	probably benign	Het
Or8b57	A	G	9: 40,003,324 (GRCm39)	S313P	possibly damaging	Het
Or8k38	T	C	2: 86,488,551 (GRCm39)	N84D	probably benign	Het
Otof	A	G	5: 30,598,723 (GRCm39)	S29P	probably benign	Het
Pcca	A	G	14: 122,927,545 (GRCm39)	D436G	possibly damaging	Het
Rasef	T	A	4: 73,645,882 (GRCm39)	T496S	probably damaging	Het
Saa2	A	G	7: 46,402,896 (GRCm39)	D49G	probably benign	Het
Scart1	T	A	7: 139,804,552 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,547,852 (GRCm39)	I1015V	probably benign	Het
Sim2	T	C	16: 93,907,119 (GRCm39)	Y154H	possibly damaging	Het
Spag17	A	G	3: 100,002,865 (GRCm39)	H1863R	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Svil	A	G	18: 5,064,501 (GRCm39)	E1111G	probably benign	Het
Trabd2b	T	C	4: 114,266,322 (GRCm39)	V112A	probably damaging	Het
Vmn1r205	T	C	13: 22,776,273 (GRCm39)	I276M	probably benign	Het
Vps13d	A	T	4: 144,882,776 (GRCm39)	I939N	possibly damaging	Het
Zc3h11a	T	C	1: 133,553,600 (GRCm39)	M515V	probably benign	Het
Zfp457	T	C	13: 67,442,330 (GRCm39)	T82A	possibly 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
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
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

2013-10-07