Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02490:Ints2'

295607

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

86210681-86257575 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86233183 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 593 (I593K)

Ref Sequence

ENSEMBL: ENSMUSP00000103674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018212] [ENSMUST00000108039]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018212
AA Change: I593K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: I593K

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1131	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108039
AA Change: I593K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: I593K

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1132	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127745

Predicted Effect

probably benign
Transcript: ENSMUST00000134828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146421

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 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]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,101,577		noncoding transcript	Het
Adam5	A	T	8: 24,781,704	Y562*	probably null	Het
Akr1d1	T	C	6: 37,558,488	V269A	probably damaging	Het
Anks4b	A	G	7: 120,174,018	T34A	probably damaging	Het
Arhgef40	A	G	14: 51,989,195	N232S	probably damaging	Het
Cdc40	C	T	10: 40,841,771	V379I	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh13	A	G	8: 119,095,323	D307G	probably damaging	Het
Ces1h	A	G	8: 93,356,999		probably null	Het
Chchd6	T	A	6: 89,384,674	H249L	possibly damaging	Het
Cul1	T	C	6: 47,514,886	V392A	probably damaging	Het
Cwc15	A	T	9: 14,502,024	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,539,002	I264T	probably damaging	Het
Dapk1	A	G	13: 60,749,334	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,107,652	Y207N	probably damaging	Het
Efcab1	T	A	16: 14,916,946	V60E	probably benign	Het
Flt3	T	A	5: 147,331,296	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,529,472		probably benign	Het
Foxm1	T	A	6: 128,373,351	C400*	probably null	Het
Ftmt	A	C	18: 52,331,688	R25S	probably benign	Het
Guca1b	T	C	17: 47,389,265		probably benign	Het
Hectd4	A	T	5: 121,318,613	K680N	possibly damaging	Het
Hephl1	C	A	9: 15,053,685	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,356,812		probably benign	Het
Iqcg	T	A	16: 33,035,567	K213*	probably null	Het
Kif1b	T	A	4: 149,204,208	S1259C	probably benign	Het
Klc1	C	T	12: 111,781,776	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,604,830	T301A	probably benign	Het
Lrrc40	T	C	3: 158,062,699	L497P	probably damaging	Het
Masp2	C	T	4: 148,607,943	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,136,455	Y242F	probably damaging	Het
Nup98	A	G	7: 102,152,366	V784A	probably damaging	Het
Olfr1138	T	C	2: 87,737,955	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 12,882,284		probably benign	Het
Pcdh10	A	G	3: 45,380,487	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,700,852	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,719,760	N172D	probably damaging	Het
Plec	T	C	15: 76,189,263	Y517C	probably damaging	Het
Plod2	G	T	9: 92,586,842	A207S	probably benign	Het
Plxdc1	A	T	11: 97,954,778	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,531,658		probably null	Het
Procr	T	C	2: 155,753,432	L52P	probably damaging	Het
Psme2b	G	T	11: 48,946,119		probably benign	Het
Rgs22	G	A	15: 36,054,847	A727V	probably damaging	Het
Rock2	T	A	12: 16,948,563	W277R	probably damaging	Het
Rpl26	A	G	11: 68,904,390	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,652,167		probably null	Het
Sdr39u1	G	A	14: 55,898,341	P98L	probably damaging	Het
Sgms1	T	C	19: 32,160,143	K8E	probably damaging	Het
Stk31	T	C	6: 49,417,535	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,560,131	E79A	probably benign	Het
Ttll6	A	T	11: 96,156,720	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,810,364	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,540,984	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,894,935	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,703,968	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,442,700	Y288*	probably null	Het
Zfp993	T	C	4: 146,657,617	S133P	probably damaging	Het

Other mutations in Ints2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ints2	APN	11	86233135	missense	probably damaging	1.00
IGL02612:Ints2	APN	11	86215578	missense	probably damaging	1.00
IGL03396:Ints2	APN	11	86213062	missense	probably damaging	0.99
R0015:Ints2	UTSW	11	86249287	missense	probably damaging	1.00
R0015:Ints2	UTSW	11	86249287	missense	probably damaging	1.00
R0355:Ints2	UTSW	11	86234749	missense	probably benign	0.00
R0389:Ints2	UTSW	11	86248851	missense	probably damaging	1.00
R0631:Ints2	UTSW	11	86233196	missense	probably benign	0.02
R0944:Ints2	UTSW	11	86244463	missense	possibly damaging	0.85
R1268:Ints2	UTSW	11	86233085	missense	probably damaging	1.00
R1269:Ints2	UTSW	11	86233085	missense	probably damaging	1.00
R1270:Ints2	UTSW	11	86233085	missense	probably damaging	1.00
R1396:Ints2	UTSW	11	86249248	missense	probably damaging	0.98
R1474:Ints2	UTSW	11	86226781	missense	probably damaging	0.97
R1503:Ints2	UTSW	11	86226781	missense	probably damaging	0.97
R1840:Ints2	UTSW	11	86233085	missense	probably damaging	1.00
R1987:Ints2	UTSW	11	86217800	missense	probably benign	0.03
R1990:Ints2	UTSW	11	86248934	missense	possibly damaging	0.58
R1991:Ints2	UTSW	11	86248934	missense	possibly damaging	0.58
R3694:Ints2	UTSW	11	86243001	missense	probably benign	0.41
R4056:Ints2	UTSW	11	86242952	missense	probably damaging	1.00
R4057:Ints2	UTSW	11	86242952	missense	probably damaging	1.00
R4569:Ints2	UTSW	11	86256198	missense	probably damaging	1.00
R4585:Ints2	UTSW	11	86249275	missense	probably damaging	1.00
R4586:Ints2	UTSW	11	86249275	missense	probably damaging	1.00
R4806:Ints2	UTSW	11	86256209	missense	probably benign	0.10
R4929:Ints2	UTSW	11	86212653	missense	possibly damaging	0.56
R5031:Ints2	UTSW	11	86256200	missense	probably damaging	1.00
R5064:Ints2	UTSW	11	86249274	missense	probably damaging	1.00
R5270:Ints2	UTSW	11	86215795	missense	probably damaging	1.00
R5621:Ints2	UTSW	11	86242947	missense	probably benign	0.32
R5875:Ints2	UTSW	11	86238312	missense	probably benign	0.04
R5908:Ints2	UTSW	11	86215545	critical splice donor site	probably null
R5914:Ints2	UTSW	11	86222174	missense	probably benign	0.03
R5941:Ints2	UTSW	11	86250972	missense	probably benign	0.01
R5975:Ints2	UTSW	11	86226748	missense	possibly damaging	0.72
R6003:Ints2	UTSW	11	86238468	missense	probably damaging	1.00
R6091:Ints2	UTSW	11	86236603	missense	probably damaging	0.96
R6209:Ints2	UTSW	11	86225058	missense	probably damaging	1.00
R6567:Ints2	UTSW	11	86226661	missense	probably benign	0.42
R6764:Ints2	UTSW	11	86212779	missense	probably benign	0.00
R7033:Ints2	UTSW	11	86233085	missense	probably damaging	1.00
R7132:Ints2	UTSW	11	86217754	missense	probably benign	0.26
R7337:Ints2	UTSW	11	86217842	missense	probably benign	0.00
R7410:Ints2	UTSW	11	86233226	missense	probably benign	0.02
R7483:Ints2	UTSW	11	86215618	missense	probably damaging	1.00
R7503:Ints2	UTSW	11	86232055	missense	probably benign
R7804:Ints2	UTSW	11	86212663	missense	possibly damaging	0.92
R7845:Ints2	UTSW	11	86238263	missense	possibly damaging	0.93
R7875:Ints2	UTSW	11	86213062	missense	probably damaging	0.99
R7928:Ints2	UTSW	11	86238263	missense	possibly damaging	0.93
R7958:Ints2	UTSW	11	86213062	missense	probably damaging	0.99
R8058:Ints2	UTSW	11	86255353	missense	probably benign	0.05

Posted On

2015-04-16