Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Ints11'

92280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints11

Ensembl Gene

ENSMUSG00000029034

Gene Name

integrator complex subunit 11

Synonyms

2410006F12Rik, Cpsf3l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

155869546-155889103 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 155885198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000097737] [ENSMUST00000120794] [ENSMUST00000156460]

AlphaFold

Q9CWS4

Predicted Effect

probably null
Transcript: ENSMUST00000030901

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	233	3.38e-17	SMART
Beta-Casp	245	363	6.94e-37	SMART
Pfam:RMMBL	376	418	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097737

SMART Domains

Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	16	124	2.5e-12	PFAM
Pfam:PseudoU_synth_1	168	285	1.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120794

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	211	6.42e-9	SMART
Beta-Casp	223	341	6.94e-37	SMART
Pfam:RMMBL	354	396	3.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135844

Predicted Effect

probably benign
Transcript: ENSMUST00000156460

SMART Domains

Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
SCOP:d1smla_	1	66	7e-7	SMART
PDB:2I7V\|A	3	38	1e-9	PDB
Blast:Lactamase_B	16	66	4e-30	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Ints11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Ints11	APN	4	155885126	missense	probably damaging	1.00
IGL01515:Ints11	APN	4	155875232	missense	probably damaging	1.00
IGL02024:Ints11	APN	4	155888515	missense	probably damaging	1.00
IGL02127:Ints11	APN	4	155886863	missense	probably damaging	1.00
IGL02850:Ints11	APN	4	155875304	missense	probably benign	0.03
IGL02926:Ints11	APN	4	155888111	critical splice donor site	probably null
IGL03296:Ints11	APN	4	155885323	critical splice donor site	probably null
IGL03357:Ints11	APN	4	155872124	splice site	probably benign
R0013:Ints11	UTSW	4	155887168	missense	probably damaging	1.00
R0013:Ints11	UTSW	4	155887168	missense	probably damaging	1.00
R0449:Ints11	UTSW	4	155887948	missense	probably benign	0.17
R0480:Ints11	UTSW	4	155887624	missense	probably damaging	1.00
R0589:Ints11	UTSW	4	155886886	missense	probably damaging	1.00
R0678:Ints11	UTSW	4	155887753	missense	probably damaging	1.00
R0865:Ints11	UTSW	4	155887107	splice site	probably null
R1135:Ints11	UTSW	4	155887927	splice site	probably null
R1466:Ints11	UTSW	4	155888110	critical splice donor site	probably null
R1466:Ints11	UTSW	4	155888110	critical splice donor site	probably null
R1658:Ints11	UTSW	4	155887728	missense	probably damaging	0.97
R1707:Ints11	UTSW	4	155875198	missense	probably benign	0.21
R2199:Ints11	UTSW	4	155875281	missense	probably benign	0.07
R2876:Ints11	UTSW	4	155887425	unclassified	probably benign
R4567:Ints11	UTSW	4	155885675	missense	probably damaging	1.00
R4900:Ints11	UTSW	4	155888430	missense	probably benign	0.01
R4964:Ints11	UTSW	4	155886928	missense	probably damaging	1.00
R4966:Ints11	UTSW	4	155886928	missense	probably damaging	1.00
R5306:Ints11	UTSW	4	155875208	missense	probably damaging	1.00
R5963:Ints11	UTSW	4	155872912	nonsense	probably null
R6246:Ints11	UTSW	4	155888089	missense	probably benign
R7285:Ints11	UTSW	4	155886111	missense	probably damaging	1.00
R7365:Ints11	UTSW	4	155872230	splice site	probably null
R7768:Ints11	UTSW	4	155886939	missense	probably damaging	0.97
R7774:Ints11	UTSW	4	155885683	missense	probably benign	0.00
R7999:Ints11	UTSW	4	155886956	missense	probably benign	0.12
R8103:Ints11	UTSW	4	155888230	missense	possibly damaging	0.93
R8785:Ints11	UTSW	4	155869708	missense	probably benign	0.17
R8825:Ints11	UTSW	4	155885130	nonsense	probably null
Z1088:Ints11	UTSW	4	155886970	missense	probably benign	0.41

Posted On

2013-12-09