Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Ints11'

404551

Institutional Source

Beutler Lab

Gene Symbol

Ints11

Ensembl Gene

ENSMUSG00000029034

Gene Name

integrator complex subunit 11

Synonyms

Cpsf3l, 2410006F12Rik

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155954006-155973561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155959665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 91 (Y91H)

Ref Sequence

ENSEMBL: ENSMUSP00000112656 (fasta)

Gene Model

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

AlphaFold

Q9CWS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030901
AA Change: Y91H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034
AA Change: Y91H

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 damaging
Transcript: ENSMUST00000120794
AA Change: Y91H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034
AA Change: Y91H

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: ENSMUST00000134678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149458

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

Meta Mutation Damage Score

0.8724

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Asb14	G	A	14: 26,633,866 (GRCm39)	C357Y	probably damaging	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,215 (GRCm39)	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints4	A	C	7: 97,158,885 (GRCm39)	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Or6c70	A	C	10: 129,709,810 (GRCm39)	I272R	probably damaging	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,953,754 (GRCm39)	D379G	probably benign	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	probably damaging	Het

Other mutations in Ints11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Ints11	APN	4	155,969,583 (GRCm39)	missense	probably damaging	1.00
IGL01515:Ints11	APN	4	155,959,689 (GRCm39)	missense	probably damaging	1.00
IGL01613:Ints11	APN	4	155,969,655 (GRCm39)	critical splice donor site	probably null
IGL02024:Ints11	APN	4	155,972,972 (GRCm39)	missense	probably damaging	1.00
IGL02127:Ints11	APN	4	155,971,320 (GRCm39)	missense	probably damaging	1.00
IGL02850:Ints11	APN	4	155,959,761 (GRCm39)	missense	probably benign	0.03
IGL02926:Ints11	APN	4	155,972,568 (GRCm39)	critical splice donor site	probably null
IGL03296:Ints11	APN	4	155,969,780 (GRCm39)	critical splice donor site	probably null
IGL03357:Ints11	APN	4	155,956,581 (GRCm39)	splice site	probably benign
R0013:Ints11	UTSW	4	155,971,625 (GRCm39)	missense	probably damaging	1.00
R0013:Ints11	UTSW	4	155,971,625 (GRCm39)	missense	probably damaging	1.00
R0449:Ints11	UTSW	4	155,972,405 (GRCm39)	missense	probably benign	0.17
R0480:Ints11	UTSW	4	155,972,081 (GRCm39)	missense	probably damaging	1.00
R0589:Ints11	UTSW	4	155,971,343 (GRCm39)	missense	probably damaging	1.00
R0678:Ints11	UTSW	4	155,972,210 (GRCm39)	missense	probably damaging	1.00
R0865:Ints11	UTSW	4	155,971,564 (GRCm39)	splice site	probably null
R1135:Ints11	UTSW	4	155,972,384 (GRCm39)	splice site	probably null
R1466:Ints11	UTSW	4	155,972,567 (GRCm39)	critical splice donor site	probably null
R1466:Ints11	UTSW	4	155,972,567 (GRCm39)	critical splice donor site	probably null
R1658:Ints11	UTSW	4	155,972,185 (GRCm39)	missense	probably damaging	0.97
R1707:Ints11	UTSW	4	155,959,655 (GRCm39)	missense	probably benign	0.21
R2199:Ints11	UTSW	4	155,959,738 (GRCm39)	missense	probably benign	0.07
R2876:Ints11	UTSW	4	155,971,882 (GRCm39)	unclassified	probably benign
R4567:Ints11	UTSW	4	155,970,132 (GRCm39)	missense	probably damaging	1.00
R4900:Ints11	UTSW	4	155,972,887 (GRCm39)	missense	probably benign	0.01
R4964:Ints11	UTSW	4	155,971,385 (GRCm39)	missense	probably damaging	1.00
R4966:Ints11	UTSW	4	155,971,385 (GRCm39)	missense	probably damaging	1.00
R5963:Ints11	UTSW	4	155,957,369 (GRCm39)	nonsense	probably null
R6246:Ints11	UTSW	4	155,972,546 (GRCm39)	missense	probably benign
R7285:Ints11	UTSW	4	155,970,568 (GRCm39)	missense	probably damaging	1.00
R7365:Ints11	UTSW	4	155,956,687 (GRCm39)	splice site	probably null
R7768:Ints11	UTSW	4	155,971,396 (GRCm39)	missense	probably damaging	0.97
R7774:Ints11	UTSW	4	155,970,140 (GRCm39)	missense	probably benign	0.00
R7999:Ints11	UTSW	4	155,971,413 (GRCm39)	missense	probably benign	0.12
R8103:Ints11	UTSW	4	155,972,687 (GRCm39)	missense	possibly damaging	0.93
R8785:Ints11	UTSW	4	155,954,165 (GRCm39)	missense	probably benign	0.17
R8825:Ints11	UTSW	4	155,969,587 (GRCm39)	nonsense	probably null
Z1088:Ints11	UTSW	4	155,971,427 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GCATATTGTTGGGCATCTAGGC -3'
(R):5'- GATCCTGACCTGAACTGTCTG -3'

Sequencing Primer
(F):5'- TGTACTACCTATGACAGTGACCC -3'
(R):5'- ACCTGAACTGTCTGATGCAG -3'

Posted On

2016-07-22