Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Ints11'

598752

Institutional Source

Beutler Lab

Gene Symbol

Ints11

Ensembl Gene

ENSMUSG00000029034

Gene Name

integrator complex subunit 11

Synonyms

Cpsf3l, 2410006F12Rik

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155954006-155973561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155970140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 228 (T228A)

Ref Sequence

ENSEMBL: ENSMUSP00000030901 (fasta)

Gene Model

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

AlphaFold

Q9CWS4

Predicted Effect

probably benign
Transcript: ENSMUST00000030901
AA Change: T228A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034
AA Change: T228A

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 benign
Transcript: ENSMUST00000120794
AA Change: T206A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034
AA Change: T206A

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

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

0.1206

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,494,414 (GRCm39)	T809N	probably benign	Het
Adgb	C	A	10: 10,215,404 (GRCm39)	E1561*	probably null	Het
Adgra1	A	T	7: 139,427,628 (GRCm39)	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,688,103 (GRCm39)	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,754,161 (GRCm39)	K177E	unknown	Het
Ccdc122	T	C	14: 77,305,379 (GRCm39)	V11A	probably benign	Het
Clasp2	T	A	9: 113,677,804 (GRCm39)		probably null	Het
Col6a1	T	C	10: 76,545,710 (GRCm39)	T921A	unknown	Het
Cul3	A	C	1: 80,247,011 (GRCm39)	D697E	probably benign	Het
Defa34	G	A	8: 22,155,978 (GRCm39)	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,700,641 (GRCm39)	R63G	probably damaging	Het
Dnaaf11	T	G	15: 66,321,401 (GRCm39)	I247L	probably benign	Het
Dnah3	T	A	7: 119,550,975 (GRCm39)	K136*	probably null	Het
Exoc7	T	C	11: 116,186,142 (GRCm39)	D353G	possibly damaging	Het
Fbxw21	T	C	9: 108,972,908 (GRCm39)	Y342C	probably benign	Het
Fitm2	T	A	2: 163,311,986 (GRCm39)	I76F	probably damaging	Het
Fryl	A	T	5: 73,240,727 (GRCm39)	I1291N	probably benign	Het
Fzd2	A	T	11: 102,496,314 (GRCm39)	I253F	possibly damaging	Het
Gm5592	A	T	7: 40,939,283 (GRCm39)	Y855F	probably damaging	Het
H1f6	A	G	13: 23,880,183 (GRCm39)	K112R	possibly damaging	Het
H4c16	G	T	6: 136,781,281 (GRCm39)	P33T	possibly damaging	Het
Helz2	T	C	2: 180,875,784 (GRCm39)	Y1570C	probably benign	Het
Ipo13	G	T	4: 117,771,494 (GRCm39)	N25K	probably benign	Het
Itga9	T	A	9: 118,700,968 (GRCm39)	I917N	probably damaging	Het
Krt39	T	C	11: 99,405,437 (GRCm39)		probably null	Het
Krtap13-1	C	T	16: 88,526,061 (GRCm39)	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,863 (GRCm39)	E107*	probably null	Het
Ly6a	A	T	15: 74,869,416 (GRCm39)	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,768,407 (GRCm39)	T275A	probably benign	Het
Mgat3	C	T	15: 80,095,743 (GRCm39)	T190M	probably damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mucl1	G	T	15: 103,783,950 (GRCm39)	N85K	possibly damaging	Het
Nifk	G	A	1: 118,255,391 (GRCm39)	E96K	possibly damaging	Het
Opn3	C	T	1: 175,490,471 (GRCm39)	V397M	probably damaging	Het
Or52ad1	T	C	7: 102,995,737 (GRCm39)	R133G	possibly damaging	Het
Or5ae1	T	A	7: 84,565,739 (GRCm39)	F251I	probably damaging	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Pcdha2	A	G	18: 37,074,579 (GRCm39)	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757 (GRCm39)	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,404,303 (GRCm39)	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,360,802 (GRCm39)	C195*	probably null	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pramel23	C	T	4: 143,423,676 (GRCm39)	S371N	possibly damaging	Het
Ptprq	T	C	10: 107,479,530 (GRCm39)	T1166A	probably damaging	Het
Ran	G	A	5: 129,099,874 (GRCm39)	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,318,309 (GRCm39)	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,430,101 (GRCm39)	E227D	probably benign	Het
Sec24b	C	A	3: 129,777,846 (GRCm39)	R1204L	possibly damaging	Het
Shroom3	T	C	5: 93,098,348 (GRCm39)	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,084,814 (GRCm39)	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,092,142 (GRCm39)	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,899,606 (GRCm39)	D658G	probably benign	Het
Tlr6	T	G	5: 65,110,728 (GRCm39)	E726D	probably damaging	Het
Tmem218	T	A	9: 37,133,864 (GRCm39)	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,098,795 (GRCm39)	Q82*	probably null	Het
Trpm7	A	G	2: 126,655,158 (GRCm39)	V1260A	probably benign	Het
Trpm8	A	T	1: 88,258,563 (GRCm39)	E282V	probably damaging	Het
Tuba8	T	C	6: 121,200,348 (GRCm39)	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,245,245 (GRCm39)		probably null	Het
Zfp174	G	A	16: 3,667,215 (GRCm39)	V135M	probably damaging	Het
Zfp418	G	A	7: 7,185,776 (GRCm39)	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,844,474 (GRCm39)	E44D	probably benign	Het
Zfp521	T	C	18: 13,978,838 (GRCm39)	D525G	probably benign	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
R5306:Ints11	UTSW	4	155,959,665 (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
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'- AGGTAGAGGAGCTTATGCCG -3'
(R):5'- GATCAGCTCTTCATCGGATGTAAG -3'

Sequencing Primer
(F):5'- CCGGGGGCTAATTCTGTAGTC -3'
(R):5'- GCTCTTCATCGGATGTAAGAATGAG -3'

Posted On

2019-11-26