Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Ints9'

537641

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65187494-65277284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65274907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 621 (E621G)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043914]

AlphaFold

Q8K114

Predicted Effect

probably benign
Transcript: ENSMUST00000043914
AA Change: E621G

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: E621G

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B_6	91	289	1.2e-17	PFAM
Beta-Casp	334	462	7.65e-16	SMART
low complexity region	583	596	N/A	INTRINSIC
low complexity region	672	682	N/A	INTRINSIC

Meta Mutation Damage Score

0.2402

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Ints9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ints9	APN	14	65,274,870 (GRCm39)	missense	probably benign	0.00
IGL02374:Ints9	APN	14	65,276,782 (GRCm39)	missense	probably benign	0.00
IGL02728:Ints9	APN	14	65,230,457 (GRCm39)	missense	probably damaging	1.00
IGL02992:Ints9	APN	14	65,217,613 (GRCm39)	missense	probably benign	0.08
IGL03151:Ints9	APN	14	65,269,789 (GRCm39)	missense	possibly damaging	0.86
R0437:Ints9	UTSW	14	65,223,818 (GRCm39)	splice site	probably benign
R0582:Ints9	UTSW	14	65,217,598 (GRCm39)	missense	probably damaging	1.00
R1525:Ints9	UTSW	14	65,232,460 (GRCm39)	missense	probably benign	0.05
R1569:Ints9	UTSW	14	65,217,571 (GRCm39)	missense	possibly damaging	0.91
R1835:Ints9	UTSW	14	65,269,705 (GRCm39)	missense	probably damaging	1.00
R1839:Ints9	UTSW	14	65,253,979 (GRCm39)	missense	probably damaging	1.00
R1862:Ints9	UTSW	14	65,263,862 (GRCm39)	missense	probably benign
R1892:Ints9	UTSW	14	65,257,872 (GRCm39)	missense	probably benign	0.08
R2146:Ints9	UTSW	14	65,223,792 (GRCm39)	missense	possibly damaging	0.71
R2285:Ints9	UTSW	14	65,245,446 (GRCm39)	missense	possibly damaging	0.61
R3015:Ints9	UTSW	14	65,187,727 (GRCm39)	missense	probably benign	0.00
R4133:Ints9	UTSW	14	65,228,003 (GRCm39)	missense	probably benign
R4180:Ints9	UTSW	14	65,230,430 (GRCm39)	missense	probably damaging	1.00
R4509:Ints9	UTSW	14	65,266,381 (GRCm39)	missense	possibly damaging	0.96
R4510:Ints9	UTSW	14	65,266,381 (GRCm39)	missense	possibly damaging	0.96
R4511:Ints9	UTSW	14	65,266,381 (GRCm39)	missense	possibly damaging	0.96
R4608:Ints9	UTSW	14	65,269,729 (GRCm39)	missense	possibly damaging	0.82
R5023:Ints9	UTSW	14	65,217,677 (GRCm39)	missense	probably damaging	1.00
R5117:Ints9	UTSW	14	65,230,540 (GRCm39)	nonsense	probably null
R5261:Ints9	UTSW	14	65,245,521 (GRCm39)	missense	probably benign	0.25
R5582:Ints9	UTSW	14	65,266,345 (GRCm39)	missense	possibly damaging	0.83
R5990:Ints9	UTSW	14	65,276,777 (GRCm39)	missense	probably damaging	1.00
R6009:Ints9	UTSW	14	65,245,531 (GRCm39)	missense	probably benign	0.43
R6241:Ints9	UTSW	14	65,217,659 (GRCm39)	missense	possibly damaging	0.90
R6351:Ints9	UTSW	14	65,230,456 (GRCm39)	missense	probably damaging	0.98
R7422:Ints9	UTSW	14	65,269,747 (GRCm39)	missense	possibly damaging	0.93
R7442:Ints9	UTSW	14	65,232,513 (GRCm39)	nonsense	probably null
R7475:Ints9	UTSW	14	65,263,914 (GRCm39)	missense	probably null	0.23
R8183:Ints9	UTSW	14	65,273,902 (GRCm39)	missense	probably damaging	0.98
R8223:Ints9	UTSW	14	65,257,809 (GRCm39)	missense	possibly damaging	0.94
R8282:Ints9	UTSW	14	65,244,757 (GRCm39)	missense	probably benign	0.00
R8314:Ints9	UTSW	14	65,266,479 (GRCm39)	missense	probably damaging	1.00
R8341:Ints9	UTSW	14	65,273,863 (GRCm39)	missense	probably benign	0.14
R8548:Ints9	UTSW	14	65,269,770 (GRCm39)	missense	probably benign	0.39
R9356:Ints9	UTSW	14	65,269,770 (GRCm39)	missense	probably benign	0.39
R9434:Ints9	UTSW	14	65,245,506 (GRCm39)	missense	probably benign	0.00
Z1176:Ints9	UTSW	14	65,274,903 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCATGAACTCAGGTGGCAG -3'
(R):5'- CTATTCCTGCTGCTCCAGAG -3'

Sequencing Primer
(F):5'- TTTTCACGTCAGGCCAGCAG -3'
(R):5'- CAGAGCTGGAGACTGAAGAC -3'

Posted On

2018-10-18