Mutagenetix > Incidental Mutation

Incidental Mutation 'R4511:Ints9'

470142

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

041586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64950045-65039832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65028932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 411 (D411G)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

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

AlphaFold

Q8K114

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043914
AA Change: D411G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: D411G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225790

Meta Mutation Damage Score

0.1004

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,277,328	S1530P	possibly damaging	Het
9330159F19Rik	T	A	10: 29,224,823	D397E	probably benign	Het
Abcc10	A	G	17: 46,307,210	F1005L	probably damaging	Het
Ackr4	T	C	9: 104,098,731	E339G	probably benign	Het
Adam39	G	T	8: 40,826,291	C573F	probably damaging	Het
Anks1b	A	G	10: 90,510,790	T651A	probably benign	Het
Aoc1	C	A	6: 48,907,806	H594Q	probably damaging	Het
Atp4a	G	T	7: 30,724,253	E928*	probably null	Het
Atp5j	T	C	16: 84,827,974	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629	T206A	probably damaging	Het
Atrn	G	A	2: 130,935,577	W182*	probably null	Het
BC017158	A	T	7: 128,276,140	F319Y	probably damaging	Het
Cacna1e	G	A	1: 154,561,833	T257I	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Crebrf	A	G	17: 26,742,964	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,574,491	R248W	probably damaging	Het
Dclk3	C	A	9: 111,467,992	H201Q	probably benign	Het
Ddx17	A	T	15: 79,538,592	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,825,516	*51W	probably null	Het
Fgfr4	C	A	13: 55,161,515	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,069,211	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,330,277	T28I	probably benign	Het
Gm12185	T	A	11: 48,908,478	H396L	possibly damaging	Het
Gm12794	A	T	4: 101,941,560	M243L	probably benign	Het
Gm21976	A	G	13: 98,305,331	R123G	probably benign	Het
Hecw1	A	C	13: 14,357,191	V166G	probably damaging	Het
Hpx	A	G	7: 105,592,088	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,302,978	Y61C	probably damaging	Het
Igsf1	A	G	X: 49,786,173	F789S	probably damaging	Het
Il4ra	A	G	7: 125,576,108	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,399,215	T547A	possibly damaging	Het
Insrr	C	A	3: 87,808,671	P558T	possibly damaging	Het
Irak3	T	A	10: 120,145,908	H393L	probably damaging	Het
Isx	G	A	8: 74,873,670	M10I	probably benign	Het
Itga11	A	G	9: 62,761,588	D709G	probably damaging	Het
Kcng2	G	T	18: 80,295,715	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011	V664A	probably benign	Het
Lalba	A	G	15: 98,482,541	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,209,518	F17V	probably benign	Het
Lnx1	C	T	5: 74,620,192	D382N	probably damaging	Het
Lrp1	T	C	10: 127,593,848	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,480,062	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,825,272	V431I	probably benign	Het
Mmrn2	T	C	14: 34,403,059	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,917,410	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,635,579	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526	T74R	probably damaging	Het
Notch2	T	C	3: 98,146,321	M2100T	probably benign	Het
Parp1	A	G	1: 180,591,276	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,766,662	T72A	probably damaging	Het
Polg	T	C	7: 79,455,522	Q758R	probably benign	Het
Polq	G	A	16: 37,048,563	R765H	probably damaging	Het
Prkd1	T	C	12: 50,392,979	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,491,826	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,026,748	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032	Q279L	possibly damaging	Het
Samd4	T	A	14: 47,077,585	V114D	probably benign	Het
Sec23ip	G	A	7: 128,779,176	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,527,403	T128S	probably benign	Het
Slc5a11	A	T	7: 123,235,635	I6F	probably benign	Het
Slc6a19	A	C	13: 73,683,975	L494R	probably damaging	Het
Slc6a21	A	G	7: 45,287,289	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,340,562	A381D	probably damaging	Het
Smc4	T	A	3: 69,016,647		probably null	Het
Stk19	T	C	17: 34,832,528	E17G	probably damaging	Het
Tekt5	A	C	16: 10,358,013	V556G	probably benign	Het
Tenm4	T	C	7: 96,894,863	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,212,425	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,065,019	D432G	probably damaging	Het
Tnip1	T	A	11: 54,926,790	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,742,958	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,988,017	I1625M	probably benign	Het
Ttn	A	T	2: 76,745,429	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,722,557	N19D	possibly damaging	Het
Washc2	A	T	6: 116,220,556	D250V	probably damaging	Het
Xpo1	A	G	11: 23,287,401	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,238,511	T154P	probably damaging	Het
Zzef1	A	G	11: 72,888,170	D1819G	probably benign	Het

Other mutations in Ints9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ints9	APN	14	65037421	missense	probably benign	0.00
IGL02374:Ints9	APN	14	65039333	missense	probably benign	0.00
IGL02728:Ints9	APN	14	64993008	missense	probably damaging	1.00
IGL02992:Ints9	APN	14	64980164	missense	probably benign	0.08
IGL03151:Ints9	APN	14	65032340	missense	possibly damaging	0.86
R0437:Ints9	UTSW	14	64986369	splice site	probably benign
R0582:Ints9	UTSW	14	64980149	missense	probably damaging	1.00
R1525:Ints9	UTSW	14	64995011	missense	probably benign	0.05
R1569:Ints9	UTSW	14	64980122	missense	possibly damaging	0.91
R1835:Ints9	UTSW	14	65032256	missense	probably damaging	1.00
R1839:Ints9	UTSW	14	65016530	missense	probably damaging	1.00
R1862:Ints9	UTSW	14	65026413	missense	probably benign
R1892:Ints9	UTSW	14	65020423	missense	probably benign	0.08
R2146:Ints9	UTSW	14	64986343	missense	possibly damaging	0.71
R2285:Ints9	UTSW	14	65007997	missense	possibly damaging	0.61
R3015:Ints9	UTSW	14	64950278	missense	probably benign	0.00
R4133:Ints9	UTSW	14	64990554	missense	probably benign
R4180:Ints9	UTSW	14	64992981	missense	probably damaging	1.00
R4509:Ints9	UTSW	14	65028932	missense	possibly damaging	0.96
R4510:Ints9	UTSW	14	65028932	missense	possibly damaging	0.96
R4608:Ints9	UTSW	14	65032280	missense	possibly damaging	0.82
R5023:Ints9	UTSW	14	64980228	missense	probably damaging	1.00
R5117:Ints9	UTSW	14	64993091	nonsense	probably null
R5261:Ints9	UTSW	14	65008072	missense	probably benign	0.25
R5582:Ints9	UTSW	14	65028896	missense	possibly damaging	0.83
R5990:Ints9	UTSW	14	65039328	missense	probably damaging	1.00
R6009:Ints9	UTSW	14	65008082	missense	probably benign	0.43
R6241:Ints9	UTSW	14	64980210	missense	possibly damaging	0.90
R6351:Ints9	UTSW	14	64993007	missense	probably damaging	0.98
R6821:Ints9	UTSW	14	65037458	missense	probably benign	0.20
R7422:Ints9	UTSW	14	65032298	missense	possibly damaging	0.93
R7442:Ints9	UTSW	14	64995064	nonsense	probably null
R7475:Ints9	UTSW	14	65026465	missense	probably null	0.23
R8183:Ints9	UTSW	14	65036453	missense	probably damaging	0.98
R8223:Ints9	UTSW	14	65020360	missense	possibly damaging	0.94
R8282:Ints9	UTSW	14	65007308	missense	probably benign	0.00
R8314:Ints9	UTSW	14	65029030	missense	probably damaging	1.00
R8341:Ints9	UTSW	14	65036414	missense	probably benign	0.14
R8548:Ints9	UTSW	14	65032321	missense	probably benign	0.39
R9356:Ints9	UTSW	14	65032321	missense	probably benign	0.39
R9434:Ints9	UTSW	14	65008057	missense	probably benign	0.00
Z1176:Ints9	UTSW	14	65037454	missense	probably benign	0.00

Predicted Primers

Posted On

2017-03-07