Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Ints9'

350913

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65187494-65277284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65269729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 473 (I473N)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

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

AlphaFold

Q8K114

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043914
AA Change: I473N

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: I473N

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

0.1187

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	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
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
R6821:Ints9	UTSW	14	65,274,907 (GRCm39)	missense	probably benign	0.20
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'- GGGCCATACTGTTTCCTTGC -3'
(R):5'- GGCAGCATCCTACAGAACTG -3'

Sequencing Primer
(F):5'- GCGCATCCTTTCCTGACAAGG -3'
(R):5'- GGCTTCTGTGAAGACAGGCATC -3'

Posted On

2015-10-08