Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Ints8'

669343

Institutional Source

Beutler Lab

Gene Symbol

Ints8

Ensembl Gene

ENSMUSG00000040738

Gene Name

integrator complex subunit 8

Synonyms

2810013E07Rik, D130008D20Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001159595.1, NM_178112.5; MGI:1919906

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11199158-11254258 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 11208824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029866] [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319] [ENSMUST00000108324] [ENSMUST00000170901]

AlphaFold

Q80V86

Predicted Effect

probably benign
Transcript: ENSMUST00000029866

SMART Domains

Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212

Domain	Start	End	E-Value	Type
CYCLIN	146	231	2.16e-24	SMART
Cyclin_C	240	362	5.49e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000044616

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108318

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
SCOP:d1a17__	826	961	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108319

SMART Domains

Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108324

SMART Domains

Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212

Domain	Start	End	E-Value	Type
CYCLIN	147	232	2.16e-24	SMART
Cyclin_C	241	363	5.49e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170901

SMART Domains

Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212

Domain	Start	End	E-Value	Type
CYCLIN	147	232	2.16e-24	SMART
Cyclin_C	241	363	5.49e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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 which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

All alleles(14) : Targeted(1) Gene trapped(13)

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Ints8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Ints8	APN	4	11218679	splice site	probably benign
IGL01925:Ints8	APN	4	11235617	splice site	probably benign
IGL02195:Ints8	APN	4	11221222	missense	probably damaging	1.00
IGL02215:Ints8	APN	4	11209244	missense	probably damaging	1.00
IGL02429:Ints8	APN	4	11231720	missense	probably damaging	1.00
IGL02484:Ints8	APN	4	11208834	nonsense	probably null
IGL02558:Ints8	APN	4	11218771	missense	probably damaging	1.00
IGL02725:Ints8	APN	4	11239406	missense	probably benign	0.01
IGL02742:Ints8	APN	4	11241627	missense	possibly damaging	0.75
IGL02831:Ints8	APN	4	11245896	missense	possibly damaging	0.51
IGL03140:Ints8	APN	4	11235565	missense	probably damaging	1.00
IGL03171:Ints8	APN	4	11231702	missense	probably benign	0.01
IGL03335:Ints8	APN	4	11216460	missense	probably damaging	1.00
G1Funyon:Ints8	UTSW	4	11246120	missense	probably damaging	1.00
P0026:Ints8	UTSW	4	11225788	nonsense	probably null
R0054:Ints8	UTSW	4	11204595	utr 3 prime	probably benign
R0063:Ints8	UTSW	4	11252857	missense	probably damaging	1.00
R0063:Ints8	UTSW	4	11252857	missense	probably damaging	1.00
R0184:Ints8	UTSW	4	11218637	missense	probably benign	0.03
R0299:Ints8	UTSW	4	11246097	missense	probably benign	0.04
R0499:Ints8	UTSW	4	11246097	missense	probably benign	0.04
R0540:Ints8	UTSW	4	11252926	missense	possibly damaging	0.94
R0657:Ints8	UTSW	4	11246097	missense	probably benign	0.04
R1232:Ints8	UTSW	4	11234587	missense	possibly damaging	0.81
R1296:Ints8	UTSW	4	11221204	missense	possibly damaging	0.95
R1390:Ints8	UTSW	4	11239461	missense	probably benign	0.22
R1503:Ints8	UTSW	4	11245842	missense	probably damaging	0.97
R1587:Ints8	UTSW	4	11245722	critical splice donor site	probably null
R1701:Ints8	UTSW	4	11231656	missense	probably damaging	1.00
R1721:Ints8	UTSW	4	11241684	missense	probably damaging	0.97
R1757:Ints8	UTSW	4	11254109	start codon destroyed	probably null	0.99
R1777:Ints8	UTSW	4	11225600	critical splice donor site	probably null
R1867:Ints8	UTSW	4	11241684	missense	probably damaging	0.97
R1868:Ints8	UTSW	4	11241684	missense	probably damaging	0.97
R1952:Ints8	UTSW	4	11221150	missense	probably benign	0.21
R2084:Ints8	UTSW	4	11230377	missense	probably benign	0.31
R2108:Ints8	UTSW	4	11235552	missense	probably damaging	0.99
R2202:Ints8	UTSW	4	11225712	missense	possibly damaging	0.79
R2203:Ints8	UTSW	4	11225712	missense	possibly damaging	0.79
R2205:Ints8	UTSW	4	11225712	missense	possibly damaging	0.79
R2439:Ints8	UTSW	4	11225725	missense	probably benign	0.29
R2504:Ints8	UTSW	4	11241642	missense	probably benign	0.03
R3824:Ints8	UTSW	4	11225621	nonsense	probably null
R4664:Ints8	UTSW	4	11227152	missense	probably benign	0.04
R4703:Ints8	UTSW	4	11223785	missense	possibly damaging	0.92
R4895:Ints8	UTSW	4	11230367	nonsense	probably null
R5206:Ints8	UTSW	4	11216477	missense	possibly damaging	0.65
R5262:Ints8	UTSW	4	11211916	missense	probably damaging	1.00
R5505:Ints8	UTSW	4	11221143	missense	probably benign	0.18
R5513:Ints8	UTSW	4	11248303	missense	possibly damaging	0.79
R5750:Ints8	UTSW	4	11241654	missense	possibly damaging	0.81
R5892:Ints8	UTSW	4	11223813	missense	probably damaging	1.00
R6007:Ints8	UTSW	4	11208845	missense	possibly damaging	0.70
R6229:Ints8	UTSW	4	11252891	missense	probably damaging	1.00
R6466:Ints8	UTSW	4	11252878	missense	probably damaging	0.99
R6709:Ints8	UTSW	4	11221117	missense	possibly damaging	0.65
R6986:Ints8	UTSW	4	11204474	missense	probably damaging	1.00
R6998:Ints8	UTSW	4	11204537	missense	possibly damaging	0.80
R7074:Ints8	UTSW	4	11204574	missense	possibly damaging	0.82
R7221:Ints8	UTSW	4	11225613	missense	probably benign	0.01
R7772:Ints8	UTSW	4	11227190	missense	probably damaging	0.97
R7872:Ints8	UTSW	4	11254062	missense	probably benign	0.00
R7953:Ints8	UTSW	4	11227128	missense	probably benign
R8184:Ints8	UTSW	4	11204534	missense	probably damaging	1.00
R8301:Ints8	UTSW	4	11246120	missense	probably damaging	1.00
R8868:Ints8	UTSW	4	11230488	missense	probably benign
R9245:Ints8	UTSW	4	11213811	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCTCTAAGGATCCTGTGAGATG -3'
(R):5'- TCCTGCCATATGGGTCTTGG -3'

Sequencing Primer
(F):5'- GGATCCTGTGAGATGAAAAATCATC -3'
(R):5'- CCATATGGGTCTTGGGGATTGAG -3'

Posted On

2021-04-30