Mutagenetix > Incidental Mutations

Incidental Mutation 'R6160:Ints4'

501891

Institutional Source

Beutler Lab

Gene Symbol

Ints4

Ensembl Gene

ENSMUSG00000025133

Gene Name

integrator complex subunit 4

Synonyms

2610034N24Rik

MMRRC Submission

044307-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97480956-97541395 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 97509583 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026126] [ENSMUST00000026126] [ENSMUST00000026126] [ENSMUST00000026126]

Predicted Effect

probably null
Transcript: ENSMUST00000026126

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	153	258	9.8e-9	PFAM
Pfam:Cohesin_HEAT	179	219	7.7e-6	PFAM
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000026126

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	153	258	9.8e-9	PFAM
Pfam:Cohesin_HEAT	179	219	7.7e-6	PFAM
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000026126

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	153	258	9.8e-9	PFAM
Pfam:Cohesin_HEAT	179	219	7.7e-6	PFAM
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000026126

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	153	258	9.8e-9	PFAM
Pfam:Cohesin_HEAT	179	219	7.7e-6	PFAM
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206644

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	A	6: 149,331,507		probably null	Het
4930433I11Rik	T	A	7: 40,993,526	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,294,326	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 70,883,910	S34T	unknown	Het
Ace3	T	A	11: 105,994,732	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,310,687	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,162,549		probably benign	Het
Atm	A	C	9: 53,490,959	H1404Q	probably benign	Het
AW209491	A	G	13: 14,636,721	E53G	probably damaging	Het
Cdt1	C	T	8: 122,571,368	T366I	probably benign	Het
Cerk	A	T	15: 86,142,773	C179S	probably benign	Het
Cldn10	T	C	14: 118,861,843	V123A	possibly damaging	Het
Clip1	T	C	5: 123,613,541	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,188,821	L171P	probably damaging	Het
Dip2c	G	A	13: 9,533,254	V91I	probably benign	Het
Dlec1	A	G	9: 119,143,319	I1431V	probably benign	Het
Egln1	T	C	8: 124,948,492	D188G	probably damaging	Het
Enpp5	T	A	17: 44,081,368	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,836,298	I221L	probably benign	Het
Fsip2	G	A	2: 82,987,945	W4674*	probably null	Het
Gm12185	G	A	11: 48,908,428	Q413*	probably null	Het
Gm5096	G	A	18: 87,757,121	C256Y	probably damaging	Het
Gm7298	A	T	6: 121,764,927	H436L	probably benign	Het
Gucy2c	G	A	6: 136,740,686	Q430*	probably null	Het
Hgd	A	G	16: 37,613,298	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,705,999	E151G	probably damaging	Het
Il15ra	A	G	2: 11,720,016	D99G	probably damaging	Het
Itgb1	T	A	8: 128,720,283	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,518,755	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,716,559	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,892,383	I178N	probably damaging	Het
Kidins220	A	G	12: 24,997,311	D252G	probably damaging	Het
Krt23	A	G	11: 99,485,718	I204T	probably damaging	Het
Lipo4	A	G	19: 33,503,293	L225P	probably damaging	Het
Lrp3	T	C	7: 35,204,123	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857	D282G	probably damaging	Het
Myo1c	A	T	11: 75,650,742	H18L	probably benign	Het
Myo1f	C	A	17: 33,604,344	P981Q	probably benign	Het
Nle1	A	T	11: 82,908,157	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,321,306	M406R	probably damaging	Het
Obscn	A	T	11: 59,051,785	V4857E	probably damaging	Het
Palb2	A	T	7: 122,128,420		probably null	Het
Phospho1	A	T	11: 95,830,624	E22V	probably damaging	Het
Pom121l2	C	T	13: 21,983,668	S703L	possibly damaging	Het
Prex2	T	C	1: 10,993,851	L20P	probably damaging	Het
Psmb7	T	C	2: 38,643,381	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,484,507	I532T	probably damaging	Het
Rcn1	T	C	2: 105,392,017	D208G	probably damaging	Het
Recql5	A	G	11: 115,932,787		probably null	Het
Rfc4	A	T	16: 23,114,683	I242N	probably damaging	Het
Rims1	T	C	1: 22,432,984	Y650C	probably damaging	Het
Shc2	C	T	10: 79,627,019		probably null	Het
Slc14a2	A	T	18: 78,158,975		probably null	Het
Slc6a6	A	T	6: 91,740,014		probably null	Het
Synj2	C	A	17: 6,008,061	H275N	possibly damaging	Het
T	A	T	17: 8,441,786	T410S	probably benign	Het
Tarsl2	A	G	7: 65,682,779	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,372,403	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,606,289	L425*	probably null	Het
Trav14-3	A	G	14: 53,763,521	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,803,270	D133A	probably damaging	Het
Vmn1r119	T	G	7: 21,011,815	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,509,418	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,145,833	Y454F	probably benign	Het
Zmym2	T	C	14: 56,950,309	L1144P	probably damaging	Het

Other mutations in Ints4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Ints4	APN	7	97535205	missense	probably damaging	1.00
IGL01736:Ints4	APN	7	97526642	missense	probably benign	0.01
IGL01862:Ints4	APN	7	97541153	missense	probably damaging	1.00
IGL02277:Ints4	APN	7	97487458	missense	probably damaging	1.00
IGL02396:Ints4	APN	7	97537900	missense	possibly damaging	0.64
IGL02661:Ints4	APN	7	97495705	missense	probably benign
IGL02750:Ints4	APN	7	97517757	critical splice donor site	probably null
IGL03108:Ints4	APN	7	97490930	critical splice acceptor site	probably null
R0332:Ints4	UTSW	7	97517718	missense	probably damaging	1.00
R0449:Ints4	UTSW	7	97529223	missense	probably damaging	0.97
R1065:Ints4	UTSW	7	97507892	critical splice donor site	probably null
R1722:Ints4	UTSW	7	97513579	missense	probably benign	0.24
R2060:Ints4	UTSW	7	97501763	missense	possibly damaging	0.93
R2211:Ints4	UTSW	7	97509750	missense	possibly damaging	0.63
R3731:Ints4	UTSW	7	97506101	missense	probably benign	0.18
R3881:Ints4	UTSW	7	97516257	missense	possibly damaging	0.94
R4089:Ints4	UTSW	7	97529255	nonsense	probably null
R4192:Ints4	UTSW	7	97507733	missense	probably damaging	1.00
R4479:Ints4	UTSW	7	97484971	missense	probably damaging	1.00
R4980:Ints4	UTSW	7	97501850	critical splice donor site	probably null
R5029:Ints4	UTSW	7	97509774	missense	probably benign	0.06
R5306:Ints4	UTSW	7	97509678	missense	probably damaging	1.00
R6317:Ints4	UTSW	7	97529218	nonsense	probably null
R6961:Ints4	UTSW	7	97541190	makesense	probably null
R7026:Ints4	UTSW	7	97519154	missense	possibly damaging	0.50
R7156:Ints4	UTSW	7	97535286	critical splice donor site	probably null
R7205:Ints4	UTSW	7	97535226	nonsense	probably null
R7234:Ints4	UTSW	7	97530300	missense	probably benign	0.00
R7418:Ints4	UTSW	7	97490972	missense	probably benign	0.03
R7423:Ints4	UTSW	7	97507719	missense	probably damaging	1.00
R7462:Ints4	UTSW	7	97506128	missense	probably benign	0.11
R7658:Ints4	UTSW	7	97529253	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CACCCATGTGGATAAGATGAGG -3'
(R):5'- ACAGCCAGGACAGTGTCAAG -3'

Sequencing Primer
(F):5'- GGGACAAAAGGCCCATATTAAGCATC -3'
(R):5'- CAGGACAGTGTCAAGCTGATCTTC -3'

Posted On

2017-12-04