Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777-TAIL:Ints4'

668115

Institutional Source

Beutler Lab

Gene Symbol

Ints4

Ensembl Gene

ENSMUSG00000025133

Gene Name

integrator complex subunit 4

Synonyms

2610034N24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8777-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97130163-97190602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97134227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 53 (A53D)

Ref Sequence

ENSEMBL: ENSMUSP00000026126 (fasta)

Gene Model

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

AlphaFold

Q8CIM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026126
AA Change: A53D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: A53D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	probably benign	Het

Other mutations in Ints4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Ints4	APN	7	97,184,412 (GRCm39)	missense	probably damaging	1.00
IGL01736:Ints4	APN	7	97,175,849 (GRCm39)	missense	probably benign	0.01
IGL01862:Ints4	APN	7	97,190,360 (GRCm39)	missense	probably damaging	1.00
IGL02277:Ints4	APN	7	97,136,665 (GRCm39)	missense	probably damaging	1.00
IGL02396:Ints4	APN	7	97,187,107 (GRCm39)	missense	possibly damaging	0.64
IGL02661:Ints4	APN	7	97,144,912 (GRCm39)	missense	probably benign
IGL02750:Ints4	APN	7	97,166,964 (GRCm39)	critical splice donor site	probably null
IGL03108:Ints4	APN	7	97,140,137 (GRCm39)	critical splice acceptor site	probably null
R0332:Ints4	UTSW	7	97,166,925 (GRCm39)	missense	probably damaging	1.00
R0449:Ints4	UTSW	7	97,178,430 (GRCm39)	missense	probably damaging	0.97
R1065:Ints4	UTSW	7	97,157,099 (GRCm39)	critical splice donor site	probably null
R1722:Ints4	UTSW	7	97,162,786 (GRCm39)	missense	probably benign	0.24
R2060:Ints4	UTSW	7	97,150,970 (GRCm39)	missense	possibly damaging	0.93
R2211:Ints4	UTSW	7	97,158,957 (GRCm39)	missense	possibly damaging	0.63
R3731:Ints4	UTSW	7	97,155,308 (GRCm39)	missense	probably benign	0.18
R3881:Ints4	UTSW	7	97,165,464 (GRCm39)	missense	possibly damaging	0.94
R4089:Ints4	UTSW	7	97,178,462 (GRCm39)	nonsense	probably null
R4192:Ints4	UTSW	7	97,156,940 (GRCm39)	missense	probably damaging	1.00
R4479:Ints4	UTSW	7	97,134,178 (GRCm39)	missense	probably damaging	1.00
R4980:Ints4	UTSW	7	97,151,057 (GRCm39)	critical splice donor site	probably null
R5029:Ints4	UTSW	7	97,158,981 (GRCm39)	missense	probably benign	0.06
R5306:Ints4	UTSW	7	97,158,885 (GRCm39)	missense	probably damaging	1.00
R6160:Ints4	UTSW	7	97,158,790 (GRCm39)	splice site	probably null
R6317:Ints4	UTSW	7	97,178,425 (GRCm39)	nonsense	probably null
R6961:Ints4	UTSW	7	97,190,397 (GRCm39)	makesense	probably null
R7026:Ints4	UTSW	7	97,168,361 (GRCm39)	missense	possibly damaging	0.50
R7156:Ints4	UTSW	7	97,184,493 (GRCm39)	critical splice donor site	probably null
R7205:Ints4	UTSW	7	97,184,433 (GRCm39)	nonsense	probably null
R7234:Ints4	UTSW	7	97,179,507 (GRCm39)	missense	probably benign	0.00
R7418:Ints4	UTSW	7	97,140,179 (GRCm39)	missense	probably benign	0.03
R7423:Ints4	UTSW	7	97,156,926 (GRCm39)	missense	probably damaging	1.00
R7462:Ints4	UTSW	7	97,155,335 (GRCm39)	missense	probably benign	0.11
R7658:Ints4	UTSW	7	97,178,460 (GRCm39)	missense	possibly damaging	0.90
R7947:Ints4	UTSW	7	97,148,792 (GRCm39)	missense	probably benign
R8114:Ints4	UTSW	7	97,165,732 (GRCm39)	splice site	probably null
R8426:Ints4	UTSW	7	97,150,239 (GRCm39)	nonsense	probably null
R8765:Ints4	UTSW	7	97,151,016 (GRCm39)	missense	possibly damaging	0.70
R8777:Ints4	UTSW	7	97,134,227 (GRCm39)	missense	probably damaging	1.00
R8944:Ints4	UTSW	7	97,183,593 (GRCm39)	missense	probably benign
R9001:Ints4	UTSW	7	97,190,276 (GRCm39)	missense	possibly damaging	0.51
R9057:Ints4	UTSW	7	97,158,987 (GRCm39)	missense	possibly damaging	0.90
R9315:Ints4	UTSW	7	97,156,840 (GRCm39)	intron	probably benign

Predicted Primers

Posted On

2021-03-08