Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Ints4'

643832

Institutional Source

Beutler Lab

Gene Symbol

Ints4

Ensembl Gene

ENSMUSG00000025133

Gene Name

integrator complex subunit 4

Synonyms

2610034N24Rik

MMRRC Submission

067543-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8114 (G1)

Quality Score

76.0075

Status

Validated

Chromosome

Chromosomal Location

97130163-97190602 bp(+) (GRCm39)

Type of Mutation

splice site (184 bp from exon)

DNA Base Change (assembly)

A to G at 97165732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026126 (fasta)

Gene Model

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

AlphaFold

Q8CIM8

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	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
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
R8777-TAIL: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

PCR Primer
(F):5'- TGGACGATCCAGCTTGTATCC -3'
(R):5'- GGCATAACATCTGGCTGCAG -3'

Sequencing Primer
(F):5'- ATCCTCTATGCTTAGTTCAGATGGGC -3'
(R):5'- TCCTAAGGTTGTGTGGCA -3'

Posted On

2020-08-27