Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Ints4'

510030

Institutional Source

Beutler Lab

Gene Symbol

Ints4

Ensembl Gene

ENSMUSG00000025133

Gene Name

integrator complex subunit 4

Synonyms

2610034N24Rik

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97130163-97190602 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 97178425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 675 (L675*)

Ref Sequence

ENSEMBL: ENSMUSP00000026126 (fasta)

Gene Model

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

AlphaFold

Q8CIM8

Predicted Effect

probably null
Transcript: ENSMUST00000026126
AA Change: L675*

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: L675*

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

noncoding transcript
Transcript: ENSMUST00000205387

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	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
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
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'- ATAGACAGCTTAGGGTGCTCAG -3'
(R):5'- AGTCACACAGGCATAGTTCTAAC -3'

Sequencing Primer
(F):5'- AGTCATCTGTCTGAGCGCCAG -3'
(R):5'- GGCATAGTTCTAACTAAGAGCCTG -3'

Posted On

2018-04-02