Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Ints5'

536058

Institutional Source

Beutler Lab

Gene Symbol

Ints5

Ensembl Gene

ENSMUSG00000116347

Gene Name

integrator complex subunit 5

Synonyms

1110055N21Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R6868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8870369-8875252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 8874750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 903 (L903R)

Ref Sequence

ENSEMBL: ENSMUSP00000093968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096246] [ENSMUST00000096249] [ENSMUST00000187504] [ENSMUST00000191089]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096246

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	157	169	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	275	346	3.9e-24	PFAM
Pfam:Glyco_hydro_31	387	832	8.7e-136	PFAM
low complexity region	888	898	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096249
AA Change: L903R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652
AA Change: L903R

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:INTS5_N	29	252	1e-82	PFAM
low complexity region	254	267	N/A	INTRINSIC
Pfam:INTS5_C	289	998	2.2e-249	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187504

SMART Domains

Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740

Domain	Start	End	E-Value	Type
Pfam:Lbh	1	101	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191089

SMART Domains

Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,559 (GRCm39)	N204I	probably damaging	Het
Aasdh	C	T	5: 77,039,527 (GRCm39)	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,593,839 (GRCm39)	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,855 (GRCm39)	L87P	probably damaging	Het
Alcam	G	A	16: 52,088,748 (GRCm39)	S554F	probably damaging	Het
Ambra1	T	C	2: 91,747,878 (GRCm39)	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,987,404 (GRCm39)	V150G	unknown	Het
C3	T	C	17: 57,511,029 (GRCm39)	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cdk4	T	C	10: 126,900,870 (GRCm39)	V174A	probably benign	Het
Ces2h	T	A	8: 105,745,055 (GRCm39)	N396K	probably benign	Het
Cfap144	C	T	11: 58,683,732 (GRCm39)	D113N	probably damaging	Het
Chd7	T	C	4: 8,811,501 (GRCm39)		probably null	Het
Cnih4	A	G	1: 180,993,762 (GRCm39)	I76V	probably null	Het
Csmd2	G	A	4: 128,336,633 (GRCm39)	V1404I	probably benign	Het
Ctrb1	T	C	8: 112,416,035 (GRCm39)	D53G	probably benign	Het
Cul9	C	A	17: 46,833,109 (GRCm39)	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,412,710 (GRCm39)	V1230A	possibly damaging	Het
Dgat2	T	C	7: 98,807,513 (GRCm39)	D219G	probably benign	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dock9	G	T	14: 121,823,676 (GRCm39)	A1412E	probably benign	Het
Dscam	C	T	16: 96,631,140 (GRCm39)	V292M	probably damaging	Het
Fras1	T	A	5: 96,830,237 (GRCm39)	V1509E	probably benign	Het
Fryl	T	C	5: 73,226,146 (GRCm39)	Q1839R	probably damaging	Het
Gcat	A	G	15: 78,919,566 (GRCm39)	D177G	probably damaging	Het
Gss	T	C	2: 155,409,732 (GRCm39)	T235A	possibly damaging	Het
Ints10	T	A	8: 69,250,450 (GRCm39)	M114K	probably damaging	Het
Lipo2	G	T	19: 33,725,862 (GRCm39)	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,587,591 (GRCm39)	C494Y	probably damaging	Het
Milr1	T	C	11: 106,654,747 (GRCm39)	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,219,244 (GRCm39)	I278N	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,889,766 (GRCm39)	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,330,669 (GRCm39)	G358D	probably damaging	Het
Nav3	T	C	10: 109,529,027 (GRCm39)	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 27,060,268 (GRCm39)	E21G	probably damaging	Het
Nos2	C	T	11: 78,848,332 (GRCm39)	R967C	probably benign	Het
Or6c215	T	C	10: 129,638,037 (GRCm39)	D119G	probably damaging	Het
Parp10	T	C	15: 76,127,306 (GRCm39)	R44G	probably damaging	Het
Pced1b	A	G	15: 97,282,222 (GRCm39)	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,003,036 (GRCm39)	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,176 (GRCm39)	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,557,111 (GRCm39)	L449P	probably damaging	Het
Prkd1	T	C	12: 50,472,320 (GRCm39)	R198G	probably damaging	Het
Pth2r	C	A	1: 65,427,638 (GRCm39)	A437E	probably benign	Het
Ptprh	A	T	7: 4,604,864 (GRCm39)	I60N	probably benign	Het
Pxmp2	C	T	5: 110,433,846 (GRCm39)	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,633,168 (GRCm39)	K55E	probably benign	Het
Slc18b1	T	C	10: 23,680,132 (GRCm39)	V109A	possibly damaging	Het
Slx4ip	T	A	2: 136,842,130 (GRCm39)	D18E	probably damaging	Het
Stk40	A	G	4: 126,017,607 (GRCm39)	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,061,240 (GRCm39)	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,790,721 (GRCm39)		probably null	Het
Tmc6	T	A	11: 117,665,143 (GRCm39)	I377F	probably benign	Het
Tmem131l	T	C	3: 83,868,938 (GRCm39)	I146V	probably damaging	Het
Trac	T	A	14: 54,458,049 (GRCm39)		probably benign	Het
Trpm7	T	C	2: 126,679,334 (GRCm39)	D409G	probably damaging	Het
Usp39	A	T	6: 72,314,734 (GRCm39)	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 25,966,727 (GRCm39)	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,852,218 (GRCm39)	I33L	probably benign	Het

Other mutations in Ints5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ints5	APN	19	8,872,851 (GRCm39)	missense	possibly damaging	0.93
IGL01915:Ints5	APN	19	8,874,357 (GRCm39)	missense	probably benign
IGL01993:Ints5	APN	19	8,872,829 (GRCm39)	missense	probably benign
IGL02264:Ints5	APN	19	8,873,076 (GRCm39)	missense	probably benign	0.02
IGL02367:Ints5	APN	19	8,872,959 (GRCm39)	missense	probably benign	0.06
IGL02955:Ints5	APN	19	8,875,014 (GRCm39)	missense	probably damaging	1.00
FR4449:Ints5	UTSW	19	8,874,594 (GRCm39)	missense	probably benign	0.10
R0348:Ints5	UTSW	19	8,873,114 (GRCm39)	missense	probably damaging	0.97
R0379:Ints5	UTSW	19	8,874,497 (GRCm39)	missense	possibly damaging	0.90
R0617:Ints5	UTSW	19	8,873,383 (GRCm39)	missense	probably damaging	1.00
R1954:Ints5	UTSW	19	8,872,260 (GRCm39)	missense	probably damaging	1.00
R2172:Ints5	UTSW	19	8,873,646 (GRCm39)	missense	possibly damaging	0.73
R2370:Ints5	UTSW	19	8,874,143 (GRCm39)	missense	probably benign
R3116:Ints5	UTSW	19	8,872,136 (GRCm39)	missense	possibly damaging	0.84
R4395:Ints5	UTSW	19	8,873,808 (GRCm39)	missense	probably damaging	0.96
R5390:Ints5	UTSW	19	8,873,931 (GRCm39)	missense	possibly damaging	0.73
R7133:Ints5	UTSW	19	8,872,923 (GRCm39)	missense	probably damaging	1.00
R7685:Ints5	UTSW	19	8,874,168 (GRCm39)	missense	probably benign	0.10
R7999:Ints5	UTSW	19	8,874,407 (GRCm39)	missense	probably benign
R8024:Ints5	UTSW	19	8,873,504 (GRCm39)	missense	probably damaging	1.00
R8296:Ints5	UTSW	19	8,872,484 (GRCm39)	missense	probably damaging	1.00
R8672:Ints5	UTSW	19	8,873,370 (GRCm39)	missense	probably damaging	1.00
R9027:Ints5	UTSW	19	8,873,322 (GRCm39)	missense	possibly damaging	0.77
R9493:Ints5	UTSW	19	8,872,686 (GRCm39)	missense	probably damaging	1.00
X0066:Ints5	UTSW	19	8,873,595 (GRCm39)	missense	probably damaging	1.00
Z1177:Ints5	UTSW	19	8,872,337 (GRCm39)	missense	probably damaging	0.99
Z1177:Ints5	UTSW	19	8,872,299 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TCCGAATTGGTAGGCGCTTC -3'
(R):5'- AGATGTGGTCCTCCTTCAGCTC -3'

Sequencing Primer
(F):5'- TTCCGGGAACAACCTCTGCTG -3'
(R):5'- CCACGTTCAGACTGGAAGATG -3'

Posted On

2018-10-18