Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Ints5'

661233

Institutional Source

Beutler Lab

Gene Symbol

Ints5

Ensembl Gene

ENSMUSG00000116347

Gene Name

integrator complex subunit 5

Synonyms

1110055N21Rik

MMRRC Submission

068527-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R8672 (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 A at 8873370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 443 (L443Q)

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: L443Q

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

SMART Domains

Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652
AA Change: L443Q

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: 99.3%
20x: 97.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Chit1	T	C	1: 134,079,005 (GRCm39)	V360A	unknown	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,518,890 (GRCm39)	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,512,988 (GRCm39)	S8P	probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or5a1	C	T	19: 12,097,921 (GRCm39)	V52M	probably benign	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,642,107 (GRCm39)	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	possibly damaging	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
R6868:Ints5	UTSW	19	8,874,750 (GRCm39)	missense	probably damaging	1.00
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
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'- AAACCTGGCTGTGCATCTAG -3'
(R):5'- AGTAGATGACCCAAGGCCTC -3'

Sequencing Primer
(F):5'- CTGTGCATCTAGTGAGCCAG -3'
(R):5'- TCCACAGCTAGGTCGTGTATAGAC -3'

Posted On

2021-03-08