Mutagenetix > Incidental Mutation

Incidental Mutation 'R8295:Ints2'

638894

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

067714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86115914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 772 (T772A)

Ref Sequence

ENSEMBL: ENSMUSP00000018212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018212] [ENSMUST00000108039]

AlphaFold

Q80UK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000018212
AA Change: T772A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T772A

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1131	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108039
AA Change: T772A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T772A

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1132	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134828

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,974,188 (GRCm39)	I915S	probably benign	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ahdc1	T	A	4: 132,788,762 (GRCm39)	M1K	probably null	Het
Akr1c12	T	G	13: 4,322,355 (GRCm39)	D229A	probably benign	Het
Ankfn1	C	T	11: 89,302,923 (GRCm39)	V32M	probably benign	Het
C7	A	T	15: 5,018,327 (GRCm39)	C839S	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc110	A	G	8: 46,396,416 (GRCm39)	D769G	probably damaging	Het
Clk2	G	T	3: 89,080,766 (GRCm39)	D251Y	probably damaging	Het
Dlx1	C	A	2: 71,362,726 (GRCm39)	P211Q	probably benign	Het
Dock8	G	A	19: 25,100,600 (GRCm39)	A703T	probably benign	Het
Eif2d	T	A	1: 131,085,988 (GRCm39)	L161Q	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fndc3a	T	C	14: 72,789,959 (GRCm39)	I1079V	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,262,234 (GRCm39)	V1104A	probably benign	Het
H2-Ab1	A	T	17: 34,483,816 (GRCm39)	Y59F	probably damaging	Het
Kcnh4	A	G	11: 100,640,523 (GRCm39)	V501A	probably benign	Het
Ltbp1	A	T	17: 75,486,184 (GRCm39)	T70S	probably benign	Het
Obox2	A	G	7: 15,131,247 (GRCm39)	T118A	probably benign	Het
Or52ab4	C	T	7: 102,987,474 (GRCm39)	T71I	probably benign	Het
Or8k17	T	C	2: 86,066,916 (GRCm39)	M88V	probably benign	Het
Pih1d2	C	T	9: 50,532,379 (GRCm39)	H146Y	probably damaging	Het
Pou2af1	C	T	9: 51,144,305 (GRCm39)	S73F	possibly damaging	Het
Rnase2a	T	A	14: 51,493,096 (GRCm39)	I90L	probably benign	Het
S100a16	T	A	3: 90,449,336 (GRCm39)	C4S	probably benign	Het
Sprr1a	T	C	3: 92,391,849 (GRCm39)	K51E	possibly damaging	Het
Tmem168	A	T	6: 13,602,850 (GRCm39)	M172K	probably damaging	Het
Tnrc6b	T	C	15: 80,797,565 (GRCm39)	S1371P	probably damaging	Het
Trav21-dv12	T	A	14: 54,113,510 (GRCm39)	L13*	probably null	Het
Vmn1r234	T	A	17: 21,449,101 (GRCm39)	V5D	probably benign	Het
Vmn2r18	A	G	5: 151,508,621 (GRCm39)	C168R	probably damaging	Het
Vmn2r90	C	T	17: 17,948,358 (GRCm39)	P535S	probably benign	Het
Zfp595	A	G	13: 67,464,764 (GRCm39)	C503R	possibly damaging	Het

Other mutations in Ints2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ints2	APN	11	86,123,961 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ints2	APN	11	86,124,009 (GRCm39)	missense	possibly damaging	0.93
IGL02612:Ints2	APN	11	86,106,404 (GRCm39)	missense	probably damaging	1.00
IGL03396:Ints2	APN	11	86,103,888 (GRCm39)	missense	probably damaging	0.99
R0015:Ints2	UTSW	11	86,140,113 (GRCm39)	missense	probably damaging	1.00
R0015:Ints2	UTSW	11	86,140,113 (GRCm39)	missense	probably damaging	1.00
R0355:Ints2	UTSW	11	86,125,575 (GRCm39)	missense	probably benign	0.00
R0389:Ints2	UTSW	11	86,139,677 (GRCm39)	missense	probably damaging	1.00
R0631:Ints2	UTSW	11	86,124,022 (GRCm39)	missense	probably benign	0.02
R0944:Ints2	UTSW	11	86,135,289 (GRCm39)	missense	possibly damaging	0.85
R1268:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1269:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1270:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1396:Ints2	UTSW	11	86,140,074 (GRCm39)	missense	probably damaging	0.98
R1474:Ints2	UTSW	11	86,117,607 (GRCm39)	missense	probably damaging	0.97
R1503:Ints2	UTSW	11	86,117,607 (GRCm39)	missense	probably damaging	0.97
R1840:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1987:Ints2	UTSW	11	86,108,626 (GRCm39)	missense	probably benign	0.03
R1990:Ints2	UTSW	11	86,139,760 (GRCm39)	missense	possibly damaging	0.58
R1991:Ints2	UTSW	11	86,139,760 (GRCm39)	missense	possibly damaging	0.58
R3694:Ints2	UTSW	11	86,133,827 (GRCm39)	missense	probably benign	0.41
R4056:Ints2	UTSW	11	86,133,778 (GRCm39)	missense	probably damaging	1.00
R4057:Ints2	UTSW	11	86,133,778 (GRCm39)	missense	probably damaging	1.00
R4569:Ints2	UTSW	11	86,147,024 (GRCm39)	missense	probably damaging	1.00
R4585:Ints2	UTSW	11	86,140,101 (GRCm39)	missense	probably damaging	1.00
R4586:Ints2	UTSW	11	86,140,101 (GRCm39)	missense	probably damaging	1.00
R4806:Ints2	UTSW	11	86,147,035 (GRCm39)	missense	probably benign	0.10
R4929:Ints2	UTSW	11	86,103,479 (GRCm39)	missense	possibly damaging	0.56
R5031:Ints2	UTSW	11	86,147,026 (GRCm39)	missense	probably damaging	1.00
R5064:Ints2	UTSW	11	86,140,100 (GRCm39)	missense	probably damaging	1.00
R5270:Ints2	UTSW	11	86,106,621 (GRCm39)	missense	probably damaging	1.00
R5621:Ints2	UTSW	11	86,133,773 (GRCm39)	missense	probably benign	0.32
R5875:Ints2	UTSW	11	86,129,138 (GRCm39)	missense	probably benign	0.04
R5908:Ints2	UTSW	11	86,106,371 (GRCm39)	critical splice donor site	probably null
R5914:Ints2	UTSW	11	86,113,000 (GRCm39)	missense	probably benign	0.03
R5941:Ints2	UTSW	11	86,141,798 (GRCm39)	missense	probably benign	0.01
R5975:Ints2	UTSW	11	86,117,574 (GRCm39)	missense	possibly damaging	0.72
R6003:Ints2	UTSW	11	86,129,294 (GRCm39)	missense	probably damaging	1.00
R6091:Ints2	UTSW	11	86,127,429 (GRCm39)	missense	probably damaging	0.96
R6209:Ints2	UTSW	11	86,115,884 (GRCm39)	missense	probably damaging	1.00
R6567:Ints2	UTSW	11	86,117,487 (GRCm39)	missense	probably benign	0.42
R6764:Ints2	UTSW	11	86,103,605 (GRCm39)	missense	probably benign	0.00
R7033:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R7132:Ints2	UTSW	11	86,108,580 (GRCm39)	missense	probably benign	0.26
R7337:Ints2	UTSW	11	86,108,668 (GRCm39)	missense	probably benign	0.00
R7410:Ints2	UTSW	11	86,124,052 (GRCm39)	missense	probably benign	0.02
R7483:Ints2	UTSW	11	86,106,444 (GRCm39)	missense	probably damaging	1.00
R7503:Ints2	UTSW	11	86,122,881 (GRCm39)	missense	probably benign
R7804:Ints2	UTSW	11	86,103,489 (GRCm39)	missense	possibly damaging	0.92
R7845:Ints2	UTSW	11	86,129,089 (GRCm39)	missense	possibly damaging	0.93
R7875:Ints2	UTSW	11	86,103,888 (GRCm39)	missense	probably damaging	0.99
R7918:Ints2	UTSW	11	86,113,043 (GRCm39)	missense	probably damaging	1.00
R7922:Ints2	UTSW	11	86,135,453 (GRCm39)	missense	probably benign	0.29
R8058:Ints2	UTSW	11	86,146,179 (GRCm39)	missense	probably benign	0.05
R8134:Ints2	UTSW	11	86,103,486 (GRCm39)	missense	probably damaging	1.00
R8189:Ints2	UTSW	11	86,106,396 (GRCm39)	missense	probably damaging	1.00
R8348:Ints2	UTSW	11	86,146,249 (GRCm39)	missense	probably benign
R8448:Ints2	UTSW	11	86,146,249 (GRCm39)	missense	probably benign
R8784:Ints2	UTSW	11	86,115,941 (GRCm39)	nonsense	probably null
R8784:Ints2	UTSW	11	86,112,963 (GRCm39)	missense	probably damaging	1.00
R8942:Ints2	UTSW	11	86,103,720 (GRCm39)	missense	probably benign	0.00
R9037:Ints2	UTSW	11	86,106,530 (GRCm39)	missense	probably benign
R9154:Ints2	UTSW	11	86,125,524 (GRCm39)	missense	probably damaging	1.00
R9397:Ints2	UTSW	11	86,135,311 (GRCm39)	missense	probably benign	0.01
R9412:Ints2	UTSW	11	86,117,589 (GRCm39)	missense	probably damaging	0.99
R9472:Ints2	UTSW	11	86,133,824 (GRCm39)	missense
R9476:Ints2	UTSW	11	86,135,335 (GRCm39)	missense	probably benign
R9510:Ints2	UTSW	11	86,135,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTCTGGTCCATAAAGCAGTAG -3'
(R):5'- GCTGCTAACTGGGAAGTTTTC -3'

Sequencing Primer
(F):5'- CAGTAGACAGAATTTACCTTCTTGGC -3'
(R):5'- CTAACTGGGAAGTTTTCTAATGGC -3'

Posted On

2020-07-28