Mutagenetix > Incidental Mutation

Incidental Mutation 'R0657:Ints8'

218664

Institutional Source

Beutler Lab

Gene Symbol

Ints8

Ensembl Gene

ENSMUSG00000040738

Gene Name

integrator complex subunit 8

Synonyms

2810013E07Rik, D130008D20Rik

MMRRC Submission

038842-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0657 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11199158-11254258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11246097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 190 (V190L)

Ref Sequence

ENSEMBL: ENSMUSP00000103955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319]

AlphaFold

Q80V86

Predicted Effect

probably benign
Transcript: ENSMUST00000044616
AA Change: V190L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: V190L

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108318
AA Change: V190L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: V190L

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
SCOP:d1a17__	826	961	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108319
AA Change: V190L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: V190L

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

All alleles(14) : Targeted(1) Gene trapped(13)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Aldh7a1	C	T	18: 56,670,269 (GRCm39)		probably benign	Het
Bfsp1	A	C	2: 143,669,570 (GRCm39)		probably benign	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Chd7	T	C	4: 8,753,141 (GRCm39)	V546A	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
F13a1	A	T	13: 37,152,079 (GRCm39)	D237E	probably damaging	Het
F8	T	C	X: 74,255,022 (GRCm39)	Q2124R	possibly damaging	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hmgcs2	A	G	3: 98,198,369 (GRCm39)	T91A	probably benign	Het
Huwe1	T	C	X: 150,702,924 (GRCm39)	I3463T	probably benign	Het
Iars1	T	C	13: 49,855,995 (GRCm39)	Y289H	probably damaging	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kif14	C	T	1: 136,396,840 (GRCm39)	T382I	probably benign	Het
Lypd10	T	A	7: 24,412,872 (GRCm39)	D93E	probably benign	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mroh2a	C	A	1: 88,183,287 (GRCm39)	L1292I	probably damaging	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,661,565 (GRCm39)	V1054A	possibly damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Tars2	A	T	3: 95,655,869 (GRCm39)	V289E	probably benign	Het
Tmem135	A	T	7: 88,793,890 (GRCm39)	I384N	probably damaging	Het
Trip12	C	T	1: 84,736,771 (GRCm39)	M816I	probably benign	Het
Ulk2	T	C	11: 61,698,880 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Ints8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Ints8	APN	4	11,218,679 (GRCm39)	splice site	probably benign
IGL01925:Ints8	APN	4	11,235,617 (GRCm39)	splice site	probably benign
IGL02195:Ints8	APN	4	11,221,222 (GRCm39)	missense	probably damaging	1.00
IGL02215:Ints8	APN	4	11,209,244 (GRCm39)	missense	probably damaging	1.00
IGL02429:Ints8	APN	4	11,231,720 (GRCm39)	missense	probably damaging	1.00
IGL02484:Ints8	APN	4	11,208,834 (GRCm39)	nonsense	probably null
IGL02558:Ints8	APN	4	11,218,771 (GRCm39)	missense	probably damaging	1.00
IGL02725:Ints8	APN	4	11,239,406 (GRCm39)	missense	probably benign	0.01
IGL02742:Ints8	APN	4	11,241,627 (GRCm39)	missense	possibly damaging	0.75
IGL02831:Ints8	APN	4	11,245,896 (GRCm39)	missense	possibly damaging	0.51
IGL03140:Ints8	APN	4	11,235,565 (GRCm39)	missense	probably damaging	1.00
IGL03171:Ints8	APN	4	11,231,702 (GRCm39)	missense	probably benign	0.01
IGL03335:Ints8	APN	4	11,216,460 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Ints8	UTSW	4	11,246,120 (GRCm39)	missense	probably damaging	1.00
P0026:Ints8	UTSW	4	11,225,788 (GRCm39)	nonsense	probably null
R0054:Ints8	UTSW	4	11,204,595 (GRCm39)	utr 3 prime	probably benign
R0063:Ints8	UTSW	4	11,252,857 (GRCm39)	missense	probably damaging	1.00
R0063:Ints8	UTSW	4	11,252,857 (GRCm39)	missense	probably damaging	1.00
R0184:Ints8	UTSW	4	11,218,637 (GRCm39)	missense	probably benign	0.03
R0299:Ints8	UTSW	4	11,246,097 (GRCm39)	missense	probably benign	0.04
R0499:Ints8	UTSW	4	11,246,097 (GRCm39)	missense	probably benign	0.04
R0540:Ints8	UTSW	4	11,252,926 (GRCm39)	missense	possibly damaging	0.94
R1232:Ints8	UTSW	4	11,234,587 (GRCm39)	missense	possibly damaging	0.81
R1296:Ints8	UTSW	4	11,221,204 (GRCm39)	missense	possibly damaging	0.95
R1390:Ints8	UTSW	4	11,239,461 (GRCm39)	missense	probably benign	0.22
R1503:Ints8	UTSW	4	11,245,842 (GRCm39)	missense	probably damaging	0.97
R1587:Ints8	UTSW	4	11,245,722 (GRCm39)	critical splice donor site	probably null
R1701:Ints8	UTSW	4	11,231,656 (GRCm39)	missense	probably damaging	1.00
R1721:Ints8	UTSW	4	11,241,684 (GRCm39)	missense	probably damaging	0.97
R1757:Ints8	UTSW	4	11,254,109 (GRCm39)	start codon destroyed	probably null	0.99
R1777:Ints8	UTSW	4	11,225,600 (GRCm39)	critical splice donor site	probably null
R1867:Ints8	UTSW	4	11,241,684 (GRCm39)	missense	probably damaging	0.97
R1868:Ints8	UTSW	4	11,241,684 (GRCm39)	missense	probably damaging	0.97
R1952:Ints8	UTSW	4	11,221,150 (GRCm39)	missense	probably benign	0.21
R2084:Ints8	UTSW	4	11,230,377 (GRCm39)	missense	probably benign	0.31
R2108:Ints8	UTSW	4	11,235,552 (GRCm39)	missense	probably damaging	0.99
R2202:Ints8	UTSW	4	11,225,712 (GRCm39)	missense	possibly damaging	0.79
R2203:Ints8	UTSW	4	11,225,712 (GRCm39)	missense	possibly damaging	0.79
R2205:Ints8	UTSW	4	11,225,712 (GRCm39)	missense	possibly damaging	0.79
R2439:Ints8	UTSW	4	11,225,725 (GRCm39)	missense	probably benign	0.29
R2504:Ints8	UTSW	4	11,241,642 (GRCm39)	missense	probably benign	0.03
R3824:Ints8	UTSW	4	11,225,621 (GRCm39)	nonsense	probably null
R4664:Ints8	UTSW	4	11,227,152 (GRCm39)	missense	probably benign	0.04
R4703:Ints8	UTSW	4	11,223,785 (GRCm39)	missense	possibly damaging	0.92
R4895:Ints8	UTSW	4	11,230,367 (GRCm39)	nonsense	probably null
R5206:Ints8	UTSW	4	11,216,477 (GRCm39)	missense	possibly damaging	0.65
R5262:Ints8	UTSW	4	11,211,916 (GRCm39)	missense	probably damaging	1.00
R5505:Ints8	UTSW	4	11,221,143 (GRCm39)	missense	probably benign	0.18
R5513:Ints8	UTSW	4	11,248,303 (GRCm39)	missense	possibly damaging	0.79
R5750:Ints8	UTSW	4	11,241,654 (GRCm39)	missense	possibly damaging	0.81
R5892:Ints8	UTSW	4	11,223,813 (GRCm39)	missense	probably damaging	1.00
R6007:Ints8	UTSW	4	11,208,845 (GRCm39)	missense	possibly damaging	0.70
R6229:Ints8	UTSW	4	11,252,891 (GRCm39)	missense	probably damaging	1.00
R6466:Ints8	UTSW	4	11,252,878 (GRCm39)	missense	probably damaging	0.99
R6709:Ints8	UTSW	4	11,221,117 (GRCm39)	missense	possibly damaging	0.65
R6986:Ints8	UTSW	4	11,204,474 (GRCm39)	missense	probably damaging	1.00
R6998:Ints8	UTSW	4	11,204,537 (GRCm39)	missense	possibly damaging	0.80
R7074:Ints8	UTSW	4	11,204,574 (GRCm39)	missense	possibly damaging	0.82
R7221:Ints8	UTSW	4	11,225,613 (GRCm39)	missense	probably benign	0.01
R7772:Ints8	UTSW	4	11,227,190 (GRCm39)	missense	probably damaging	0.97
R7872:Ints8	UTSW	4	11,254,062 (GRCm39)	missense	probably benign	0.00
R7953:Ints8	UTSW	4	11,227,128 (GRCm39)	missense	probably benign
R8184:Ints8	UTSW	4	11,204,534 (GRCm39)	missense	probably damaging	1.00
R8301:Ints8	UTSW	4	11,246,120 (GRCm39)	missense	probably damaging	1.00
R8708:Ints8	UTSW	4	11,208,824 (GRCm39)	critical splice donor site	probably null
R8868:Ints8	UTSW	4	11,230,488 (GRCm39)	missense	probably benign
R9245:Ints8	UTSW	4	11,213,811 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGCTGCTTCCAGGACCAAAATAC -3'
(R):5'- ACCTTGATTGTTCCTGAAGCTCCAC -3'

Sequencing Primer
(F):5'- ACAATCAGCAGCTTGTTCTTTTAGC -3'
(R):5'- AGCACTTGAGAAGGCCCTG -3'

Posted On

2014-08-19