Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Ints8'

238719

Institutional Source

Beutler Lab

Gene Symbol

Ints8

Ensembl Gene

ENSMUSG00000040738

Gene Name

integrator complex subunit 8

Synonyms

2810013E07Rik, D130008D20Rik

MMRRC Submission

040204-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11199158-11254258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11225712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 615 (M615K)

Ref Sequence

ENSEMBL: ENSMUSP00000103955 (fasta)

Gene Model

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

AlphaFold

Q80V86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044616
AA Change: M615K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: M615K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108318
AA Change: M615K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: M615K

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

possibly damaging
Transcript: ENSMUST00000108319
AA Change: M615K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: M615K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137054

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,056,011 (GRCm39)	V249A	possibly damaging	Het
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abca14	T	C	7: 119,888,764 (GRCm39)	Y1237H	probably benign	Het
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,023,950 (GRCm39)	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,281,084 (GRCm39)	T11K	probably benign	Het
Calr3	A	G	8: 73,188,683 (GRCm39)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,581,066 (GRCm39)	D1119E	unknown	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,101,464 (GRCm39)	S441A	unknown	Het
Ces4a	T	A	8: 105,872,746 (GRCm39)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,056,600 (GRCm39)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,128,416 (GRCm39)	D856E	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cln3	T	A	7: 126,178,390 (GRCm39)	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dcstamp	T	A	15: 39,617,708 (GRCm39)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,175,194 (GRCm39)	T1331A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,738,557 (GRCm39)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,340,611 (GRCm39)	M463K	probably benign	Het
Garem2	A	G	5: 30,319,762 (GRCm39)	D408G	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,723,155 (GRCm39)		probably null	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Letm1	C	A	5: 33,926,830 (GRCm39)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,607,111 (GRCm39)	P95L	probably damaging	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Me3	T	C	7: 89,499,589 (GRCm39)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 125,990,467 (GRCm39)	E178G	probably benign	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10a2	T	A	7: 106,673,523 (GRCm39)	W163R	probably damaging	Het
Or2m12	C	T	16: 19,105,047 (GRCm39)	A149T	probably benign	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pid1	T	A	1: 84,016,159 (GRCm39)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,607,584 (GRCm39)	S1091P	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,939,725 (GRCm39)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,840,601 (GRCm39)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,649 (GRCm39)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Rbm8a2	T	C	1: 175,806,420 (GRCm39)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,608,741 (GRCm39)	S336P	probably damaging	Het
Saxo5	A	T	8: 3,529,028 (GRCm39)	D201V	probably benign	Het
Serpina11	G	T	12: 103,952,233 (GRCm39)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,659,655 (GRCm39)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,327,588 (GRCm39)	T159I	probably benign	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc22a20	A	T	19: 6,021,553 (GRCm39)	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm39)		probably null	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tmx3	T	C	18: 90,546,037 (GRCm39)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,034,876 (GRCm39)		probably null	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,335,366 (GRCm39)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,513,594 (GRCm39)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,192,519 (GRCm39)	H32L	probably benign	Het
Wsb1	T	C	11: 79,131,212 (GRCm39)	I395V	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfat	T	C	15: 68,051,709 (GRCm39)	D695G	probably benign	Het
Zfp358	G	T	8: 3,546,995 (GRCm39)	V526F	possibly damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly damaging	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
R0657:Ints8	UTSW	4	11,246,097 (GRCm39)	missense	probably benign	0.04
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
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'- AGGGAAGAAAGTTTCTCCCG -3'
(R):5'- AGCCTCATTCTCCTAGATACAATTG -3'

Sequencing Primer
(F):5'- GGGAAGAAAGTTTCTCCCGTTACC -3'
(R):5'- ACAATTGTATCCTTTTTCTCAGTCC -3'

Posted On

2014-10-02