Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Ints8'

273633

Institutional Source

Beutler Lab

Gene Symbol

Ints8

Ensembl Gene

ENSMUSG00000040738

Gene Name

integrator complex subunit 8

Synonyms

2810013E07Rik, D130008D20Rik

MMRRC Submission

039789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1757 (G1)

Quality Score

38.3

Status

Validated

Chromosome

Chromosomal Location

11199158-11254258 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 11254109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000103955 (fasta)

Gene Model

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

AlphaFold

Q80V86

Predicted Effect

probably null
Transcript: ENSMUST00000044616
AA Change: M1R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: M1R

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 null
Transcript: ENSMUST00000108318
AA Change: M1R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: M1R

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 null
Transcript: ENSMUST00000108319
AA Change: M1R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: M1R

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

0.8182

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867 (GRCm38)	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,096,703 (GRCm39)	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,585,252 (GRCm39)	T839A	probably benign	Het
Akap1	C	T	11: 88,736,578 (GRCm39)	R61H	probably damaging	Het
Akap9	A	G	5: 4,051,667 (GRCm39)	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,026,775 (GRCm39)	V547E	possibly damaging	Het
Ano6	G	A	15: 95,860,148 (GRCm39)	A757T	probably damaging	Het
Armc10	A	G	5: 21,858,455 (GRCm39)	T167A	probably damaging	Het
BB019430	A	C	10: 58,539,869 (GRCm39)		noncoding transcript	Het
Brms1	C	T	19: 5,096,435 (GRCm39)	R82W	probably damaging	Het
Btnl6	G	A	17: 34,733,062 (GRCm39)	T267I	probably benign	Het
Catsper4	A	T	4: 133,945,212 (GRCm39)	F215L	probably benign	Het
Ccdc188	T	C	16: 18,036,552 (GRCm39)	F197S	probably damaging	Het
Cers5	A	C	15: 99,634,212 (GRCm39)	C379G	probably benign	Het
Chchd6	A	G	6: 89,361,626 (GRCm39)	L259P	probably damaging	Het
Cntnap2	T	A	6: 46,736,763 (GRCm39)	C730S	probably damaging	Het
Coch	T	G	12: 51,649,631 (GRCm39)	V314G	probably damaging	Het
Cog1	T	A	11: 113,543,130 (GRCm39)	S213T	possibly damaging	Het
Crot	A	T	5: 9,037,828 (GRCm39)	F163I	probably damaging	Het
Cyp4f13	A	T	17: 33,148,932 (GRCm39)	I162N	probably damaging	Het
Dab2	A	T	15: 6,359,933 (GRCm39)		probably benign	Het
Depdc1b	C	T	13: 108,460,482 (GRCm39)	R31W	probably damaging	Het
Dlk1	T	C	12: 109,425,613 (GRCm39)	F161S	probably damaging	Het
Dnah6	T	C	6: 73,137,965 (GRCm39)	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,455,028 (GRCm39)	Y5C	probably damaging	Het
Dock10	T	C	1: 80,511,586 (GRCm39)	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,361,832 (GRCm39)		probably benign	Het
Efcc1	T	C	6: 87,726,265 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,727,450 (GRCm39)	Y533H	probably benign	Het
Epha8	A	T	4: 136,658,789 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,401,402 (GRCm39)	T17M	probably damaging	Het
Ethe1	T	C	7: 24,307,899 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,386,347 (GRCm39)	M211K	probably damaging	Het
Fhod3	G	A	18: 25,199,335 (GRCm39)	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003 (GRCm39)		probably benign	Het
Foxred1	G	A	9: 35,122,130 (GRCm39)	R20C	probably benign	Het
Gbp9	A	G	5: 105,242,319 (GRCm39)	L140P	probably damaging	Het
Gga1	T	C	15: 78,773,230 (GRCm39)	L286P	probably damaging	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,486,035 (GRCm39)	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,720,648 (GRCm39)		probably benign	Het
H2-M10.6	A	C	17: 37,124,043 (GRCm39)	Y169S	probably benign	Het
Hal	G	A	10: 93,330,490 (GRCm39)	V245I	probably benign	Het
Hebp2	T	C	10: 18,420,849 (GRCm39)	Y72C	probably damaging	Het
Helz2	T	C	2: 180,878,056 (GRCm39)	E914G	probably damaging	Het
Herc3	T	C	6: 58,893,455 (GRCm39)	Y906H	probably damaging	Het
Hfm1	A	T	5: 107,028,226 (GRCm39)		probably null	Het
Hgs	C	T	11: 120,370,889 (GRCm39)	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,211,469 (GRCm39)	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,454,738 (GRCm39)	Q4L	possibly damaging	Het
Isg15	T	C	4: 156,284,447 (GRCm39)	E27G	possibly damaging	Het
Klf13	A	T	7: 63,541,513 (GRCm39)	C205S	probably damaging	Het
Lama1	A	T	17: 68,070,831 (GRCm39)	Y830F	probably benign	Het
Lama1	G	A	17: 68,004,378 (GRCm39)	V17M	unknown	Het
Lama3	A	G	18: 12,598,556 (GRCm39)	N988D	probably benign	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lct	G	T	1: 128,228,994 (GRCm39)	P833H	probably damaging	Het
Lmf1	A	T	17: 25,874,184 (GRCm39)	R403W	probably damaging	Het
Me3	T	G	7: 89,282,230 (GRCm39)	S38A	probably benign	Het
Myg1	A	T	15: 102,240,264 (GRCm39)	D30V	probably benign	Het
Nbea	A	G	3: 55,537,610 (GRCm39)	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,542,847 (GRCm39)		probably null	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or4p23	G	T	2: 88,576,361 (GRCm39)	D290E	probably benign	Het
Or5b119	A	C	19: 13,456,971 (GRCm39)	V197G	possibly damaging	Het
Or6n2	A	T	1: 173,897,224 (GRCm39)	Y120F	probably damaging	Het
Or9m2	T	G	2: 87,820,926 (GRCm39)	I157R	probably damaging	Het
Osbpl9	A	G	4: 108,921,780 (GRCm39)	Y613H	probably damaging	Het
Per3	C	T	4: 151,127,249 (GRCm39)		probably null	Het
Pex6	G	T	17: 47,034,424 (GRCm39)	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,291,707 (GRCm39)	I1309V	probably damaging	Het
Pimreg	A	G	11: 71,933,985 (GRCm39)	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,486,232 (GRCm39)	V211I	probably benign	Het
Plekhg4	T	A	8: 106,108,293 (GRCm39)	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,319 (GRCm39)	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,712,765 (GRCm39)	L254F	probably benign	Het
Rictor	G	A	15: 6,803,343 (GRCm39)	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,223,475 (GRCm39)	T137M	probably damaging	Het
Rrp9	T	A	9: 106,360,203 (GRCm39)	C204S	probably damaging	Het
Rxylt1	T	C	10: 121,924,920 (GRCm39)	T261A	probably benign	Het
Serpinb9h	T	C	13: 33,583,336 (GRCm39)	S150P	probably benign	Het
Shkbp1	T	C	7: 27,041,776 (GRCm39)	T693A	probably benign	Het
Skint9	A	G	4: 112,271,159 (GRCm39)	Y84H	probably benign	Het
Slc22a12	A	T	19: 6,586,761 (GRCm39)		probably null	Het
Slfn4	T	C	11: 83,076,211 (GRCm39)	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,074,363 (GRCm39)	L1401P	probably damaging	Het
Specc1	T	A	11: 62,010,110 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,790,647 (GRCm39)	R204G	probably damaging	Het
Tektl1	T	C	10: 78,583,058 (GRCm39)	N442S	probably benign	Het
Tgfbr3l	C	A	8: 4,299,548 (GRCm39)	D110E	probably benign	Het
Ticrr	T	G	7: 79,325,071 (GRCm39)	S532R	probably damaging	Het
Ticrr	C	A	7: 79,328,794 (GRCm39)	Y644*	probably null	Het
Traf3ip1	A	T	1: 91,450,579 (GRCm39)	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946 (GRCm39)	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,652,157 (GRCm39)	M172V	probably damaging	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Tshz2	C	A	2: 169,725,843 (GRCm39)	F146L	probably benign	Het
Tspyl4	G	T	10: 34,173,576 (GRCm39)	E23*	probably null	Het
Ulk2	A	T	11: 61,732,165 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,227,674 (GRCm39)	I1336F	probably damaging	Het
Vezt	T	C	10: 93,806,425 (GRCm39)	D662G	probably benign	Het
Vnn1	G	T	10: 23,776,727 (GRCm39)	Q359H	probably benign	Het
Vnn1	A	T	10: 23,776,726 (GRCm39)	Q359L	possibly damaging	Het
Zdhhc16	A	G	19: 41,930,394 (GRCm39)	N14S	probably damaging	Het
Zfp455	T	C	13: 67,355,601 (GRCm39)	S225P	probably damaging	Het
Zfp74	T	A	7: 29,634,486 (GRCm39)	E407D	probably benign	Het
Zic2	T	A	14: 122,716,031 (GRCm39)	H384Q	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
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'- TGAAACTTTCCGCAGACGCTCC -3'
(R):5'- CGCCAGAATCTAGCTTCTGAAGGG -3'

Sequencing Primer
(F):5'- GCTGAGGCACCGTCGAG -3'
(R):5'- CCTCCGAAGTCTAACTGGGATTG -3'

Posted On

2015-03-31