Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Ints8'

356191

Institutional Source

Beutler Lab

Gene Symbol

Ints8

Ensembl Gene

ENSMUSG00000040738

Gene Name

integrator complex subunit 8

Synonyms

2810013E07Rik, D130008D20Rik

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11199158-11254258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11223785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 686 (Q686P)

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: Q686P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: Q686P

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: Q686P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: Q686P

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: Q686P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: Q686P

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: ENSMUST00000133031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137054

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	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
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
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
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'- CCAACTGACAAGTGTGTGC -3'
(R):5'- GTGGTTAAACAAGCTTTGGTGAC -3'

Sequencing Primer
(F):5'- CAAGTGTGTGCCTTAATTAATGAGG -3'
(R):5'- AGGTAAGGTCTTCTGTAACCCAC -3'

Posted On

2015-10-21