Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Ints10'

350891

Institutional Source

Beutler Lab

Gene Symbol

Ints10

Ensembl Gene

ENSMUSG00000031864

Gene Name

integrator complex subunit 10

Synonyms

4921521J11Rik

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69245729-69282062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69263271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 394 (R394Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034328] [ENSMUST00000070713] [ENSMUST00000110241] [ENSMUST00000110242]

AlphaFold

Q8K2A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034328
AA Change: R394Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: R394Q

Domain	Start	End	E-Value	Type
low complexity region	132	138	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070713
AA Change: R394Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: R394Q

Domain	Start	End	E-Value	Type
low complexity region	132	138	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110241
AA Change: R394Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
AA Change: R394Q

Domain	Start	End	E-Value	Type
low complexity region	132	138	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110242
AA Change: R394Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: R394Q

Domain	Start	End	E-Value	Type
low complexity region	132	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140309

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS10 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	Het

Other mutations in Ints10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Ints10	APN	8	69,271,985 (GRCm39)	missense	probably damaging	1.00
IGL00964:Ints10	APN	8	69,264,638 (GRCm39)	missense	probably damaging	1.00
IGL02326:Ints10	APN	8	69,257,485 (GRCm39)	missense	probably damaging	0.99
R0012:Ints10	UTSW	8	69,260,127 (GRCm39)	missense	probably benign	0.01
R0112:Ints10	UTSW	8	69,279,954 (GRCm39)	missense	probably damaging	0.99
R1302:Ints10	UTSW	8	69,279,964 (GRCm39)	missense	probably damaging	1.00
R1462:Ints10	UTSW	8	69,260,296 (GRCm39)	splice site	probably benign
R1540:Ints10	UTSW	8	69,249,365 (GRCm39)	splice site	probably benign
R1592:Ints10	UTSW	8	69,255,555 (GRCm39)	missense	possibly damaging	0.69
R1845:Ints10	UTSW	8	69,247,323 (GRCm39)	missense	probably damaging	1.00
R2144:Ints10	UTSW	8	69,249,457 (GRCm39)	missense	probably damaging	1.00
R2323:Ints10	UTSW	8	69,271,997 (GRCm39)	missense	probably benign	0.09
R3765:Ints10	UTSW	8	69,277,771 (GRCm39)	missense	possibly damaging	0.78
R3910:Ints10	UTSW	8	69,266,272 (GRCm39)	missense	probably damaging	0.96
R3912:Ints10	UTSW	8	69,266,272 (GRCm39)	missense	probably damaging	0.96
R3913:Ints10	UTSW	8	69,266,272 (GRCm39)	missense	probably damaging	0.96
R4050:Ints10	UTSW	8	69,280,003 (GRCm39)	missense	probably damaging	1.00
R4151:Ints10	UTSW	8	69,247,250 (GRCm39)	splice site	probably null
R4607:Ints10	UTSW	8	69,263,271 (GRCm39)	missense	probably damaging	1.00
R4881:Ints10	UTSW	8	69,263,256 (GRCm39)	missense	probably benign	0.08
R4911:Ints10	UTSW	8	69,279,964 (GRCm39)	missense	probably damaging	0.98
R5255:Ints10	UTSW	8	69,246,624 (GRCm39)	start gained	probably benign
R5331:Ints10	UTSW	8	69,273,472 (GRCm39)	splice site	probably null
R5461:Ints10	UTSW	8	69,246,693 (GRCm39)	missense	possibly damaging	0.59
R5740:Ints10	UTSW	8	69,257,574 (GRCm39)	missense	probably damaging	0.96
R5741:Ints10	UTSW	8	69,257,574 (GRCm39)	missense	probably damaging	0.96
R6128:Ints10	UTSW	8	69,274,904 (GRCm39)	critical splice donor site	probably null
R6465:Ints10	UTSW	8	69,260,188 (GRCm39)	missense	probably benign
R6868:Ints10	UTSW	8	69,250,450 (GRCm39)	missense	probably damaging	1.00
R6983:Ints10	UTSW	8	69,246,703 (GRCm39)	missense	probably damaging	1.00
R7076:Ints10	UTSW	8	69,249,403 (GRCm39)	nonsense	probably null
R7216:Ints10	UTSW	8	69,274,809 (GRCm39)	missense	probably damaging	0.96
R7652:Ints10	UTSW	8	69,277,771 (GRCm39)	missense	possibly damaging	0.78
R8134:Ints10	UTSW	8	69,255,638 (GRCm39)	nonsense	probably null
R8176:Ints10	UTSW	8	69,255,603 (GRCm39)	missense	probably damaging	1.00
R8185:Ints10	UTSW	8	69,249,370 (GRCm39)	missense	possibly damaging	0.51
R8964:Ints10	UTSW	8	69,264,631 (GRCm39)	missense	probably benign
R9015:Ints10	UTSW	8	69,260,139 (GRCm39)	missense	probably benign	0.00
R9256:Ints10	UTSW	8	69,261,129 (GRCm39)	missense	possibly damaging	0.93
R9320:Ints10	UTSW	8	69,279,951 (GRCm39)	missense	probably damaging	0.98
R9372:Ints10	UTSW	8	69,271,967 (GRCm39)	missense	probably damaging	1.00
X0027:Ints10	UTSW	8	69,261,126 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TAGAAAGGCTGTGCACATGTAG -3'
(R):5'- CTGACCAAAACTGCATCCTATG -3'

Sequencing Primer
(F):5'- GACAGTGCTCAGAACAGA -3'
(R):5'- TGCCAGACCCAGCACTGAG -3'

Posted On

2015-10-08