Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Ints10'

632174

Institutional Source

Beutler Lab

Gene Symbol

Ints10

Ensembl Gene

ENSMUSG00000031864

Gene Name

integrator complex subunit 10

Synonyms

4921521J11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68793929-68831667 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 68802986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 209 (Y209*)

Ref Sequence

ENSEMBL: ENSMUSP00000069908 (fasta)

Gene Model

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

AlphaFold

Q8K2A7

Predicted Effect

probably null
Transcript: ENSMUST00000034328
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: Y209*

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

Predicted Effect

probably null
Transcript: ENSMUST00000070713
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: Y209*

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

Predicted Effect

probably null
Transcript: ENSMUST00000110241
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
AA Change: Y209*

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

Predicted Effect

probably null
Transcript: ENSMUST00000110242
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: Y209*

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Ints10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Ints10	APN	8	68819333	missense	probably damaging	1.00
IGL00964:Ints10	APN	8	68811986	missense	probably damaging	1.00
IGL02326:Ints10	APN	8	68804833	missense	probably damaging	0.99
R0012:Ints10	UTSW	8	68807475	missense	probably benign	0.01
R0112:Ints10	UTSW	8	68827302	missense	probably damaging	0.99
R1302:Ints10	UTSW	8	68827312	missense	probably damaging	1.00
R1462:Ints10	UTSW	8	68807644	splice site	probably benign
R1540:Ints10	UTSW	8	68796713	splice site	probably benign
R1592:Ints10	UTSW	8	68802903	missense	possibly damaging	0.69
R1845:Ints10	UTSW	8	68794671	missense	probably damaging	1.00
R2144:Ints10	UTSW	8	68796805	missense	probably damaging	1.00
R2323:Ints10	UTSW	8	68819345	missense	probably benign	0.09
R3765:Ints10	UTSW	8	68825119	missense	possibly damaging	0.78
R3910:Ints10	UTSW	8	68813620	missense	probably damaging	0.96
R3912:Ints10	UTSW	8	68813620	missense	probably damaging	0.96
R3913:Ints10	UTSW	8	68813620	missense	probably damaging	0.96
R4050:Ints10	UTSW	8	68827351	missense	probably damaging	1.00
R4151:Ints10	UTSW	8	68794598	splice site	probably null
R4607:Ints10	UTSW	8	68810619	missense	probably damaging	1.00
R4608:Ints10	UTSW	8	68810619	missense	probably damaging	1.00
R4881:Ints10	UTSW	8	68810604	missense	probably benign	0.08
R4911:Ints10	UTSW	8	68827312	missense	probably damaging	0.98
R5255:Ints10	UTSW	8	68793972	start gained	probably benign
R5331:Ints10	UTSW	8	68820820	splice site	probably null
R5461:Ints10	UTSW	8	68794041	missense	possibly damaging	0.59
R5740:Ints10	UTSW	8	68804922	missense	probably damaging	0.96
R5741:Ints10	UTSW	8	68804922	missense	probably damaging	0.96
R6128:Ints10	UTSW	8	68822252	critical splice donor site	probably null
R6465:Ints10	UTSW	8	68807536	missense	probably benign
R6868:Ints10	UTSW	8	68797798	missense	probably damaging	1.00
R6983:Ints10	UTSW	8	68794051	missense	probably damaging	1.00
R7076:Ints10	UTSW	8	68796751	nonsense	probably null
R7216:Ints10	UTSW	8	68822157	missense	probably damaging	0.96
R7652:Ints10	UTSW	8	68825119	missense	possibly damaging	0.78
R8176:Ints10	UTSW	8	68802951	missense	probably damaging	1.00
R8185:Ints10	UTSW	8	68796718	missense	possibly damaging	0.51
R8964:Ints10	UTSW	8	68811979	missense	probably benign
R9015:Ints10	UTSW	8	68807487	missense	probably benign	0.00
R9256:Ints10	UTSW	8	68808477	missense	possibly damaging	0.93
R9320:Ints10	UTSW	8	68827299	missense	probably damaging	0.98
R9372:Ints10	UTSW	8	68819315	missense	probably damaging	1.00
X0027:Ints10	UTSW	8	68808474	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACACTAGGTTCAGTGAACAGG -3'
(R):5'- GTGTGATGCTTAGCAACCAGAC -3'

Sequencing Primer
(F):5'- CAGGAAAATGGATTAGTTTCTGTCTG -3'
(R):5'- GCTTAGCAACCAGACTATTTCAG -3'

Posted On

2020-06-30