Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Ints10'

473900

Institutional Source

Beutler Lab

Gene Symbol

Ints10

Ensembl Gene

ENSMUSG00000031864

Gene Name

integrator complex subunit 10

Synonyms

4921521J11Rik

MMRRC Submission

040742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68793929-68831667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68825119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 682 (T682A)

Ref Sequence

ENSEMBL: ENSMUSP00000069908 (fasta)

Gene Model

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

AlphaFold

Q8K2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000034328

SMART Domains

Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070713
AA Change: T682A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: T682A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110241

SMART Domains

Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110242

SMART Domains

Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118390
Gene: ENSMUSG00000031864
AA Change: T124A

Domain	Start	End	E-Value	Type
low complexity region	92	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212064

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,747,552	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Dpp4	T	A	2: 62,386,436	T92S	probably benign	Het
Fam135a	T	C	1: 24,055,877	T137A	possibly damaging	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	Het
Zfp839	T	C	12: 110,855,163	V137A	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
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
R8134:Ints10	UTSW	8	68802986	nonsense	probably null
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

Posted On

2017-04-14