Mutagenetix > Incidental Mutation

Incidental Mutation 'R0069:Ints3'

18015

Institutional Source

Beutler Lab

Gene Symbol

Ints3

Ensembl Gene

ENSMUSG00000027933

Gene Name

integrator complex subunit 3

Synonyms

MMRRC Submission

038360-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0069 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90298695-90340929 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 90307954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]

AlphaFold

Q7TPD0

Predicted Effect

probably benign
Transcript: ENSMUST00000029542

SMART Domains

Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071488

SMART Domains

Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196530

SMART Domains

Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	268	497	5.7e-114	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1018	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199992

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 86.4%
3x: 80.4%
10x: 57.4%
20x: 26.1%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,538,525 (GRCm39)	C632S	probably damaging	Het
Ccnb1ip1	G	A	14: 81,519,382 (GRCm38)	Q322*	probably null	Het
Cd101	A	G	3: 100,915,533 (GRCm39)	V678A	probably benign	Het
Creb1	A	G	1: 64,615,367 (GRCm39)	I240V	possibly damaging	Het
Dctn2	A	T	10: 127,113,354 (GRCm39)		probably null	Het
Diablo	A	T	5: 123,656,087 (GRCm39)	S117R	probably damaging	Het
Ebf2	A	T	14: 67,647,499 (GRCm39)	R349S	probably damaging	Het
Gne	A	C	4: 44,060,099 (GRCm39)	V98G	probably damaging	Het
Itgal	A	G	7: 126,909,503 (GRCm39)	T56A	probably benign	Het
Lzts3	T	A	2: 130,478,460 (GRCm39)	T213S	probably benign	Het
Myo1d	A	G	11: 80,528,779 (GRCm39)	I681T	probably damaging	Het
Pde8a	T	C	7: 80,968,871 (GRCm39)		probably benign	Het
Pole2	A	T	12: 69,256,661 (GRCm39)	V288E	probably damaging	Het
Poteg	T	C	8: 27,937,849 (GRCm39)	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,534,204 (GRCm39)	M356L	probably benign	Het
Rad54l2	C	A	9: 106,587,564 (GRCm39)	V734L	possibly damaging	Het
Ryr1	A	C	7: 28,809,930 (GRCm39)		probably benign	Het
Slfn10-ps	A	G	11: 82,926,368 (GRCm39)		noncoding transcript	Het
Sult1e1	A	T	5: 87,727,756 (GRCm39)	H175Q	probably damaging	Het
Trgv7	A	G	13: 19,362,592 (GRCm39)	R94G	probably benign	Het
Ube2e3	C	A	2: 78,750,293 (GRCm39)		probably benign	Het
Vps13d	A	G	4: 144,789,133 (GRCm39)	I746T	probably benign	Het
Xpnpep3	T	C	15: 81,314,999 (GRCm39)	V233A	probably benign	Het
Zfp329	A	T	7: 12,544,859 (GRCm39)	S222T	probably damaging	Het
Zswim6	T	C	13: 107,875,098 (GRCm39)		noncoding transcript	Het

Other mutations in Ints3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ints3	APN	3	90,313,636 (GRCm39)	missense	probably damaging	1.00
IGL01339:Ints3	APN	3	90,322,463 (GRCm39)	critical splice donor site	probably null
IGL01398:Ints3	APN	3	90,300,130 (GRCm39)	missense	probably damaging	1.00
IGL01599:Ints3	APN	3	90,301,629 (GRCm39)	critical splice donor site	probably null
IGL01864:Ints3	APN	3	90,322,486 (GRCm39)	missense	probably benign	0.33
IGL01984:Ints3	APN	3	90,299,533 (GRCm39)	missense	possibly damaging	0.79
IGL02325:Ints3	APN	3	90,311,349 (GRCm39)	missense	probably damaging	1.00
IGL02516:Ints3	APN	3	90,310,415 (GRCm39)	missense	probably damaging	1.00
IGL02867:Ints3	APN	3	90,300,143 (GRCm39)	missense	probably damaging	1.00
IGL02889:Ints3	APN	3	90,300,143 (GRCm39)	missense	probably damaging	1.00
IGL02975:Ints3	APN	3	90,309,144 (GRCm39)	splice site	probably benign
PIT4431001:Ints3	UTSW	3	90,303,767 (GRCm39)	missense	probably damaging	0.99
R0003:Ints3	UTSW	3	90,315,818 (GRCm39)	missense	probably benign	0.00
R0003:Ints3	UTSW	3	90,315,818 (GRCm39)	missense	probably benign	0.00
R0069:Ints3	UTSW	3	90,307,954 (GRCm39)	splice site	probably benign
R1450:Ints3	UTSW	3	90,340,135 (GRCm39)	missense	probably damaging	1.00
R1985:Ints3	UTSW	3	90,307,610 (GRCm39)	critical splice donor site	probably null
R2324:Ints3	UTSW	3	90,301,401 (GRCm39)	missense	probably damaging	1.00
R2425:Ints3	UTSW	3	90,301,417 (GRCm39)	missense	possibly damaging	0.91
R2920:Ints3	UTSW	3	90,300,469 (GRCm39)	missense	probably benign	0.22
R3937:Ints3	UTSW	3	90,311,294 (GRCm39)	nonsense	probably null
R4678:Ints3	UTSW	3	90,315,817 (GRCm39)	missense	possibly damaging	0.47
R4679:Ints3	UTSW	3	90,315,817 (GRCm39)	missense	possibly damaging	0.47
R4719:Ints3	UTSW	3	90,322,828 (GRCm39)	missense	probably benign	0.20
R4726:Ints3	UTSW	3	90,301,084 (GRCm39)	missense	probably damaging	1.00
R4993:Ints3	UTSW	3	90,322,814 (GRCm39)	missense	probably benign	0.05
R5154:Ints3	UTSW	3	90,322,868 (GRCm39)	missense	probably benign	0.01
R5243:Ints3	UTSW	3	90,308,451 (GRCm39)	frame shift	probably null
R5454:Ints3	UTSW	3	90,315,834 (GRCm39)	missense	possibly damaging	0.72
R5678:Ints3	UTSW	3	90,310,855 (GRCm39)	missense	probably damaging	0.99
R6123:Ints3	UTSW	3	90,320,861 (GRCm39)	missense	probably benign	0.01
R6548:Ints3	UTSW	3	90,299,431 (GRCm39)	unclassified	probably benign
R6916:Ints3	UTSW	3	90,313,641 (GRCm39)	missense	probably damaging	1.00
R7265:Ints3	UTSW	3	90,311,290 (GRCm39)	critical splice donor site	probably null
R7332:Ints3	UTSW	3	90,322,819 (GRCm39)	missense	probably damaging	0.98
R7699:Ints3	UTSW	3	90,329,111 (GRCm39)	missense	probably benign	0.00
R7700:Ints3	UTSW	3	90,329,111 (GRCm39)	missense	probably benign	0.00
R7790:Ints3	UTSW	3	90,307,720 (GRCm39)	missense	probably benign	0.09
R7827:Ints3	UTSW	3	90,331,319 (GRCm39)	missense	probably benign	0.11
R7915:Ints3	UTSW	3	90,340,132 (GRCm39)	missense	probably benign	0.06
R8118:Ints3	UTSW	3	90,307,606 (GRCm39)	splice site	probably null
R8119:Ints3	UTSW	3	90,299,607 (GRCm39)	missense	probably damaging	0.97
R8193:Ints3	UTSW	3	90,307,929 (GRCm39)	missense	possibly damaging	0.82
R8468:Ints3	UTSW	3	90,313,560 (GRCm39)	missense	probably damaging	0.96
R9240:Ints3	UTSW	3	90,310,410 (GRCm39)	missense	possibly damaging	0.82
R9260:Ints3	UTSW	3	90,308,468 (GRCm39)	missense	probably damaging	0.99
R9486:Ints3	UTSW	3	90,313,579 (GRCm39)	nonsense	probably null
R9634:Ints3	UTSW	3	90,318,606 (GRCm39)	missense
R9656:Ints3	UTSW	3	90,299,839 (GRCm39)	missense	probably null	0.01
R9744:Ints3	UTSW	3	90,318,605 (GRCm39)	missense	probably damaging	1.00
Z1177:Ints3	UTSW	3	90,313,663 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25